#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
ARHGEF16	27237	broad.mit.edu	37	1	3390011	3390011	+	Silent	SNP	G	G	T	rs567859784		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:3390011G>T	ENST00000378378.4	+	8	1635	c.1230G>T	c.(1228-1230)gcG>gcT	p.A410A	ARHGEF16_ENST00000378371.2_Silent_p.A122A|ARHGEF16_ENST00000413250.2_Silent_p.A114A|ARHGEF16_ENST00000378373.1_Silent_p.A122A	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	410	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A410A(1)|p.A122A(1)|p.A114A(1)		lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCGGCCGGCGTGCGGGGGCC	0.662																																						uc001akg.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(1228-1230)GCG>GCT		Rho guanine exchange factor 16							38.0	53.0	48.0					1																	3390011		2203	4297	6500	SO:0001819	synonymous_variant	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3390011G>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1230G>T	1.37:g.3390011G>T						ARHGEF16_uc001aki.2_Silent_p.A122A|ARHGEF16_uc001akj.2_Silent_p.A122A|ARHGEF16_uc009vli.1_Silent_p.A114A|ARHGEF16_uc010nzh.1_Silent_p.A114A	p.A410A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	8	1478	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	410			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	c.1230G>T	CCDS46.2																																																																																				PASS	0.662	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		6	30	6	30	---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10715789	10715789	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:10715789G>A	ENST00000377022.3	-	9	1899	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	CASZ1_ENST00000344008.5_Missense_Mutation_p.R528C|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	528					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.R528C(2)		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)		GGGCTGAAACGCATGAAGCCG	0.607																																						uc001aro.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(1582-1584)CGT>TGT		castor homolog 1, zinc finger isoform a							226.0	164.0	185.0					1																	10715789		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715789G>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.1582C>T	1.37:g.10715789G>A	ENSP00000366221:p.Arg528Cys					CASZ1_uc001arp.1_Missense_Mutation_p.R528C|CASZ1_uc009vmx.2_Missense_Mutation_p.R552C	p.R528C	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	1902	-	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)	528					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1582C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712953	0.89112	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.76955	-0.2767	9	0.87932	D	0	-30.5517	12.9889	0.58608	0.0:0.0:0.8383:0.1617	.	552;528;528	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	C	528	.	ENSP00000339445:R528C	R	-	1	0	CASZ1	10638376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.295000	0.78780	2.409000	0.81822	0.561000	0.74099	CGT		PASS	0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		6	46	6	46	---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16101265	16101265	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:16101265G>T	ENST00000375766.3	+	7	1504	c.864G>T	c.(862-864)gaG>gaT	p.E288D	FBLIM1_ENST00000400773.1_Missense_Mutation_p.E191D|FBLIM1_ENST00000332305.5_Missense_Mutation_p.E191D|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E288D|FBLIM1_ENST00000375771.1_Missense_Mutation_p.E288D	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	288	FERMT2-binding.|LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.E288D(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCAGAACGAGGTGTACTGCC	0.632																																						uc001axd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(862-864)GAG>GAT		filamin-binding LIM protein-1 isoform a							124.0	116.0	119.0					1																	16101265		2203	4300	6503	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16101265G>T		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.864G>T	1.37:g.16101265G>T	ENSP00000364921:p.Glu288Asp					FBLIM1_uc001axe.1_Missense_Mutation_p.E288D|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.E288D|FBLIM1_uc001axh.1_Missense_Mutation_p.E191D|FBLIM1_uc001axi.1_Missense_Mutation_p.E191D	p.E288D	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	8	1307	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	288			PLEKHC1-binding.|LIM zinc-binding 2.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.864G>T	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694406	0.48202	.	.	ENSG00000162458	ENST00000375771;ENST00000375766;ENST00000400773;ENST00000441801;ENST00000332305	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.16	3.09	0.35607	Zinc finger, LIM-type (4);	0.119433	0.56097	D	0.000029	T	0.77864	0.4194	L	0.39245	1.2	0.25591	N	0.986699	B;B;B	0.22851	0.004;0.076;0.016	B;B;B	0.26202	0.009;0.067;0.023	T	0.60010	-0.7346	10	0.18276	T	0.48	.	5.3151	0.15850	0.2005:0.0:0.6348:0.1647	.	191;288;288	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	D	288;288;191;288;191	ENSP00000364926:E288D;ENSP00000364921:E288D;ENSP00000383584:E191D;ENSP00000416387:E288D;ENSP00000364920:E191D	ENSP00000364920:E191D	E	+	3	2	FBLIM1	15973852	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.366000	0.34193	1.341000	0.45600	0.655000	0.94253	GAG		PASS	0.632	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		8	108	8	108	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16907280	16907280	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:16907280G>T	ENST00000430580.2	-	16	2438	c.1551C>A	c.(1549-1551)tcC>tcA	p.S517S	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	517	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCATGAGAGGATTCTCTGT	0.453																																						uc009vos.1																			0					0						c.(1549-1551)TCC>TCA		hypothetical protein LOC55672							988.0	1001.0	997.0					1																	16907280		2202	4298	6500	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16907280G>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1551C>A	1.37:g.16907280G>T						NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Silent_p.S246S	p.S517S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2439	-			517			NBPF 2.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.1551C>A																																																																																					PASS	0.453	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		15	740	15	740	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17566199	17566199	+	Splice_Site	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:17566199G>T	ENST00000375471.4	+	14	1645	c.1553G>T	c.(1552-1554)gGg>gTg	p.G518V	PADI1_ENST00000537499.1_Splice_Site_p.G75V|PADI1_ENST00000536552.1_5'UTR|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Splice_Site_p.G75V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	518					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.G518V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CTTCTTGCAGGGTTAAAACAC	0.522																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1552-1554)GGG>GTG		peptidylarginine deiminase type I	L-Citrulline(DB00155)						59.0	58.0	59.0					1																	17566199		2203	4300	6503	SO:0001630	splice_region_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17566199G>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1553-1G>T	1.37:g.17566199G>T						PADI1_uc010oco.1_Missense_Mutation_p.G75V|PADI1_uc010ocp.1_Missense_Mutation_p.G75V|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'UTR	p.G518V	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	14	1645	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	518					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1553G>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905945	0.72868	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717	T;T;T	0.39229	1.09;1.09;1.09	5.0	4.05	0.47172	Protein-arginine deiminase, C-terminal (1);	0.295885	0.30244	N	0.010069	T	0.60702	0.2289	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74348	0.983;0.981	T	0.62918	-0.6752	10	0.87932	D	0	.	7.8934	0.29691	0.1274:0.0:0.8726:0.0	.	75;518	B4DPX6;Q9ULC6	.;PADI1_HUMAN	V	518;75;75	ENSP00000364620:G518V;ENSP00000444032:G75V;ENSP00000396697:G75V	ENSP00000364620:G518V	G	+	2	0	PADI1	17438786	1.000000	0.71417	0.770000	0.31555	0.497000	0.33675	2.861000	0.48380	1.134000	0.42165	0.563000	0.77884	GGG		PASS	0.522	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358	Missense_Mutation	6	62	6	62	---	---	---	---
ACTL8	81569	broad.mit.edu	37	1	18152822	18152822	+	Silent	SNP	C	C	A	rs370158483		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:18152822C>A	ENST00000375406.1	+	3	1125	c.909C>A	c.(907-909)ctC>ctA	p.L303L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	303					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L303L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCAACACCCTCTATCCCGGGT	0.612											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(907-909)CTC>CTA		actin-like 8							53.0	58.0	56.0					1																	18152822		2203	4300	6503	SO:0001819	synonymous_variant	81569					cytoplasm|cytoskeleton		g.chr1:18152822C>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.909C>A	1.37:g.18152822C>A			OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.L303L	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	1125	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	303					Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	c.909C>A	CCDS183.1																																																																																				PASS	0.612	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		14	51	14	51	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21009181	21009181	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:21009181C>T	ENST00000247986.2	-	11	2738	c.2428G>A	c.(2428-2430)Gcc>Acc	p.A810T	KIF17_ENST00000375044.1_Missense_Mutation_p.A710T|KIF17_ENST00000400463.3_Missense_Mutation_p.A810T|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	810					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.A810T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTGCTCTTGGCCCGCACTTCC	0.637																																						uc001bdr.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2428-2430)GCC>ACC		kinesin family member 17 isoform a							73.0	66.0	68.0					1																	21009181		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009181C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2428G>A	1.37:g.21009181C>T	ENSP00000247986:p.Ala810Thr					KIF17_uc001bdp.3_Missense_Mutation_p.A88T|KIF17_uc001bdq.3_Missense_Mutation_p.A88T|KIF17_uc009vpx.2_Missense_Mutation_p.A180T|KIF17_uc001bds.3_Missense_Mutation_p.A810T	p.A810T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	11	2546	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	810			Potential.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.2428G>A	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206189	0.95033	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.74209	-0.82;-0.67;-0.67	5.76	5.76	0.90799	.	0.000000	0.32416	U	0.006139	D	0.85622	0.5739	M	0.72353	2.195	0.39290	D	0.964723	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.963	D	0.86566	0.1844	10	0.54805	T	0.06	.	17.1332	0.86732	0.0:1.0:0.0:0.0	.	810;810;810	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	T	710;810;810;191	ENSP00000364184:A710T;ENSP00000383311:A810T;ENSP00000247986:A810T	ENSP00000247986:A810T	A	-	1	0	KIF17	20881768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.117000	0.77129	2.724000	0.93272	0.563000	0.77884	GCC		PASS	0.637	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		6	79	6	79	---	---	---	---
USP48	84196	broad.mit.edu	37	1	22079485	22079485	+	Splice_Site	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:22079485C>A	ENST00000308271.9	-	4	1188	c.540G>T	c.(538-540)caG>caT	p.Q180H	USP48_ENST00000529637.1_Splice_Site_p.Q180H|USP48_ENST00000400301.1_Splice_Site_p.Q180H|USP48_ENST00000421625.2_Splice_Site_p.Q180H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	180	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.Q180H(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CAGTTCTTACCTGCTGTTGTC	0.353																																						uc001bfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(538-540)CAG>CAT		ubiquitin specific protease 48 isoform a							54.0	52.0	53.0					1																	22079485		2203	4300	6503	SO:0001630	splice_region_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22079485C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.540+1G>T	1.37:g.22079485C>A						USP48_uc010odq.1_Missense_Mutation_p.Q180H|USP48_uc009vqc.2_Missense_Mutation_p.Q180H|USP48_uc001bfc.2_Missense_Mutation_p.Q180H|USP48_uc001bfe.1_Missense_Mutation_p.Q180H|USP48_uc001bff.2_Missense_Mutation_p.Q180H	p.Q180H	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	4	778	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	180					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.540G>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028594	0.93518	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	5.91	5.91	0.95273	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	L	0.45698	1.435	0.80722	D	1	D;D;P;D;D;D	0.89917	0.998;0.988;0.596;0.98;1.0;1.0	D;P;B;P;D;D	0.81914	0.969;0.883;0.296;0.855;0.959;0.995	T	0.00052	-1.2191	9	.	.	.	.	18.8601	0.92268	0.0:1.0:0.0:0.0	.	180;180;180;180;180;180	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	H	180	ENSP00000383157:Q180H;ENSP00000309262:Q180H;ENSP00000431949:Q180H;ENSP00000406256:Q180H	.	Q	-	3	2	USP48	21952072	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.415000	0.80131	2.813000	0.96785	0.655000	0.94253	CAG		PASS	0.353	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	Missense_Mutation	9	24	9	24	---	---	---	---
S100PBP	64766	broad.mit.edu	37	1	33291859	33291859	+	Silent	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:33291859C>T	ENST00000373475.5	+	3	413	c.159C>T	c.(157-159)taC>taT	p.Y53Y	S100PBP_ENST00000373476.1_Silent_p.Y53Y|S100PBP_ENST00000398243.3_Silent_p.Y53Y|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein									p.Y53Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ATGTAAATTACACAGAGGAAG	0.473																																						uc001bvz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)TAC>TAT		S100P binding protein isoform a							161.0	147.0	151.0					1																	33291859		2203	4300	6503	SO:0001819	synonymous_variant	64766					nucleus	calcium-dependent protein binding	g.chr1:33291859C>T	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.159C>T	1.37:g.33291859C>T						S100PBP_uc001bwa.1_Silent_p.Y53Y|S100PBP_uc001bwb.1_Silent_p.Y53Y|S100PBP_uc001bwc.2_Silent_p.Y53Y|S100PBP_uc001bwd.2_RNA	p.Y53Y	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	436	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	53						Silent	SNP	ENST00000373475.5	37	c.159C>T	CCDS30666.1																																																																																				PASS	0.473	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		7	58	7	58	---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755023	36755023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:36755023C>A	ENST00000354618.5	+	5	1627	c.1403C>A	c.(1402-1404)tCa>tAa	p.S468*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.S468*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	468	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S468*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGAGAAGTCAGGCAAATGG	0.453			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		1	Substitution - Nonsense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(1402-1404)TCA>TAA		thyroid hormone receptor associated protein 3							67.0	72.0	71.0					1																	36755023		2203	4300	6503	SO:0001587	stop_gained	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755023C>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1403C>A	1.37:g.36755023C>A	ENSP00000346634:p.Ser468*					THRAP3_uc001caf.3_Nonsense_Mutation_p.S468*|THRAP3_uc001cag.1_Nonsense_Mutation_p.S468*	p.S468*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			5	1627	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	468					D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	ENST00000354618.5	37	c.1403C>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	39	7.660355	0.98419	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.84	4.91	0.64330	.	0.270749	0.30959	N	0.008532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-1.4243	12.3242	0.55001	0.1335:0.7379:0.1286:0.0	.	.	.	.	X	468	.	ENSP00000346634:S468X	S	+	2	0	THRAP3	36527610	0.982000	0.34865	0.995000	0.50966	0.998000	0.95712	1.995000	0.40767	1.442000	0.47568	0.655000	0.94253	TCA		PASS	0.453	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		14	61	14	61	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39801599	39801599	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:39801599C>A	ENST00000372915.3	+	36	9441	c.9354C>A	c.(9352-9354)caC>caA	p.H3118Q	MACF1_ENST00000289893.4_Missense_Mutation_p.H1553Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H3150Q|MACF1_ENST00000564288.1_Missense_Mutation_p.H3113Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3118					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.H1553Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGGATTGCACTACCAGGAAT	0.468																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4657-4659)CAC>CAA		microfilament and actin filament cross-linker							52.0	57.0	55.0					1																	39801599		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801599C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9354C>A	1.37:g.39801599C>A	ENSP00000362006:p.His3118Gln					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.H1553Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4790	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3118					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4659C>A		.	.	.	.	.	.	.	.	.	.	C	7.781	0.709496	0.15239	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62364	0.03;1.12	4.93	-0.487	0.12060	.	0.815400	0.10957	N	0.615328	T	0.38639	0.1048	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27262	-1.0079	10	0.66056	D	0.02	.	3.5011	0.07673	0.1727:0.4517:0.0:0.3756	.	3118	Q9UPN3	MACF1_HUMAN	Q	3118;1553	ENSP00000362006:H3118Q;ENSP00000289893:H1553Q	ENSP00000289893:H1553Q	H	+	3	2	MACF1	39574186	0.000000	0.05858	0.012000	0.15200	0.931000	0.56810	0.051000	0.14141	0.079000	0.16929	0.563000	0.77884	CAC		PASS	0.468	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	72	4	72	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048104	42048104	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:42048104C>G	ENST00000372583.1	-	4	3250	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E789Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E789Q|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E789Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	789	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E789Q(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTTCTCCTCTCCTTCCCTGAT	0.542																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2365-2367)GAG>CAG		human immunodeficiency virus type I enhancer							43.0	45.0	44.0					1																	42048104		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048104C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2365G>C	1.37:g.42048104C>G	ENSP00000361664:p.Glu789Gln					HIVEP3_uc001cha.3_Missense_Mutation_p.E789Q|HIVEP3_uc001cgy.2_RNA	p.E789Q	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3578	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	789			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2365G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563755	0.45694	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.51	4.51	0.55191	.	0.260773	0.27240	N	0.020275	T	0.11367	0.0277	L	0.40543	1.245	0.38338	D	0.943986	P;P	0.39480	0.675;0.546	B;B	0.36666	0.23;0.115	T	0.18618	-1.0331	10	0.23302	T	0.38	-1.8258	12.1516	0.54053	0.1712:0.8288:0.0:0.0	.	789;789	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	789	ENSP00000361665:E789Q;ENSP00000361664:E789Q;ENSP00000247584:E789Q;ENSP00000410828:E789Q	ENSP00000247584:E789Q	E	-	1	0	HIVEP3	41820691	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.347000	0.73004	2.339000	0.79563	0.462000	0.41574	GAG		PASS	0.542	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		11	43	11	43	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43782880	43782880	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:43782880C>T	ENST00000372476.3	+	15	2499	c.2420C>T	c.(2419-2421)aCc>aTc	p.T807I	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.T452I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	807					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T807I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGAGGAGACCATCCTGCAG	0.607																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(2419-2421)ACC>ATC		tyrosine kinase with immunoglobulin-like and							64.0	61.0	62.0					1																	43782880		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43782880C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2420C>T	1.37:g.43782880C>T	ENSP00000361554:p.Thr807Ile					TIE1_uc010oke.1_Missense_Mutation_p.T762I|TIE1_uc009vwq.2_Missense_Mutation_p.T763I|TIE1_uc010okg.1_Missense_Mutation_p.T452I	p.T807I	NM_005424	NP_005415	P35590	TIE1_HUMAN			15	2499	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	807			Cytoplasmic (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2420C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461519	0.84317	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.76316	-0.98;-1.01	5.1	5.1	0.69264	.	0.000000	0.39341	N	0.001384	D	0.84460	0.5477	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.975;0.942;0.982	D	0.85641	0.1276	10	0.59425	D	0.04	.	18.518	0.90942	0.0:1.0:0.0:0.0	.	762;452;807	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	I	807;210;90;452	ENSP00000361554:T807I;ENSP00000411728:T452I	ENSP00000361553:T210I	T	+	2	0	TIE1	43555467	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.362000	0.80069	0.650000	0.86243	ACC		PASS	0.607	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		5	48	5	48	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47717149	47717149	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:47717149G>T	ENST00000360380.3	-	18	3886	c.3523C>A	c.(3523-3525)Cat>Aat	p.H1175N	STIL_ENST00000371877.3_Missense_Mutation_p.H1176N|STIL_ENST00000243182.6_Missense_Mutation_p.H1175N|STIL_ENST00000396221.2_Missense_Mutation_p.H1158N|STIL_ENST00000337817.5_Missense_Mutation_p.H1175N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1175					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.H1175N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTATTTCATGGTCATTCTTA	0.383																																						uc001crc.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(3523-3525)CAT>AAT		SCL/TAL1 interrupting locus isoform 2							112.0	112.0	112.0					1																	47717149		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717149G>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3523C>A	1.37:g.47717149G>T	ENSP00000353544:p.His1175Asn					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.H1129N|STIL_uc010omo.1_Missense_Mutation_p.H1158N|STIL_uc001crd.1_Missense_Mutation_p.H1176N|STIL_uc001cre.1_Missense_Mutation_p.H1175N	p.H1175N	NM_003035	NP_003026	Q15468	STIL_HUMAN			17	3678	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1175					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3523C>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.584910	0.00872	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	6.07	-1.91	0.07641	.	0.985279	0.08315	N	0.964741	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.021	B;B;B	0.20955	0.032;0.032;0.032	T	0.41070	-0.9529	10	0.02654	T	1	0.783	7.4228	0.27081	0.3916:0.3385:0.2699:0.0	.	1158;1176;1175	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	N	1175;1175;1176;1158;1175	ENSP00000353544:H1175N;ENSP00000337367:H1175N;ENSP00000360944:H1176N;ENSP00000379523:H1158N;ENSP00000243182:H1175N	ENSP00000243182:H1175N	H	-	1	0	STIL	47489736	0.011000	0.17503	0.116000	0.21606	0.565000	0.35776	0.488000	0.22371	-0.040000	0.13580	-0.482000	0.04802	CAT		PASS	0.383	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		6	91	6	91	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53728158	53728158	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:53728158C>A	ENST00000306052.6	-	11	1835	c.1734G>T	c.(1732-1734)ctG>ctT	p.L578L	LRP8_ENST00000354412.3_Silent_p.L449L|LRP8_ENST00000465675.1_Silent_p.L131L|LRP8_ENST00000371454.2_Silent_p.L578L|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.L408L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	578					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.L578L(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGTCTGACACCAGTGTTTGCC	0.512																																						uc001cvi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1732-1734)CTG>CTT		low density lipoprotein receptor-related protein							218.0	212.0	214.0					1																	53728158		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728158C>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1734G>T	1.37:g.53728158C>A						LRP8_uc001cvh.1_Silent_p.L131L|LRP8_uc001cvk.1_Silent_p.L408L|LRP8_uc001cvj.1_Silent_p.L578L|LRP8_uc001cvl.1_Silent_p.L449L|LRP8_uc001cvm.1_Silent_p.L163L	p.L578L	NM_004631	NP_004622	Q14114	LRP8_HUMAN			11	1876	-			578			LDL-receptor class B 3.|Extracellular (Potential).		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1734G>T	CCDS578.1																																																																																				PASS	0.512	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		10	236	10	236	---	---	---	---
C8B	732	broad.mit.edu	37	1	57409428	57409428	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:57409428A>T	ENST00000371237.4	-	8	1241	c.1175T>A	c.(1174-1176)gTc>gAc	p.V392D	C8B_ENST00000535057.1_Missense_Mutation_p.V330D|C8B_ENST00000543257.1_Missense_Mutation_p.V340D	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	392	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.V392D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTGACGTAGACCTCTTCAAT	0.408																																						uc001cyp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1174-1176)GTC>GAC		complement component 8, beta polypeptide							237.0	204.0	215.0					1																	57409428		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57409428A>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1175T>A	1.37:g.57409428A>T	ENSP00000360281:p.Val392Asp					C8B_uc010oon.1_Missense_Mutation_p.V330D|C8B_uc010ooo.1_Missense_Mutation_p.V340D	p.V392D	NM_000066	NP_000057	P07358	CO8B_HUMAN			8	1242	-			392			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.1175T>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680281	0.68042	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.31247	1.68;1.69;1.5	4.59	4.59	0.56863	Membrane attack complex component/perforin (MACPF) domain (3);	0.398233	0.27549	N	0.018869	T	0.47673	0.1458	M	0.69248	2.105	0.80722	D	1	D;D;D	0.61697	0.978;0.988;0.99	P;P;D	0.64877	0.777;0.885;0.93	T	0.35151	-0.9800	10	0.14252	T	0.57	-15.9825	13.7803	0.63079	1.0:0.0:0.0:0.0	.	340;330;392	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	D	392;340;330	ENSP00000360281:V392D;ENSP00000442548:V340D;ENSP00000440113:V330D	ENSP00000360281:V392D	V	-	2	0	C8B	57182016	0.896000	0.30565	0.060000	0.19600	0.029000	0.11900	3.739000	0.55075	2.289000	0.77006	0.533000	0.62120	GTC		PASS	0.408	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			13	85	13	85	---	---	---	---
PHGDH	26227	broad.mit.edu	37	1	120263815	120263815	+	Missense_Mutation	SNP	G	G	C	rs372842833		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:120263815G>C	ENST00000369409.4	+	2	297	c.161G>C	c.(160-162)cGc>cCc	p.R54P	PHGDH_ENST00000369407.3_Missense_Mutation_p.R20P	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	54					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.R54P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CTTATTGTTCGCTCTGCCACC	0.522																																						uc001ehz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)CGC>CCC		phosphoglycerate dehydrogenase	NADH(DB00157)						155.0	140.0	145.0					1																	120263815		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120263815G>C	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.161G>C	1.37:g.120263815G>C	ENSP00000358417:p.Arg54Pro					PHGDH_uc009whl.2_5'UTR|PHGDH_uc009whm.2_5'UTR|PHGDH_uc001eia.2_Missense_Mutation_p.R54P|PHGDH_uc009whn.2_Missense_Mutation_p.R54P|PHGDH_uc001eib.2_Missense_Mutation_p.R20P	p.R54P	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	2	388	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	54					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.161G>C	CCDS904.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235715	0.79800	.	.	ENSG00000092621	ENST00000369409;ENST00000369407	D;D	0.85339	-1.97;-1.97	5.92	5.92	0.95590	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93360	0.6726	10	0.87932	D	0	-20.111	18.8845	0.92370	0.0:0.0:1.0:0.0	.	20;54	Q5SZU1;O43175	.;SERA_HUMAN	P	54;20	ENSP00000358417:R54P;ENSP00000358415:R20P	ENSP00000358415:R20P	R	+	2	0	PHGDH	120065338	1.000000	0.71417	0.999000	0.59377	0.241000	0.25554	9.628000	0.98415	2.813000	0.96785	0.561000	0.74099	CGC		PASS	0.522	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		22	81	22	81	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145561622	145561622	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:145561622G>T	ENST00000355594.4	+	10	1397	c.1310G>T	c.(1309-1311)aGg>aTg	p.R437M		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	437								p.R437M(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGACCATCAGGAAAGCCACA	0.572																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1309-1311)AGG>ATG		ankyrin repeat domain 35							62.0	73.0	69.0					1																	145561622		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145561622G>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1310G>T	1.37:g.145561622G>T	ENSP00000347802:p.Arg437Met					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R280M	p.R437M	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	1418	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		437					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1310G>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623643	0.14193	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.66815	-0.23	5.95	0.753	0.18404	.	1.067600	0.07296	N	0.873298	T	0.23886	0.0578	N	0.22421	0.69	0.09310	N	1	P	0.35600	0.511	B	0.31191	0.125	T	0.23547	-1.0185	10	0.52906	T	0.07	-4.9182	1.1484	0.01780	0.2519:0.1545:0.434:0.1595	.	437	Q8N283	ANR35_HUMAN	M	346;437	ENSP00000347802:R437M	ENSP00000347802:R437M	R	+	2	0	ANKRD35	144272979	0.037000	0.19845	0.000000	0.03702	0.002000	0.02628	0.786000	0.26844	0.095000	0.17434	0.655000	0.94253	AGG		PASS	0.572	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		6	85	6	85	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128552	152128552	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:152128552G>T	ENST00000316073.3	-	3	1087	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	341	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S341S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GACCATAGTGGGAACTCTGAC	0.498																																						uc001ezs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1021-1023)TCC>TCA		repetin							740.0	645.0	674.0					1																	152128552		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128552G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1023C>A	1.37:g.152128552G>T							p.S341S	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1088	-			341			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1023C>A	CCDS41397.1																																																																																				PASS	0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		12	476	12	476	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285911	152285911	+	Missense_Mutation	SNP	C	C	G	rs369474474		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:152285911C>G	ENST00000368799.1	-	3	1486	c.1451G>C	c.(1450-1452)cGg>cCg	p.R484P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	484	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R484P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCGGTCCGTCCATGGGC	0.607									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1450-1452)CGG>CCG		filaggrin							228.0	217.0	221.0					1																	152285911		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285911C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1451G>C	1.37:g.152285911C>G	ENSP00000357789:p.Arg484Pro					uc001ezv.2_5'Flank	p.R484P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1487	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		484			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1451G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.895	0.954969	0.18431	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01725	4.67	3.04	0.677	0.17964	.	.	.	.	.	T	0.01800	0.0057	L	0.57536	1.79	0.09310	N	1	D	0.58620	0.983	P	0.61940	0.896	T	0.48269	-0.9050	9	0.33940	T	0.23	.	4.9435	0.13978	0.0:0.2751:0.0:0.7249	.	484	P20930	FILA_HUMAN	P	484;16	ENSP00000357789:R484P	ENSP00000357789:R484P	R	-	2	0	FLG	150552535	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.535000	0.02210	0.127000	0.18452	-0.521000	0.04368	CGG		PASS	0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		37	201	37	201	---	---	---	---
LCE3D	84648	broad.mit.edu	37	1	152552178	152552178	+	Missense_Mutation	SNP	C	C	A	rs555436451		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:152552178C>A	ENST00000368787.3	-	2	291	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	79					keratinization (GO:0031424)			p.G79C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GAGCCCCCGCCTTGCTGACCA	0.647																																						uc001fab.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GGC>TGC		late cornified envelope 3D							59.0	72.0	67.0					1																	152552178		2202	4300	6502	SO:0001583	missense	84648				keratinization			g.chr1:152552178C>A	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.235G>T	1.37:g.152552178C>A	ENSP00000357776:p.Gly79Cys						p.G79C	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)	2	292	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79					Q3MIL1	Missense_Mutation	SNP	ENST00000368787.3	37	c.235G>T	CCDS1014.1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509257	0.04231	.	.	ENSG00000163202	ENST00000368787	T	0.03860	3.78	3.57	0.0569	0.14321	.	.	.	.	.	T	0.01695	0.0054	.	.	.	0.09310	N	1	D	0.54964	0.969	B	0.44163	0.443	T	0.42899	-0.9424	8	0.72032	D	0.01	.	3.6539	0.08213	0.4739:0.2592:0.2669:0.0	.	79	Q9BYE3	LCE3D_HUMAN	C	79	ENSP00000357776:G79C	ENSP00000357776:G79C	G	-	1	0	LCE3D	150818802	0.023000	0.18921	0.068000	0.19968	0.250000	0.25880	0.415000	0.21181	-0.090000	0.12462	0.655000	0.94253	GGC		PASS	0.647	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1	NM_032563		9	49	9	49	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155448861	155448861	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:155448861C>A	ENST00000368346.3	-	3	4439	c.3800G>T	c.(3799-3801)aGg>aTg	p.R1267M	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1267M			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1267					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R1267M(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCGTTTCTGCCTTTTCATCTT	0.408																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3799-3801)AGG>ATG		absent, small, or homeotic 1-like							171.0	180.0	177.0					1																	155448861		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448861C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3800G>T	1.37:g.155448861C>A	ENSP00000357330:p.Arg1267Met					ASH1L_uc001fkt.2_Missense_Mutation_p.R1267M|ASH1L_uc009wqr.1_Missense_Mutation_p.R1267M	p.R1267M	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4280	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1267					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3800G>T		.	.	.	.	.	.	.	.	.	.	C	16.10	3.026496	0.54683	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.94138	-3.36;-3.36	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.98;0.991	D	0.94587	0.7784	10	0.87932	D	0	.	18.5192	0.90945	0.0:1.0:0.0:0.0	.	1267;1267	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	M	1267	ENSP00000357330:R1267M;ENSP00000376204:R1267M	ENSP00000357330:R1267M	R	-	2	0	ASH1L	153715485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.816000	0.62642	2.705000	0.92388	0.591000	0.81541	AGG		PASS	0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		27	108	27	108	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158057651	158057651	+	Splice_Site	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:158057651G>C	ENST00000359209.6	+	6	834		c.e6+1		KIRREL_ENST00000360089.4_Splice_Site|KIRREL_ENST00000368173.3_Splice_Site|KIRREL_ENST00000392272.2_Splice_Site|KIRREL_ENST00000368172.1_Splice_Site|KIRREL_ENST00000416935.2_Splice_Site			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)						excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.?(3)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGGGCTACAGGTGAGGGGGTC	0.587											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001frn.3																			3	Unknown(3)		lung(3)	ovary(1)	1						c.e6+1		kin of IRRE like precursor							43.0	41.0	41.0					1																	158057651		2203	4300	6503	SO:0001630	splice_region_variant	55243					integral to membrane		g.chr1:158057651G>C	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.767+1G>C	1.37:g.158057651G>C			OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_uc010pib.1_Splice_Site_p.R156_splice|KIRREL_uc009wsq.2_Splice_Site_p.R92_splice|KIRREL_uc001fro.3_Splice_Site_p.R54_splice	p.R256_splice	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			6	1171	+	all_hematologic(112;0.0378)							Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Splice_Site	SNP	ENST00000359209.6	37	c.767_splice	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088618	0.76756	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1484	0.86772	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIRREL	156324275	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.331000	0.96430	2.644000	0.89710	0.563000	0.77884	.		PASS	0.587	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	Intron	3	23	3	23	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158815425	158815425	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:158815425C>T	ENST00000368141.4	+	5	880	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	207	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P207S(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGAAATGTTCCCCAAAACGA	0.468																																						uc001fsz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(619-621)CCC>TCC		myeloid cell nuclear differentiation antigen							68.0	65.0	66.0					1																	158815425		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815425C>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.619C>T	1.37:g.158815425C>T	ENSP00000357123:p.Pro207Ser						p.P207S	NM_002432	NP_002423	P41218	MNDA_HUMAN			5	819	+	all_hematologic(112;0.0378)		207			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.619C>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325275	0.24080	.	.	ENSG00000163563	ENST00000368141	T	0.28895	1.59	4.0	3.06	0.35304	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	0.578449	0.13444	N	0.387441	T	0.06826	0.0174	N	0.14661	0.345	0.09310	N	1	B	0.30664	0.289	B	0.25614	0.062	T	0.22941	-1.0202	10	0.46703	T	0.11	-0.7627	9.8434	0.41013	0.0:0.7918:0.2082:0.0	.	207	P41218	MNDA_HUMAN	S	207	ENSP00000357123:P207S	ENSP00000357123:P207S	P	+	1	0	MNDA	157082049	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.819000	0.04462	0.977000	0.38444	0.655000	0.94253	CCC		PASS	0.468	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		6	40	6	40	---	---	---	---
MYOC	4653	broad.mit.edu	37	1	171621186	171621186	+	Missense_Mutation	SNP	C	C	A	rs144579767		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:171621186C>A	ENST00000037502.6	-	1	637	c.566G>T	c.(565-567)cGa>cTa	p.R189L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	189			R -> Q.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.R189L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCAGTGTCTCGGGTCTGGGG	0.567																																						uc001ghu.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(565-567)CGA>CTA		myocilin precursor							155.0	167.0	163.0					1																	171621186		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621186C>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.566G>T	1.37:g.171621186C>A	ENSP00000037502:p.Arg189Leu					MYOC_uc010pmk.1_Missense_Mutation_p.R131L	p.R189L	NM_000261	NP_000252	Q99972	MYOC_HUMAN			1	588	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		189		R -> Q.			B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.566G>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246415	0.39697	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.83755	-1.76	5.54	-9.99	0.00435	.	1.791880	0.02060	N	0.050704	T	0.51126	0.1656	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.50816	-0.8783	10	0.66056	D	0.02	.	4.9198	0.13864	0.0971:0.1255:0.1921:0.5854	.	131;189	B4DV44;Q99972	.;MYOC_HUMAN	L	189;142;122;189	ENSP00000037502:R189L	ENSP00000037502:R189L	R	-	2	0	MYOC	169887809	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-1.753000	0.01818	-1.680000	0.01450	-0.136000	0.14681	CGA		PASS	0.567	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		52	164	52	164	---	---	---	---
MRPS14	63931	broad.mit.edu	37	1	174987652	174987652	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:174987652G>T	ENST00000476371.1	-	2	122	c.106C>A	c.(106-108)Cgc>Agc	p.R36S		NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14									p.R36S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						TTCACATCGCGCCACATTCTC	0.443																																						uc001gkk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)CGC>AGC		mitochondrial ribosomal protein S14							159.0	138.0	145.0					1																	174987652		2203	4300	6503	SO:0001583	missense	63931				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr1:174987652G>T	AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.106C>A	1.37:g.174987652G>T	ENSP00000420714:p.Arg36Ser					MRPS14_uc009wwr.2_Missense_Mutation_p.R21S	p.R36S	NM_022100	NP_071383	O60783	RT14_HUMAN			2	123	-			36						Missense_Mutation	SNP	ENST00000476371.1	37	c.106C>A	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313763	0.81358	.	.	ENSG00000120333	ENST00000476371	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86433	0.1762	9	0.87932	D	0	-13.382	16.0958	0.81123	0.0:0.0:0.8658:0.1342	.	36	O60783	RT14_HUMAN	S	36	.	ENSP00000420714:R36S	R	-	1	0	MRPS14	173254275	1.000000	0.71417	0.973000	0.42090	0.769000	0.43574	4.913000	0.63341	2.659000	0.90383	0.655000	0.94253	CGC		PASS	0.443	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	NM_022100		4	61	4	61	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175053048	175053048	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:175053048C>G	ENST00000239462.4	+	5	1324	c.1211C>G	c.(1210-1212)cCc>cGc	p.P404R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	404	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P404R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAGTGACCCCAAGAGCCGA	0.542																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1210-1212)CCC>CGC		tenascin N precursor							122.0	99.0	107.0					1																	175053048		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175053048C>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1211C>G	1.37:g.175053048C>G	ENSP00000239462:p.Pro404Arg					TNN_uc010pmx.1_Missense_Mutation_p.P404R	p.P404R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	5	1324	+		Breast(1374;0.000962)	404			Fibronectin type-III 2.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1211C>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354336	0.61293	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.54071	0.59	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054287	0.85682	D	0.000000	T	0.68054	0.2959	M	0.70275	2.135	0.30500	N	0.770521	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.64867	-0.6306	10	0.16420	T	0.52	.	13.3683	0.60698	0.0:0.9237:0.0:0.0763	.	404;404	B3KXB6;Q9UQP3	.;TENN_HUMAN	R	404	ENSP00000239462:P404R	ENSP00000239462:P404R	P	+	2	0	TNN	173319671	0.978000	0.34361	1.000000	0.80357	0.989000	0.77384	3.481000	0.53179	2.572000	0.86782	0.591000	0.81541	CCC		PASS	0.542	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		9	37	9	37	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177001635	177001635	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:177001635G>T	ENST00000367654.3	-	3	1033	c.822C>A	c.(820-822)tcC>tcA	p.S274S	ASTN1_ENST00000361833.2_Silent_p.S274S|ASTN1_ENST00000424564.2_Silent_p.S274S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.S274S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	274					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.S274S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCCCTGCAGGGAGTCGAGGG	0.587																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(820-822)TCC>TCA		astrotactin isoform 1							124.0	114.0	118.0					1																	177001635		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001635G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.822C>A	1.37:g.177001635G>T						ASTN1_uc001glb.1_Silent_p.S274S|ASTN1_uc001gld.1_Silent_p.S274S|ASTN1_uc009wwx.1_Silent_p.S274S|ASTN1_uc001gle.3_RNA	p.S274S	NM_004319	NP_004310	O14525	ASTN1_HUMAN			3	1034	-			274					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.822C>A																																																																																					PASS	0.587	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	75	6	75	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147831	186147831	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:186147831C>A	ENST00000271588.4	+	104	16456	c.16227C>A	c.(16225-16227)tcC>tcA	p.S5409S	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5409					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S5409S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATCTCTCTCCAGGACTAGAA	0.438																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(16225-16227)TCC>TCA		hemicentin 1 precursor							155.0	153.0	153.0					1																	186147831		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186147831C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16227C>A	1.37:g.186147831C>A						HMCN1_uc001grs.1_Intron	p.S5409S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			104	16456	+			5409					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.16227C>A	CCDS30956.1																																																																																				PASS	0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		6	100	6	100	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196871656	196871656	+	Intron	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:196871656G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.C55F|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.C56F			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.C56F(1)|p.C55F(1)		large_intestine(2)|ovary(1)|skin(3)	6						TCCTATTACTGTGATCAAAAT	0.403																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(166-168)TGT>TTT		complement factor H-related 4 precursor							132.0	139.0	136.0					1																	196871656		2139	4283	6422	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196871656G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46929G>T	1.37:g.196871656G>T						CFHR4_uc009wyy.2_Missense_Mutation_p.C55F|CFHR4_uc001gtp.2_Missense_Mutation_p.C56F	p.C56F	NM_006684	NP_006675	Q92496	FHR4_HUMAN			2	236	+			56			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.167G>T		.	.	.	.	.	.	.	.	.	.	.	13.30	2.195788	0.38806	.	.	ENSG00000134365	ENST00000367416;ENST00000251424	D;D	0.99784	-6.74;-6.74	3.7	2.69	0.31865	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	D	0.99739	0.9897	M	0.90650	3.135	0.09310	N	1	D;P;D	0.89917	0.987;0.895;1.0	P;B;D	0.97110	0.83;0.256;1.0	D	0.98304	1.0520	9	0.87932	D	0	.	9.4932	0.38974	0.0:0.2174:0.7826:0.0	.	55;56;56	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	F	55;56	ENSP00000356386:C55F;ENSP00000251424:C56F	ENSP00000251424:C56F	C	+	2	0	CFHR4	195138279	0.033000	0.19621	0.062000	0.19696	0.010000	0.07245	1.044000	0.30329	1.775000	0.52247	0.436000	0.28706	TGT		PASS	0.403	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		4	43	4	43	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204433648	204433648	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:204433648C>A	ENST00000367187.3	-	5	1675	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	PIK3C2B_ENST00000424712.2_Silent_p.G373G	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	373					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.G373G(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGACCTCATCCCCGAGGTGCT	0.527																																						uc001haw.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(1117-1119)GGG>GGT		phosphoinositide-3-kinase, class 2 beta							132.0	119.0	123.0					1																	204433648		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204433648C>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1119G>T	1.37:g.204433648C>A						PIK3C2B_uc010pqv.1_Silent_p.G373G|PIK3C2B_uc001hax.1_Silent_p.G373G|PIK3C2B_uc009xbd.1_RNA	p.G373G	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		5	1598	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		373					O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.1119G>T	CCDS1446.1																																																																																				PASS	0.527	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		16	77	16	77	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207643415	207643415	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:207643415C>A	ENST00000367058.3	+	6	1382	c.1193C>A	c.(1192-1194)aCa>aAa	p.T398K	CR2_ENST00000367057.3_Missense_Mutation_p.T398K|CR2_ENST00000367059.3_Missense_Mutation_p.T398K|CR2_ENST00000458541.2_Missense_Mutation_p.T398K	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	398	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T398K(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCCCAAGGCACATGGGAGCCA	0.458																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1192-1194)ACA>AAA		complement component (3d/Epstein Barr virus)							83.0	74.0	77.0					1																	207643415		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643415C>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1193C>A	1.37:g.207643415C>A	ENSP00000356025:p.Thr398Lys					CR2_uc001hfv.2_Missense_Mutation_p.T398K|CR2_uc009xch.2_Missense_Mutation_p.T398K|CR2_uc009xci.1_5'Flank	p.T398K	NM_001877	NP_001868	P20023	CR2_HUMAN			6	1287	+			398			Sushi 6.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1193C>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774607	0.16051	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.09	1.07	0.20283	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55513	0.1925	L	0.52905	1.665	0.09310	N	1	P;P;P	0.51933	0.949;0.843;0.837	P;P;P	0.51453	0.67;0.48;0.541	T	0.49244	-0.8960	9	0.02654	T	1	.	4.9373	0.13946	0.0:0.5812:0.1547:0.2642	.	398;398;398	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	K	398	ENSP00000356025:T398K;ENSP00000356024:T398K;ENSP00000356026:T398K;ENSP00000404222:T398K	ENSP00000356024:T398K	T	+	2	0	CR2	205710038	0.000000	0.05858	0.005000	0.12908	0.168000	0.22595	0.136000	0.15974	0.097000	0.17492	0.561000	0.74099	ACA		PASS	0.458	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		8	28	8	28	---	---	---	---
TATDN3	128387	broad.mit.edu	37	1	212988413	212988413	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:212988413G>T	ENST00000366974.4	+	10	834	c.740G>T	c.(739-741)gGg>gTg	p.G247V	TATDN3_ENST00000532324.1_Missense_Mutation_p.G254V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000366973.4_Missense_Mutation_p.G246V|TATDN3_ENST00000526641.1_Missense_Mutation_p.G226V|TATDN3_ENST00000531963.1_3'UTR	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	247					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.G247V(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CAGGTGAAAGGGATCTCAGTG	0.423																																						uc001hjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GGG>GTG		TatD DNase domain containing 3 isoform 1							124.0	122.0	123.0					1																	212988413		2203	4300	6503	SO:0001583	missense	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212988413G>T	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.740G>T	1.37:g.212988413G>T	ENSP00000355941:p.Gly247Val					TATDN3_uc010ptj.1_3'UTR|TATDN3_uc010ptk.1_Missense_Mutation_p.G254V|TATDN3_uc001hjp.2_Missense_Mutation_p.G246V|TATDN3_uc010ptl.1_Missense_Mutation_p.G226V|TATDN3_uc010ptm.1_Missense_Mutation_p.G194V	p.G247V	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	10	834	+			247					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	c.740G>T	CCDS31019.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578438	0.86645	.	.	ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000526641;ENST00000366973	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87442	0.6178	H	0.95574	3.69	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.984;0.994;0.988;0.988;0.993	D	0.91152	0.4954	9	0.87932	D	0	-12.9765	17.8331	0.88688	0.0:0.0:1.0:0.0	.	194;226;254;246;247	B7Z2Z9;E9PNH3;G3V151;Q17R31-2;Q17R31	.;.;.;.;TATD3_HUMAN	V	254;247;226;246	.	ENSP00000355940:G246V	G	+	2	0	TATDN3	211055036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.363000	0.90103	2.499000	0.84300	0.591000	0.81541	GGG		PASS	0.423	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		7	98	7	98	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237666802	237666802	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:237666802C>A	ENST00000366574.2	+	22	2927	c.2610C>A	c.(2608-2610)agC>agA	p.S870R	RYR2_ENST00000360064.6_Missense_Mutation_p.S868R|RYR2_ENST00000542537.1_Missense_Mutation_p.S854R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	870	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S868R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGATACCAGCCAGGTACCAA	0.517																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2608-2610)AGC>AGA		cardiac muscle ryanodine receptor							86.0	88.0	87.0					1																	237666802		2054	4188	6242	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666802C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2610C>A	1.37:g.237666802C>A	ENSP00000355533:p.Ser870Arg						p.S870R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2730	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	870			Cytoplasmic (By similarity).|1.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2610C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676761	0.67928	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92495	-3.05;-3.05;-3.05	5.62	3.76	0.43208	Ryanodine receptor Ryr (1);	0.064002	0.64402	D	0.000019	D	0.93746	0.8001	M	0.80616	2.505	0.80722	D	1	D	0.59357	0.985	P	0.57057	0.812	D	0.92477	0.5990	10	0.72032	D	0.01	.	6.1739	0.20433	0.0:0.6494:0.135:0.2156	.	870	Q92736	RYR2_HUMAN	R	870;868;854	ENSP00000355533:S870R;ENSP00000353174:S868R;ENSP00000443798:S854R	ENSP00000353174:S868R	S	+	3	2	RYR2	235733425	0.998000	0.40836	1.000000	0.80357	0.903000	0.53119	0.673000	0.25203	0.846000	0.35142	0.650000	0.86243	AGC		PASS	0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	66	18	66	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237670108	237670108	+	Silent	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:237670108T>C	ENST00000366574.2	+	23	3029	c.2712T>C	c.(2710-2712)taT>taC	p.Y904Y	RYR2_ENST00000360064.6_Silent_p.Y902Y|RYR2_ENST00000542537.1_Silent_p.Y888Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	904	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Y902Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGGCAGTATGGTCCGGTAT	0.373																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2710-2712)TAT>TAC		cardiac muscle ryanodine receptor							109.0	109.0	109.0					1																	237670108		1825	4083	5908	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237670108T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2712T>C	1.37:g.237670108T>C							p.Y904Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		23	2832	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	904			Cytoplasmic (By similarity).|1.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2712T>C	CCDS55691.1																																																																																				PASS	0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	48	14	48	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237813369	237813369	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:237813369A>T	ENST00000366574.2	+	50	8022	c.7705A>T	c.(7705-7707)Ata>Tta	p.I2569L	RYR2_ENST00000360064.6_Missense_Mutation_p.I2567L|RYR2_ENST00000542537.1_Missense_Mutation_p.I2553L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2569	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I2567L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGGGATTCCATAGAAGTTTG	0.398																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7705-7707)ATA>TTA		cardiac muscle ryanodine receptor							174.0	164.0	167.0					1																	237813369		1871	4115	5986	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237813369A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7705A>T	1.37:g.237813369A>T	ENSP00000355533:p.Ile2569Leu						p.I2569L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7825	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2569			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7705A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286457	0.80803	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96396	-4.0;-4.0;-4.0	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.97464	0.9170	M	0.77616	2.38	0.80722	D	1	D	0.61697	0.99	P	0.57283	0.817	D	0.98018	1.0369	10	0.72032	D	0.01	-18.4372	16.0416	0.80687	1.0:0.0:0.0:0.0	.	2569	Q92736	RYR2_HUMAN	L	2569;2567;2553	ENSP00000355533:I2569L;ENSP00000353174:I2567L;ENSP00000443798:I2553L	ENSP00000353174:I2567L	I	+	1	0	RYR2	235879992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.283000	0.95860	2.235000	0.73313	0.533000	0.62120	ATA		PASS	0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	86	16	86	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247768907	247768907	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:247768907G>T	ENST00000320002.2	+	1	52	c.20G>T	c.(19-21)aGt>aTt	p.S7I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S7I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGCAATGAGAGTTCCCTAATG	0.463																																						uc010pyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(19-21)AGT>ATT		olfactory receptor, family 2, subfamily G,							153.0	155.0	154.0					1																	247768907		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247768907G>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.20G>T	1.37:g.247768907G>T	ENSP00000326301:p.Ser7Ile						p.S7I	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	20	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		7			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.20G>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820184	0.50633	.	.	ENSG00000177476	ENST00000320002	T	0.54675	0.56	3.64	2.71	0.32032	.	0.418315	0.17312	U	0.178826	T	0.71592	0.3358	H	0.95917	3.74	0.09310	N	1	D	0.56287	0.975	P	0.56163	0.793	T	0.65327	-0.6195	10	0.87932	D	0	.	4.6458	0.12572	0.1249:0.2293:0.6458:0.0	.	7	Q8NGZ4	OR2G3_HUMAN	I	7	ENSP00000326301:S7I	ENSP00000326301:S7I	S	+	2	0	OR2G3	245835530	0.003000	0.15002	0.058000	0.19502	0.249000	0.25844	1.553000	0.36255	2.037000	0.60232	0.486000	0.48141	AGT		PASS	0.463	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			5	27	5	27	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039414	248039414	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr1:248039414G>T	ENST00000366481.3	+	6	1132	c.1084G>T	c.(1084-1086)Gtc>Ttc	p.V362F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V362F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTTTAGGGGTCTGTCAAGA	0.552																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1084-1086)GTC>TTC		tripartite motif-containing 58							113.0	106.0	108.0					1																	248039414		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039414G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1084G>T	1.37:g.248039414G>T	ENSP00000355437:p.Val362Phe					OR2W3_uc001idp.1_Intron	p.V362F	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1132	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	362			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1084G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844942	0.32606	.	.	ENSG00000162722	ENST00000366481	T	0.74315	-0.83	4.05	0.0932	0.14476	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000093	D	0.86285	0.5896	H	0.94658	3.565	0.51233	D	0.99991	D	0.89917	1.0	D	0.85130	0.997	T	0.82598	-0.0378	10	0.87932	D	0	.	5.1083	0.14796	0.2753:0.1545:0.5702:0.0	.	362	Q8NG06	TRI58_HUMAN	F	362	ENSP00000355437:V362F	ENSP00000355437:V362F	V	+	1	0	TRIM58	246106037	1.000000	0.71417	0.008000	0.14137	0.079000	0.17450	3.204000	0.51082	0.030000	0.15379	0.650000	0.86243	GTC		PASS	0.552	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		6	26	6	26	---	---	---	---
YIPF4	84272	broad.mit.edu	37	2	32526505	32526505	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:32526505G>C	ENST00000238831.4	+	5	784	c.538G>C	c.(538-540)Gta>Cta	p.V180L		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	180						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.V180L(1)		kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCCTCTCATTGTAATAGCCCC	0.318																																						uc002rok.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GTA>CTA		Yip1 domain family, member 4							172.0	160.0	164.0					2																	32526505		2203	4298	6501	SO:0001583	missense	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32526505G>C	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.538G>C	2.37:g.32526505G>C	ENSP00000238831:p.Val180Leu						p.V180L	NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN			5	805	+	Acute lymphoblastic leukemia(172;0.155)		180			Helical; (Potential).			Missense_Mutation	SNP	ENST00000238831.4	37	c.538G>C	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829422	0.50845	.	.	ENSG00000119820	ENST00000238831	T	0.37584	1.19	5.88	5.88	0.94601	Yip1 domain (1);	0.062005	0.64402	D	0.000005	T	0.26593	0.0650	N	0.21194	0.64	0.53688	D	0.999976	B	0.11235	0.004	B	0.09377	0.004	T	0.07462	-1.0771	10	0.14656	T	0.56	.	17.3839	0.87411	0.0:0.0:1.0:0.0	.	180	Q9BSR8	YIPF4_HUMAN	L	180	ENSP00000238831:V180L	ENSP00000238831:V180L	V	+	1	0	YIPF4	32380009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.527000	0.73803	2.778000	0.95560	0.655000	0.94253	GTA		PASS	0.318	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		18	57	18	57	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32855589	32855589	+	Splice_Site	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:32855589G>T	ENST00000317907.4	+	2	319		c.e2-1			NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27									p.?(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTATATTACAGAGAGTGGATC	0.303																																						uc002rom.2																			2	Unknown(2)		lung(2)	central_nervous_system(1)	1						c.e2-1		tetratricopeptide repeat domain 27							34.0	38.0	36.0					2																	32855589		2197	4295	6492	SO:0001630	splice_region_variant	55622						protein binding	g.chr2:32855589G>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.89-1G>T	2.37:g.32855589G>T						TTC27_uc010ymx.1_Splice_Site	p.E30_splice	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			2	320	+								A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Splice_Site	SNP	ENST00000317907.4	37	c.89_splice	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878116	0.33162	.	.	ENSG00000018699	ENST00000317907	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5614	0.84567	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC27	32709093	1.000000	0.71417	0.999000	0.59377	0.269000	0.26545	6.572000	0.74005	2.706000	0.92434	0.561000	0.74099	.		PASS	0.303	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	Intron	8	36	8	36	---	---	---	---
C2orf61	285051	broad.mit.edu	37	2	47378423	47378423	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:47378423G>C	ENST00000445927.2	-	3	499	c.373C>G	c.(373-375)Ccc>Gcc	p.P125A	C2orf61_ENST00000294947.2_Missense_Mutation_p.P125A|RP11-761B3.1_ENST00000422269.1_3'UTR	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	125								p.0?(2)|p.P125A(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGTGTGCTGGGGCTTGGCCGT	0.453																																						uc002rvs.2																			4	Substitution - Missense(2)|Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)|lung(2)		0						c.(373-375)CCC>GCC		hypothetical protein LOC285051 isoform 2							125.0	118.0	120.0					2																	47378423		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47378423G>C	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.373C>G	2.37:g.47378423G>C	ENSP00000408527:p.Pro125Ala					C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Missense_Mutation_p.P125A	p.P125A	NM_173649	NP_775920	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	500	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	125					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.373C>G	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542542	0.45280	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.31510	1.49;1.52	4.97	2.04	0.26737	.	0.429445	0.19898	N	0.103566	T	0.25158	0.0611	M	0.64997	1.995	0.09310	N	0.999996	B	0.13594	0.008	B	0.17433	0.018	T	0.20438	-1.0275	10	0.23891	T	0.37	-11.075	4.5691	0.12202	0.084:0.1535:0.6037:0.1589	.	125	Q8N801	CB061_HUMAN	A	125	ENSP00000408527:P125A;ENSP00000294947:P125A	ENSP00000294947:P125A	P	-	1	0	C2orf61	47231927	0.568000	0.26635	0.959000	0.39883	0.938000	0.57974	0.554000	0.23407	0.452000	0.26830	0.467000	0.42956	CCC		PASS	0.453	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		8	57	8	57	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529786	80529786	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:80529786G>A	ENST00000295057.3	-	2	1815	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.P387S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	387					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P387S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCTGGCAGGGGGCCCCAGA	0.726										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1159-1161)CCT>TCT		leucine rich repeat transmembrane neuronal 1							16.0	18.0	17.0					2																	80529786		2185	4284	6469	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529786G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1159C>T	2.37:g.80529786G>A	ENSP00000295057:p.Pro387Ser	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.P387S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1429	-			387			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1159C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	3.688	-0.064192	0.07273	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.40225	1.04;1.04	5.04	1.86	0.25419	.	0.826018	0.10736	U	0.640055	T	0.20820	0.0501	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18587	-1.0332	9	.	.	.	.	3.1304	0.06421	0.084:0.2003:0.3962:0.3195	.	387	Q86UE6	LRRT1_HUMAN	S	387	ENSP00000295057:P387S;ENSP00000386646:P387S	.	P	-	1	0	LRRTM1	80383297	0.018000	0.18449	0.013000	0.15412	0.766000	0.43426	0.813000	0.27225	1.099000	0.41499	0.655000	0.94253	CCT		PASS	0.726	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		7	11	7	11	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874860	88874860	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:88874860G>T	ENST00000303236.3	-	13	2442	c.2141C>A	c.(2140-2142)cCt>cAt	p.P714H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P563H|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_Intron	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.P714H(1)		ovary(3)	3						TTGTGGTGAAGGAGCTATGAT	0.453																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2140-2142)CCT>CAT		eukaryotic translation initiation factor 2-alpha							167.0	171.0	169.0					2																	88874860		2203	4300	6503	SO:0001583	missense	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.chr2:88874860G>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.2141C>A	2.37:g.88874860G>T	ENSP00000307235:p.Pro714His						p.P714H	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			13	2343	-			714			Cytoplasmic (Potential).|Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2141C>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071798	0.76301	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74526	-0.74;-0.68;-0.85	6.06	6.06	0.98353	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100712	0.64402	D	0.000002	T	0.80752	0.4683	L	0.48642	1.525	0.51233	D	0.999914	D	0.69078	0.997	P	0.57283	0.817	T	0.76761	-0.2840	10	0.34782	T	0.22	-19.8839	20.6208	0.99490	0.0:0.0:1.0:0.0	.	714	Q9NZJ5	E2AK3_HUMAN	H	563;714;563;593	ENSP00000408325:P563H;ENSP00000307235:P714H;ENSP00000412076:P593H	ENSP00000307235:P714H	P	-	2	0	EIF2AK3	88655975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.684000	0.61686	2.882000	0.98803	0.655000	0.94253	CCT		PASS	0.453	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		7	117	7	117	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111398613	111398613	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:111398613G>T	ENST00000302759.6	-	23	3071	c.2953C>A	c.(2953-2955)Cag>Aag	p.Q985K	BUB1_ENST00000478175.1_5'Flank|BUB1_ENST00000535254.1_Missense_Mutation_p.Q965K|BUB1_ENST00000409311.1_Missense_Mutation_p.Q928K	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	985	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q985K(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTTATACCTGGTAGTTCCAT	0.368																																						uc002tgc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(2953-2955)CAG>AAG		budding uninhibited by benzimidazoles 1							69.0	67.0	68.0					2																	111398613		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398613G>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2953C>A	2.37:g.111398613G>T	ENSP00000302530:p.Gln985Lys					BUB1_uc010yxh.1_Missense_Mutation_p.Q965K|BUB1_uc010fkb.2_Missense_Mutation_p.Q928K	p.Q985K	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	23	3065	-		Ovarian(717;0.0822)	985			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.2953C>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031324	0.93575	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759	T;T;T	0.15952	2.38;2.38;2.38	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.48362	1.52	0.80722	D	1	D;P;D	0.89917	1.0;0.952;1.0	D;P;D	0.80764	0.948;0.606;0.994	T	0.03945	-1.0990	10	0.66056	D	0.02	-7.1523	17.8985	0.88896	0.0:0.0:1.0:0.0	.	965;928;985	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	K	965;928;985	ENSP00000441013:Q965K;ENSP00000386701:Q928K;ENSP00000302530:Q985K	ENSP00000302530:Q985K	Q	-	1	0	BUB1	111115085	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.743000	0.98849	2.652000	0.90054	0.655000	0.94253	CAG		PASS	0.368	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		5	49	5	49	---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121106938	121106938	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:121106938T>G	ENST00000295228.3	+	2	758	c.712T>G	c.(712-714)Ttg>Gtg	p.L238V		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	238					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)	p.L238V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CATCCAGGCCTTGTTTGAGCG	0.647																																						uc002tmn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(712-714)TTG>GTG		inhibin beta B subunit preproprotein							95.0	99.0	97.0					2																	121106938		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106938T>G		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.712T>G	2.37:g.121106938T>G	ENSP00000295228:p.Leu238Val						p.L238V	NM_002193	NP_002184	P09529	INHBB_HUMAN			2	758	+		Prostate(154;0.122)	238					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.712T>G	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324308	0.24080	.	.	ENSG00000163083	ENST00000295228	T	0.64260	-0.09	4.82	-2.96	0.05547	Transforming growth factor-beta, N-terminal (1);	0.320396	0.24983	N	0.034058	T	0.44891	0.1315	L	0.28192	0.835	0.19300	N	0.99997	B	0.19935	0.04	B	0.26864	0.074	T	0.33059	-0.9883	10	0.44086	T	0.13	-17.2918	11.4583	0.50195	0.0:0.418:0.0:0.582	.	238	P09529	INHBB_HUMAN	V	238	ENSP00000295228:L238V	ENSP00000295228:L238V	L	+	1	2	INHBB	120823408	0.036000	0.19791	0.788000	0.31933	0.977000	0.68977	-0.081000	0.11321	-0.720000	0.04935	-0.250000	0.11733	TTG		PASS	0.647	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			7	82	7	82	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121742113	121742113	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:121742113C>A	ENST00000452319.1	+	12	1810	c.1750C>A	c.(1750-1752)Cat>Aat	p.H584N	GLI2_ENST00000361492.4_Missense_Mutation_p.H584N|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.H256N					GLI family zinc finger 2									p.H584N(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCTCCGGAAGCATGTGAAAAC	0.572																																						uc010flp.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1750-1752)CAT>AAT		GLI-Kruppel family member GLI2							165.0	161.0	162.0					2																	121742113		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121742113C>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1750C>A	2.37:g.121742113C>A	ENSP00000390436:p.His584Asn					GLI2_uc002tmq.1_Missense_Mutation_p.H256N|GLI2_uc002tmr.1_Missense_Mutation_p.H239N|GLI2_uc002tmt.3_Missense_Mutation_p.H256N|GLI2_uc002tmu.3_Missense_Mutation_p.H239N|GLI2_uc002tmw.1_Missense_Mutation_p.H567N	p.H584N	NM_005270	NP_005261	P10070	GLI2_HUMAN			11	1780	+	Renal(3;0.0496)	Prostate(154;0.0623)	584			C2H2-type 5.			Missense_Mutation	SNP	ENST00000452319.1	37	c.1750C>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796657	0.90453	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.99974	-10.2;-10.2;-10.2	4.48	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	H	0.94925	3.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0	D	0.97078	0.9782	10	0.87932	D	0	.	17.3574	0.87340	0.0:1.0:0.0:0.0	.	584;567;239;239;256	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	N	584;584;256	ENSP00000390436:H584N;ENSP00000354586:H584N;ENSP00000312694:H256N	ENSP00000312694:H256N	H	+	1	0	GLI2	121458583	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.645000	0.83430	2.309000	0.77851	0.561000	0.74099	CAT		PASS	0.572	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		20	199	20	199	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155158018	155158018	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:155158018G>T	ENST00000392825.3	+	9	1639	c.1072G>T	c.(1072-1074)Ggt>Tgt	p.G358C	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.G358C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	358					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G358C(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGGTGGCACTGGTCATGTCAT	0.438																																						uc002tyr.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1072-1074)GGT>TGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							215.0	209.0	211.0					2																	155158018		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155158018G>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1072G>T	2.37:g.155158018G>T	ENSP00000376570:p.Gly358Cys					GALNT13_uc002tyt.3_Missense_Mutation_p.G358C|GALNT13_uc010foc.1_Missense_Mutation_p.G177C|GALNT13_uc010fod.2_Missense_Mutation_p.G111C	p.G358C	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			9	1639	+			358			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1072G>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954942	0.73902	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.71461	-0.57;-0.57	5.36	5.36	0.76844	.	0.097811	0.64402	D	0.000001	T	0.80486	0.4632	M	0.86740	2.835	0.80722	D	1	P;P;D;P	0.60160	0.715;0.729;0.987;0.851	B;B;P;B	0.48270	0.309;0.212;0.572;0.271	D	0.84901	0.0842	10	0.72032	D	0.01	.	18.4424	0.90671	0.0:0.0:1.0:0.0	.	358;358;358;358	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	C	358	ENSP00000376570:G358C;ENSP00000387239:G358C	ENSP00000376570:G358C	G	+	1	0	GALNT13	154866264	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	9.706000	0.98722	2.673000	0.90976	0.655000	0.94253	GGT		PASS	0.438	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		7	85	7	85	---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157425354	157425354	+	Silent	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:157425354C>T	ENST00000310454.6	+	10	1555	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	GPD2_ENST00000438166.2_Silent_p.L395L|GPD2_ENST00000409674.1_Silent_p.L395L|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Silent_p.L168L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	395					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.L395L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGGGGATGTCCTGGCAGCATG	0.398																																						uc002tzf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1183-1185)CTG>TTG		glycerol-3-phosphate dehydrogenase 2,							181.0	167.0	172.0					2																	157425354		2203	4300	6503	SO:0001819	synonymous_variant	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157425354C>T		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1183C>T	2.37:g.157425354C>T						GPD2_uc010zch.1_Silent_p.L168L|GPD2_uc002tzd.3_Silent_p.L395L|GPD2_uc002tze.1_RNA	p.L395L	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			10	1543	+			395					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	c.1183C>T	CCDS2202.1																																																																																				PASS	0.398	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			8	34	8	34	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168097247	168097247	+	Splice_Site	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:168097247G>A	ENST00000409728.1	+	8	1230		c.e8+1		XIRP2_ENST00000295237.9_Splice_Site|XIRP2_ENST00000409756.2_Splice_Site|XIRP2_ENST00000420519.1_Splice_Site|XIRP2_ENST00000409605.1_Splice_Site|XIRP2_ENST00000409043.1_Splice_Site|XIRP2_ENST00000409273.1_Splice_Site|XIRP2_ENST00000409195.1_Splice_Site	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.?(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAGAAACTGGTAAGAGTCTG	0.373																																						uc002udx.2																			2	Unknown(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.e6+1		xin actin-binding repeat containing 2 isoform 1							110.0	105.0	107.0					2																	168097247		1855	4084	5939	SO:0001630	splice_region_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168097247G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1141+1G>A	2.37:g.168097247G>A						XIRP2_uc010fpn.2_Splice_Site_p.V381_splice|XIRP2_uc010fpo.2_Splice_Site_p.V348_splice|XIRP2_uc010fpp.2_Splice_Site_p.V348_splice|XIRP2_uc002udy.2_Splice_Site_p.V173_splice|XIRP2_uc010fpq.2_Splice_Site_p.V126_splice|XIRP2_uc010fpr.2_Splice_Site_p.V126_splice	p.V348_splice	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			6	1060	+								A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Splice_Site	SNP	ENST00000409728.1	37	c.1042_splice	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454170	0.63290	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2687	0.87095	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XIRP2	167805493	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	5.721000	0.68477	2.756000	0.94617	0.655000	0.94253	.		PASS	0.373	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	Intron	5	48	5	48	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170030452	170030452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:170030452G>T	ENST00000263816.3	-	56	11276	c.10991C>A	c.(10990-10992)tCg>tAg	p.S3664*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3664	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S3664*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGGCTCATCCGAGTGGTCTCC	0.577																																						uc002ues.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(10990-10992)TCG>TAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						115.0	100.0	105.0					2																	170030452		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170030452G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10991C>A	2.37:g.170030452G>T	ENSP00000263816:p.Ser3664*						p.S3664*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	56	11204	-			3664			LDL-receptor class A 29.|Extracellular (Potential).		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.10991C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	53	20.557764	0.99932	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.08	0.93178	0.0:0.0:1.0:0.0	.	.	.	.	X	3664;359	.	ENSP00000263816:S3664X	S	-	2	0	LRP2	169738698	1.000000	0.71417	0.531000	0.27976	0.287000	0.27160	9.869000	0.99810	2.516000	0.84829	0.650000	0.86243	TCG		PASS	0.577	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	69	5	69	---	---	---	---
HJURP	55355	broad.mit.edu	37	2	234762542	234762542	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:234762542G>C	ENST00000411486.2	-	2	197	c.132C>G	c.(130-132)ttC>ttG	p.F44L	HJURP_ENST00000432087.1_Missense_Mutation_p.F44L|HJURP_ENST00000441687.1_Missense_Mutation_p.F44L	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	44					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.F44L(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGGTGTCCTCGAAGGGCTGGT	0.642																																						uc002vvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)TTC>TTG		Holliday junction recognition protein							160.0	146.0	151.0					2																	234762542		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234762542G>C		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.132C>G	2.37:g.234762542G>C	ENSP00000414109:p.Phe44Leu					HJURP_uc010znd.1_Missense_Mutation_p.F37L|HJURP_uc010zne.1_Missense_Mutation_p.F37L	p.F44L	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	2	198	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	44					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.132C>G	CCDS33406.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.34|17.34	3.365423|3.365423	0.61513|0.61513	.|.	.|.	ENSG00000123485|ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924|ENST00000454020	T;T;T;T|T	0.41400|0.36520	1.0;1.0;1.0;1.0|1.25	4.03|4.03	0.0932|0.0932	0.14476|0.14476	Centromere protein Scm3, N-terminal (1);|.	0.247728|.	0.27836|.	N|.	0.017650|.	T|T	0.29389|0.29389	0.0732|0.0732	L|L	0.34521|0.34521	1.04|1.04	0.25202|0.25202	N|N	0.990045|0.990045	P;P;P|.	0.38565|.	0.584;0.584;0.637|.	B;B;P|.	0.46758|.	0.391;0.27;0.526|.	T|T	0.31447|0.31447	-0.9943|-0.9943	10|7	0.87932|0.87932	D|D	0|0	-11.5454|-11.5454	5.9367|5.9367	0.19169|0.19169	0.5151:0.0:0.4849:0.0|0.5151:0.0:0.4849:0.0	.|.	44;44;44|.	Q8NCD3-3;Q8NCD3-2;Q8NCD3|.	.;.;HJURP_HUMAN|.	L|G	44|36	ENSP00000414109:F44L;ENSP00000407208:F44L;ENSP00000401944:F44L;ENSP00000393253:F44L|ENSP00000414051:R36G	ENSP00000414109:F44L|ENSP00000414051:R36G	F|R	-|-	3|1	2|2	HJURP|HJURP	234427281|234427281	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.503000|0.503000	0.33858|0.33858	0.736000|0.736000	0.26130|0.26130	0.114000|0.114000	0.18032|0.18032	0.655000|0.655000	0.94253|0.94253	TTC|CGA		PASS	0.642	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		4	69	4	69	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242373648	242373648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr2:242373648G>T	ENST00000264042.3	+	10	1113	c.943G>T	c.(943-945)Gag>Tag	p.E315*	FARP2_ENST00000373287.4_Nonsense_Mutation_p.E315*|FARP2_ENST00000545004.1_Nonsense_Mutation_p.E315*	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	315	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E315*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GATTTGTGTGGAGTATCACAC	0.428																																						uc002wbi.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(943-945)GAG>TAG		FERM, RhoGEF and pleckstrin domain protein 2							155.0	158.0	157.0					2																	242373648		2203	4300	6503	SO:0001587	stop_gained	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373648G>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.943G>T	2.37:g.242373648G>T	ENSP00000264042:p.Glu315*					FARP2_uc010zoq.1_Nonsense_Mutation_p.E315*|FARP2_uc010zor.1_Nonsense_Mutation_p.E315*	p.E315*	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1060	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	315			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Nonsense_Mutation	SNP	ENST00000264042.3	37	c.943G>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	40	8.373994	0.98781	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	.	.	.	5.21	5.21	0.72293	.	0.054439	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.755	0.91828	0.0:0.0:1.0:0.0	.	.	.	.	X	315;315;315;2	.	ENSP00000264042:E315X	E	+	1	0	FARP2	242022321	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.498000	0.97972	2.420000	0.82092	0.563000	0.77884	GAG		PASS	0.428	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			6	74	6	74	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5249922	5249922	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:5249922G>T	ENST00000256497.4	+	8	1616	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	EDEM1_ENST00000445686.1_Missense_Mutation_p.V300L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	495					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.V495L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ACCAGAGTTAGTGGAATCCAC	0.463																																						uc003bqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1483-1485)GTG>TTG		ER degradation enhancer, mannosidase alpha-like							120.0	115.0	117.0					3																	5249922		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5249922G>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1483G>T	3.37:g.5249922G>T	ENSP00000256497:p.Val495Leu					EDEM1_uc011asz.1_Missense_Mutation_p.V273L|EDEM1_uc003bqh.2_Missense_Mutation_p.V495L	p.V495L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	8	1615	+			495			Lumenal (Potential).		A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1483G>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868107	0.72065	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.74947	-0.89;-0.89	5.62	5.62	0.85841	.	0.054506	0.64402	D	0.000001	T	0.73869	0.3642	L	0.39020	1.185	0.80722	D	1	B;P	0.42871	0.047;0.792	B;P	0.47251	0.037;0.542	T	0.70594	-0.4829	9	.	.	.	-31.5797	19.6632	0.95882	0.0:0.0:1.0:0.0	.	300;495	B4DXP3;Q92611	.;EDEM1_HUMAN	L	495;300	ENSP00000256497:V495L;ENSP00000394099:V300L	.	V	+	1	0	EDEM1	5224922	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	9.394000	0.97261	2.625000	0.88918	0.655000	0.94253	GTG		PASS	0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		17	37	17	37	---	---	---	---
SH3BP5	9467	broad.mit.edu	37	3	15301308	15301308	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:15301308G>T	ENST00000383791.3	-	6	849	c.629C>A	c.(628-630)cCt>cAt	p.P210H	SH3BP5_ENST00000408919.3_Missense_Mutation_p.P53H|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.P53H|SH3BP5_ENST00000426925.1_Missense_Mutation_p.P53H|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5-AS1_ENST00000413977.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	210					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)	p.P210H(1)		NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TTCAAAATAAGGCCTGCAGAA	0.448																																						uc003bzp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)CCT>CAT		SH3-domain binding protein 5 (BTK-associated)							122.0	113.0	116.0					3																	15301308		2203	4300	6503	SO:0001583	missense	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15301308G>T	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.629C>A	3.37:g.15301308G>T	ENSP00000373301:p.Pro210His					SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_Missense_Mutation_p.P53H|SH3BP5_uc003bzr.1_Missense_Mutation_p.P53H|uc003bzo.1_RNA	p.P210H	NM_004844	NP_004835	O60239	3BP5_HUMAN			6	818	-			210					B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	c.629C>A	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889747	0.91889	.	.	ENSG00000131370	ENST00000383791;ENST00000426925;ENST00000253688;ENST00000408919;ENST00000366391	T;T	0.77620	-1.11;2.32	5.36	5.36	0.76844	.	0.048277	0.85682	D	0.000000	D	0.89005	0.6592	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90216	0.4268	10	0.87932	D	0	-6.6517	18.7334	0.91744	0.0:0.0:1.0:0.0	.	210	O60239	3BP5_HUMAN	H	210;53;53;53;53	ENSP00000373301:P210H;ENSP00000394115:P53H	ENSP00000253688:P53H	P	-	2	0	SH3BP5	15276312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.582000	0.98214	2.534000	0.85438	0.555000	0.69702	CCT		PASS	0.448	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		9	164	9	164	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38805039	38805039	+	Silent	SNP	T	T	G	rs150977149	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:38805039T>G	ENST00000449082.2	-	5	647	c.648A>C	c.(646-648)acA>acC	p.T216T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	216					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T216T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAACTCTGAATGTCCGCAGGC	0.463																																						uc003ciq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(646-648)ACA>ACC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	T		1,4405	2.1+/-5.4	0,1,2202	159.0	154.0	156.0		648	-9.1	0.4	3	dbSNP_134	156	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	SCN10A	NM_006514.2		0,11,6492	GG,GT,TT		0.1163,0.0227,0.0846		216/1957	38805039	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38805039T>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.648A>C	3.37:g.38805039T>G							p.T216T	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	5	648	-			216			I.|Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.648A>C	CCDS33736.1																																																																																				PASS	0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		11	54	11	54	---	---	---	---
SLC26A6	65010	broad.mit.edu	37	3	48664368	48664368	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:48664368T>C	ENST00000395550.2	-	18	2061	c.2014A>G	c.(2014-2016)Atc>Gtc	p.I672V	SLC26A6_ENST00000383733.3_Missense_Mutation_p.I653V|SLC26A6_ENST00000337000.8_Missense_Mutation_p.I564V|SLC26A6_ENST00000455886.2_Missense_Mutation_p.I636V|SLC26A6_ENST00000420764.2_Missense_Mutation_p.I671V|SLC26A6_ENST00000358747.6_Missense_Mutation_p.I651V			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	672	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.I672V(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGGTCCAGGATGAGGCTGTGG	0.597																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(12172-12174)ATC>GTC		cadherin EGF LAG seven-pass G-type receptor 3							87.0	95.0	92.0					3																	48664368		2032	4179	6211	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48664368T>C	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.2014A>G	3.37:g.48664368T>C	ENSP00000378920:p.Ile672Val					SLC26A6_uc003cug.2_Missense_Mutation_p.I651V|SLC26A6_uc003cuh.2_Missense_Mutation_p.I672V|SLC26A6_uc010hke.2_Missense_Mutation_p.I504V|SLC26A6_uc003cuk.2_Missense_Mutation_p.I564V|SLC26A6_uc003cui.2_Missense_Mutation_p.I671V|SLC26A6_uc003cuj.2_Missense_Mutation_p.I653V|SLC26A6_uc011bbp.1_Missense_Mutation_p.I636V	p.I4058V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	53	12172	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.12172A>G	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378904	0.42207	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.09	-3.87	0.04218	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	D	0.84065	0.5390	L	0.47078	1.49	0.23528	N	0.997486	P;B;P;B;B;B;B	0.39480	0.484;0.004;0.675;0.042;0.04;0.102;0.002	B;B;B;B;B;B;B	0.38225	0.268;0.007;0.254;0.071;0.075;0.116;0.017	T	0.73830	-0.3859	9	0.45353	T	0.12	.	14.2094	0.65755	0.0:0.1153:0.0:0.8847	.	636;666;564;653;671;672;4058	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	V	671;672;653;564;666;651;636	ENSP00000404684:I671V;ENSP00000378920:I672V;ENSP00000373239:I653V;ENSP00000337648:I564V;ENSP00000351597:I651V;ENSP00000401066:I636V	ENSP00000337648:I564V	I	-	1	0	SLC26A6	48639372	0.412000	0.25392	0.230000	0.23976	0.767000	0.43475	0.164000	0.16542	-0.702000	0.05056	-0.326000	0.08463	ATC		PASS	0.597	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		10	50	10	50	---	---	---	---
IQCF2	389123	broad.mit.edu	37	3	51895936	51895936	+	Silent	SNP	A	A	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:51895936A>C	ENST00000333127.3	+	2	110	c.81A>C	c.(79-81)acA>acC	p.T27T	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	27								p.T27T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AATGGAAGACATTGCAGAAGA	0.328																																						uc003dbt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)ACA>ACC		IQ motif containing F2							88.0	90.0	89.0					3																	51895936		2203	4300	6503	SO:0001819	synonymous_variant	389123							g.chr3:51895936A>C	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.81A>C	3.37:g.51895936A>C						IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	p.T27T	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	119	+			27						Silent	SNP	ENST00000333127.3	37	c.81A>C	CCDS2835.1																																																																																				PASS	0.328	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		10	43	10	43	---	---	---	---
GNL3	26354	broad.mit.edu	37	3	52724612	52724612	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:52724612G>T	ENST00000418458.1	+	7	719	c.546G>T	c.(544-546)ctG>ctT	p.L182L	SNORD19_ENST00000391191.1_RNA|SNORD19B_ENST00000516978.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000459623.1_RNA|GNL3_ENST00000394799.2_Silent_p.L170L|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	182	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.L182L(1)		breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TATCAGATCTGGTACCAAAGG	0.473																																						uc003dfd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CTG>CTT		guanine nucleotide binding protein-like 3							179.0	204.0	196.0					3																	52724612		2203	4300	6503	SO:0001819	synonymous_variant	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52724612G>T	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.546G>T	3.37:g.52724612G>T						GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.L170L|GNL3_uc003dff.2_Silent_p.L170L|SNORD19B_uc010hml.1_5'Flank|SNORD69_uc003dfh.1_5'Flank	p.L182L	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	7	719	+			182					B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	ENST00000418458.1	37	c.546G>T	CCDS2861.1																																																																																				PASS	0.473	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366		8	284	8	284	---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54905622	54905622	+	Missense_Mutation	SNP	G	G	T	rs552728493		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:54905622G>T	ENST00000474759.1	+	18	1731	c.1683G>T	c.(1681-1683)gaG>gaT	p.E561D	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E467D|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E561D|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E561D	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	561						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E561D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACCTCTCTGAGGTGGAGTGGG	0.473																																						uc003dhf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1681-1683)GAG>GAT		calcium channel, voltage-dependent, alpha							174.0	171.0	172.0					3																	54905622		1954	4146	6100	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54905622G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1683G>T	3.37:g.54905622G>T	ENSP00000419101:p.Glu561Asp					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E467D|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E295D	p.E561D	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	18	1731	+			561			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1683G>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081873	0.76528	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.44	1.55	0.23275	.	0.112572	0.64402	D	0.000011	T	0.30696	0.0773	M	0.92026	3.265	0.41158	D	0.986078	P	0.45283	0.855	P	0.56474	0.799	T	0.07966	-1.0745	10	0.36615	T	0.2	-13.9382	9.354	0.38155	0.3205:0.0:0.6795:0.0	.	561	Q8IZS8	CA2D3_HUMAN	D	561;561;561;467;467;460	ENSP00000389506:E561D;ENSP00000419101:E561D;ENSP00000288197:E561D;ENSP00000417279:E467D	ENSP00000288197:E561D	E	+	3	2	CACNA2D3	54880662	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	0.708000	0.25719	0.431000	0.26258	0.563000	0.77884	GAG		PASS	0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			6	86	6	86	---	---	---	---
FAM208A	23272	broad.mit.edu	37	3	56661628	56661628	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:56661628G>T	ENST00000493960.2	-	20	4022	c.4012C>A	c.(4012-4014)Cca>Aca	p.P1338T	FAM208A_ENST00000485156.1_5'Flank|FAM208A_ENST00000431842.2_Missense_Mutation_p.P901T|FAM208A_ENST00000355628.5_Missense_Mutation_p.P1277T	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1338							poly(A) RNA binding (GO:0044822)	p.P901T(1)|p.P1277T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ACAACCTCTGGGTTTAGAATT	0.353																																						uc003did.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3829-3831)CCA>ACA		retinoblastoma-associated protein 140 isoform b							95.0	93.0	94.0					3																	56661628		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56661628G>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.4012C>A	3.37:g.56661628G>T	ENSP00000417509:p.Pro1338Thr					C3orf63_uc003dib.3_Missense_Mutation_p.P396T|C3orf63_uc003dic.3_Missense_Mutation_p.P901T|C3orf63_uc003die.3_Missense_Mutation_p.P1338T	p.P1277T	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	19	3930	-			1338					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.3829C>A	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079601	0.76528	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.55930	0.49;0.49;0.49	5.56	4.68	0.58851	.	0.094112	0.47093	D	0.000250	T	0.68403	0.2997	M	0.67953	2.075	0.47949	D	0.99955	D;D;D;D	0.63880	0.988;0.985;0.993;0.986	P;P;P;P	0.61800	0.894;0.847;0.894;0.638	T	0.73161	-0.4070	10	0.72032	D	0.01	-4.1203	16.1546	0.81649	0.0:0.0:0.8655:0.1345	.	1338;1277;901;1338	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	T	901;1338;1277	ENSP00000399410:P901T;ENSP00000417509:P1338T;ENSP00000347845:P1277T	ENSP00000347845:P1277T	P	-	1	0	C3orf63	56636668	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.474000	0.81024	1.469000	0.48083	0.591000	0.81541	CCA		PASS	0.353	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		5	49	5	49	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108373066	108373066	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:108373066A>T	ENST00000361582.3	+	19	2338	c.2108A>T	c.(2107-2109)aAa>aTa	p.K703I	DZIP3_ENST00000463306.1_Missense_Mutation_p.K703I	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	703					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K703I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGACTTATAAAAGATGATGCA	0.403																																						uc003dxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2107-2109)AAA>ATA		DAZ interacting protein 3, zinc finger							165.0	146.0	153.0					3																	108373066		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108373066A>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2108A>T	3.37:g.108373066A>T	ENSP00000355028:p.Lys703Ile					DZIP3_uc003dxf.1_Missense_Mutation_p.K703I|DZIP3_uc011bhm.1_Missense_Mutation_p.K154I|DZIP3_uc003dxg.1_Missense_Mutation_p.K426I	p.K703I	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			19	2530	+			703					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2108A>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631908	0.29068	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.34472	1.36;1.36	4.81	1.01	0.19927	.	0.394415	0.21660	N	0.071025	T	0.44138	0.1279	L	0.47716	1.5	0.24222	N	0.995432	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	T	0.24190	-1.0167	10	0.87932	D	0	-4.5425	6.8507	0.24012	0.7349:0.0:0.2651:0.0	.	321;703	D3DN61;Q86Y13	.;DZIP3_HUMAN	I	703	ENSP00000355028:K703I;ENSP00000419981:K703I	ENSP00000355028:K703I	K	+	2	0	DZIP3	109855756	0.983000	0.35010	0.269000	0.24586	0.083000	0.17756	0.747000	0.26290	0.046000	0.15833	-0.361000	0.07541	AAA		PASS	0.403	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		11	37	11	37	---	---	---	---
SLC35A5	55032	broad.mit.edu	37	3	112300035	112300035	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:112300035G>T	ENST00000492406.1	+	6	1354	c.1071G>T	c.(1069-1071)ctG>ctT	p.L357L	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	357					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.L357L(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GGCCCTCCCTGGAATTTTTCT	0.458																																						uc003dze.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1069-1071)CTG>CTT		solute carrier family 35, member A5							62.0	64.0	63.0					3																	112300035		2203	4299	6502	SO:0001819	synonymous_variant	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112300035G>T	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1071G>T	3.37:g.112300035G>T							p.L357L	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN			6	1316	+			357			Helical; (Potential).		D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Silent	SNP	ENST00000492406.1	37	c.1071G>T	CCDS2967.1																																																																																				PASS	0.458	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		5	31	5	31	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112357818	112357818	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:112357818T>A	ENST00000206423.3	-	2	1888	c.935A>T	c.(934-936)aAa>aTa	p.K312I	CCDC80_ENST00000439685.2_Missense_Mutation_p.K312I|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	312					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.K312I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGGGTCCTCTTTCTTCTTCTC	0.607																																						uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(934-936)AAA>ATA		steroid-sensitive protein 1 precursor							126.0	115.0	119.0					3																	112357818		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357818T>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.935A>T	3.37:g.112357818T>A	ENSP00000206423:p.Lys312Ile					CCDC80_uc011bhv.1_Missense_Mutation_p.K312I|CCDC80_uc003dzg.2_Missense_Mutation_p.K312I|CCDC80_uc003dzh.1_Missense_Mutation_p.K312I	p.K312I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	1153	-			312					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.935A>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969518	0.53614	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.47869	0.83;0.83	4.5	3.34	0.38264	.	0.439319	0.24282	N	0.039889	T	0.50786	0.1636	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.65443	0.935;0.905;0.921	T	0.51188	-0.8737	10	0.72032	D	0.01	-10.3035	9.8834	0.41247	0.0:0.0813:0.0:0.9187	.	323;312;312	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	I	312	ENSP00000206423:K312I;ENSP00000411814:K312I	ENSP00000206423:K312I	K	-	2	0	CCDC80	113840508	1.000000	0.71417	0.992000	0.48379	0.339000	0.28857	4.609000	0.61148	0.754000	0.32968	0.454000	0.30748	AAA		PASS	0.607	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		21	62	21	62	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121206859	121206859	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:121206859G>T	ENST00000264233.5	-	16	5047	c.4919C>A	c.(4918-4920)cCa>cAa	p.P1640Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1640					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P1775Q(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGCAGTCCTGGACTTAGATC	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4918-4920)CCA>CAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							138.0	142.0	140.0					3																	121206859		2203	4299	6502	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206859G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4919C>A	3.37:g.121206859G>T	ENSP00000264233:p.Pro1640Gln					POLQ_uc003eed.2_Missense_Mutation_p.P812Q	p.P1640Q	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5048	-			1640					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4919C>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301507	0.81136	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.78595	-1.19	6.06	6.06	0.98353	.	0.109289	0.64402	D	0.000005	D	0.84786	0.5549	L	0.36672	1.1	0.43103	D	0.994797	D;D	0.89917	1.0;1.0	D;D	0.97110	0.975;1.0	D	0.85262	0.1051	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1640;812	O75417;O75417-2	DPOLQ_HUMAN;.	Q	1263;1640;1776	ENSP00000264233:P1640Q	ENSP00000264233:P1640Q	P	-	2	0	POLQ	122689549	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.144000	0.77357	2.882000	0.98803	0.655000	0.94253	CCA		PASS	0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		6	90	6	90	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122641184	122641184	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:122641184C>A	ENST00000357599.3	-	11	1769	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E515D|SEMA5B_ENST00000195173.4_Missense_Mutation_p.E461D	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	461	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E461D(1)|p.E515D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGACACAGGGCTCGGGTGTCA	0.637																																						uc003efz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1381-1383)GAG>GAT		semaphorin 5B isoform 1							49.0	45.0	46.0					3																	122641184		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122641184C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1383G>T	3.37:g.122641184C>A	ENSP00000350215:p.Glu461Asp					SEMA5B_uc011bju.1_Missense_Mutation_p.E403D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E461D|SEMA5B_uc010hro.1_Missense_Mutation_p.E403D|SEMA5B_uc010hrp.1_RNA	p.E461D	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	11	1687	-			461			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1383G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527376	0.27299	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.29	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.051707	0.85682	D	0.000000	T	0.03959	0.0111	N	0.02674	-0.535	0.38941	D	0.958144	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.004;0.004	T	0.45101	-0.9284	10	0.14252	T	0.57	.	10.4841	0.44711	0.1264:0.6706:0.203:0.0	.	403;461;461	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	D	461;461;403;515;461	ENSP00000350215:E461D;ENSP00000195173:E461D;ENSP00000389588:E515D;ENSP00000377208:E461D	ENSP00000195173:E461D	E	-	3	2	SEMA5B	124123874	0.987000	0.35691	1.000000	0.80357	0.963000	0.63663	0.217000	0.17603	2.759000	0.94783	0.591000	0.81541	GAG		PASS	0.637	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		7	19	7	19	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123339143	123339143	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:123339143G>T	ENST00000475616.1	-	29	5278	c.5279C>A	c.(5278-5280)tCt>tAt	p.S1760Y	MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000578202.1_5'UTR|MYLK_ENST00000360772.3_Missense_Mutation_p.S1709Y|MYLK_ENST00000583087.1_5'UTR|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000418370.2_5'UTR|MYLK_ENST00000354792.5_Missense_Mutation_p.S560Y|MYLK_ENST00000360304.3_Missense_Mutation_p.S1760Y|MYLK_ENST00000359169.1_Missense_Mutation_p.S1709Y|MYLK_ENST00000346322.5_Missense_Mutation_p.S1691Y			Q15746	MYLK_HUMAN	myosin light chain kinase	1760	Calmodulin-binding.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.S1760Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATTGCCATAGAGGACAGTCT	0.522																																						uc003ego.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(5278-5280)TCT>TAT		myosin light chain kinase isoform 1							219.0	215.0	216.0					3																	123339143		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123339143G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5279C>A	3.37:g.123339143G>T	ENSP00000418335:p.Ser1760Tyr					uc003egk.2_Intron|MYLK_uc003egl.2_5'UTR|MYLK_uc003egm.2_5'UTR|MYLK_uc010hrr.2_Missense_Mutation_p.S195Y|MYLK_uc011bjv.1_Missense_Mutation_p.S560Y|MYLK_uc011bjw.1_Missense_Mutation_p.S1760Y|MYLK_uc003egp.2_Missense_Mutation_p.S1691Y|MYLK_uc003egq.2_Missense_Mutation_p.S1709Y|MYLK_uc003egr.2_Missense_Mutation_p.S1640Y|MYLK_uc003egs.2_Missense_Mutation_p.S1584Y	p.S1760Y	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	32	5561	-		Lung NSC(201;0.0496)	1760			Calmodulin-binding.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5279C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166935	0.78339	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.68025	-0.26;-0.3;-0.26;-0.29;-0.05;-0.3	5.37	5.37	0.77165	Protein kinase-like domain (1);	.	.	.	.	T	0.77089	0.4079	L	0.39898	1.24	0.53005	D	0.999961	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.994;0.994;0.994;0.994;0.991	T	0.78226	-0.2286	9	0.72032	D	0.01	.	19.3137	0.94202	0.0:0.0:1.0:0.0	.	1760;1640;1709;1691;1760	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	Y	1709;1760;1709;1691;560;1760	ENSP00000354004:S1709Y;ENSP00000353452:S1760Y;ENSP00000352088:S1709Y;ENSP00000320622:S1691Y;ENSP00000346846:S560Y;ENSP00000418335:S1760Y	ENSP00000320622:S1691Y	S	-	2	0	MYLK	124821833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.882000	0.92420	2.788000	0.95919	0.650000	0.86243	TCT		PASS	0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		8	219	8	219	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124380707	124380707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:124380707G>T	ENST00000291478.5	+	12	1346	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.E363*|KALRN_ENST00000459915.1_Nonsense_Mutation_p.E184*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2092*|KALRN_ENST00000393496.1_Nonsense_Mutation_p.E433*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2091					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E395*(1)|p.E2092*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAAGCAGTGGAGTTAATGTG	0.483																																						uc003ehg.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(6274-6276)GAG>TAG		kalirin, RhoGEF kinase isoform 1							205.0	165.0	178.0					3																	124380707		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124380707G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1183G>T	3.37:g.124380707G>T	ENSP00000291478:p.Glu395*					KALRN_uc003ehi.2_Nonsense_Mutation_p.E433*|KALRN_uc003ehk.2_Nonsense_Mutation_p.E395*|KALRN_uc011bjz.1_Nonsense_Mutation_p.E184*	p.E2092*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			45	6401	+			2091			DH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.6274G>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.964978|7.964978	0.98585|0.98585	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915|ENST00000354186	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.062092|.	0.64402|.	D|.	0.000005|.	.|T	.|0.75332	.|0.3835	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73232	.|-0.4048	.|3	0.72032|.	D|.	0.01|.	.|.	19.12|19.12	0.93358|0.93358	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	2092;433;395;363;184|2060	.|.	ENSP00000291478:E395X|.	E|W	+|+	1|3	0|0	KALRN|KALRN	125863397|125863397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.657000|9.657000	0.98554|0.98554	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|TGG		PASS	0.483	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		13	104	13	104	---	---	---	---
SEC61A1	29927	broad.mit.edu	37	3	127786843	127786843	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:127786843G>T	ENST00000243253.3	+	11	1369	c.1185G>T	c.(1183-1185)aaG>aaT	p.K395N	SEC61A1_ENST00000464451.1_Missense_Mutation_p.K401N|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Missense_Mutation_p.K275N|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	395					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.K395N(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AGCAGCTGAAGGAGCAGCAGA	0.567											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ekb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1183-1185)AAG>AAT		Sec61 alpha 1 subunit							94.0	90.0	91.0					3																	127786843		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127786843G>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1185G>T	3.37:g.127786843G>T	ENSP00000243253:p.Lys395Asn		OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1559	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Missense_Mutation_p.K342N|SEC61A1_uc003ekd.2_Missense_Mutation_p.K275N|SEC61A1_uc003ekg.2_Missense_Mutation_p.K89N	p.K395N	NM_013336	NP_037468	P61619	S61A1_HUMAN			11	1369	+			395			Cytoplasmic (Potential).		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.1185G>T	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074495	0.55646	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.45	3.66	0.41972	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	M	0.93550	3.43	0.80722	D	1	P	0.34546	0.456	P	0.49665	0.618	T	0.79514	-0.1772	9	0.66056	D	0.02	.	6.8228	0.23866	0.387:0.0:0.613:0.0	.	395	P61619	S61A1_HUMAN	N	401;395;275	.	ENSP00000243253:K395N	K	+	3	2	SEC61A1	129269533	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	4.012000	0.57131	0.674000	0.31244	-0.150000	0.13652	AAG		PASS	0.567	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		8	80	8	80	---	---	---	---
ISY1	57461	broad.mit.edu	37	3	128848948	128848948	+	Missense_Mutation	SNP	T	T	G	rs572233178		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:128848948T>G	ENST00000393295.3	-	11	1151	c.834A>C	c.(832-834)gaA>gaC	p.E278D	ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.E300D|ISY1_ENST00000393292.3_3'UTR|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E278D	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	278					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.E278D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						GCCTTCTGGCTTCTTCACTTT	0.552																																						uc003elo.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(832-834)GAA>GAC		ISY1 splicing factor homolog							98.0	102.0	100.0					3																	128848948		1882	4114	5996	SO:0001583	missense	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128848948T>G		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.834A>C	3.37:g.128848948T>G	ENSP00000376973:p.Glu278Asp					ISY1_uc010hsz.1_Missense_Mutation_p.E98D|ISY1_uc003elp.1_Missense_Mutation_p.E278D|ISY1_uc010hta.1_Missense_Mutation_p.E300D	p.E278D	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			11	1045	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.834A>C	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859150	0.51376	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541	T	0.37235	1.21	5.59	2.05	0.26809	.	0.221494	0.42964	D	0.000636	T	0.26919	0.0659	L	0.43152	1.355	0.80722	D	1	B;B;B	0.25272	0.033;0.004;0.122	B;B;B	0.24848	0.056;0.004;0.056	T	0.06534	-1.0821	10	0.49607	T	0.09	.	6.3883	0.21574	0.0:0.4362:0.0:0.5638	.	300;278;278	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	D	278;278;300	ENSP00000273541:E300D	ENSP00000273541:E300D	E	-	3	2	ISY1	130331638	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	0.014000	0.13333	0.487000	0.27698	0.397000	0.26171	GAA		PASS	0.552	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		29	48	29	48	---	---	---	---
MRPL3	11222	broad.mit.edu	37	3	131181652	131181652	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:131181652G>T	ENST00000264995.3	-	10	1109	c.962C>A	c.(961-963)cCt>cAt	p.P321H	MRPL3_ENST00000425847.2_Missense_Mutation_p.P348H	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	321					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P321H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATCTCCATCAGGAAAATATGT	0.413																																						uc003eoh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(961-963)CCT>CAT		mitochondrial ribosomal protein L3							114.0	116.0	115.0					3																	131181652		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131181652G>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.962C>A	3.37:g.131181652G>T	ENSP00000264995:p.Pro321His					MRPL3_uc011blo.1_Missense_Mutation_p.P216H|MRPL3_uc011blp.1_Missense_Mutation_p.P348H	p.P321H	NM_007208	NP_009139	P09001	RM03_HUMAN			10	1126	-			321					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.962C>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451786	0.84209	.	.	ENSG00000114686	ENST00000264995;ENST00000425847	T;T	0.42900	0.96;0.96	5.53	5.53	0.82687	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.103313	0.64402	D	0.000003	T	0.62109	0.2401	M	0.64567	1.98	0.44711	D	0.997709	D;D	0.89917	1.0;0.998	D;P	0.66196	0.942;0.87	T	0.62946	-0.6746	10	0.59425	D	0.04	-16.2273	18.2211	0.89902	0.0:0.0:1.0:0.0	.	348;321	E7ETU7;P09001	.;RM03_HUMAN	H	321;348	ENSP00000264995:P321H;ENSP00000398536:P348H	ENSP00000264995:P321H	P	-	2	0	MRPL3	132664342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.689000	0.84165	2.592000	0.87571	0.585000	0.79938	CCT		PASS	0.413	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		5	35	5	35	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137484005	137484005	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:137484005G>A	ENST00000306087.1	+	1	427	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	127					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A127T(1)		large_intestine(2)|lung(12)	14						GAAAGCCCGGGCCTTCTTGCC	0.716																																						uc003erm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)GCC>ACC		SRY-box 14							20.0	26.0	24.0					3																	137484005		2197	4287	6484	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484005G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.379G>A	3.37:g.137484005G>A	ENSP00000305343:p.Ala127Thr						p.A127T	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	427	+			127					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.379G>A	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255853	0.39896	.	.	ENSG00000168875	ENST00000306087	D	0.96265	-3.96	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.90456	0.7011	N	0.19112	0.55	0.58432	D	0.999999	B	0.29481	0.245	B	0.20955	0.032	D	0.88155	0.2853	10	0.05525	T	0.97	.	17.8201	0.88648	0.0:0.0:1.0:0.0	.	127	O95416	SOX14_HUMAN	T	127	ENSP00000305343:A127T	ENSP00000305343:A127T	A	+	1	0	SOX14	138966695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.529000	0.98049	2.449000	0.82847	0.511000	0.50034	GCC		PASS	0.716	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		5	13	5	13	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169835124	169835124	+	Missense_Mutation	SNP	T	T	A	rs138410529	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:169835124T>A	ENST00000494943.1	-	10	2115	c.2047A>T	c.(2047-2049)Agt>Tgt	p.S683C	PHC3_ENST00000495893.2_Missense_Mutation_p.S695C|PHC3_ENST00000467570.1_Missense_Mutation_p.S642C			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	683					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S664C(1)|p.S695C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GGAATGCTACTGTGCATAGAT	0.433																																						uc010hws.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2047-2049)AGT>TGT		polyhomeotic like 3							185.0	176.0	179.0					3																	169835124		1955	4147	6102	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169835124T>A		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2047A>T	3.37:g.169835124T>A	ENSP00000420271:p.Ser683Cys					PHC3_uc003fgl.2_Missense_Mutation_p.S695C|PHC3_uc011bpq.1_Missense_Mutation_p.S642C	p.S683C	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		10	2111	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		683					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.2047A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.40|11.40	1.627979|1.627979	0.28978|0.28978	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000486042|ENST00000494943;ENST00000495893;ENST00000467570	.|T;T;T	.|0.56103	.|0.48;0.48;0.48	5.45|5.45	-0.897|-0.897	0.10553|0.10553	.|.	.|0.473270	.|0.22763	.|N	.|0.055928	T|T	0.42765|0.42765	0.1217|0.1217	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999999|0.999999	.|P;D;D	.|0.61697	.|0.932;0.983;0.99	.|P;P;P	.|0.53313	.|0.518;0.533;0.723	T|T	0.39623|0.39623	-0.9605|-0.9605	5|10	.|0.56958	.|D	.|0.05	0.3261|0.3261	6.6882|6.6882	0.23156|0.23156	0.0:0.312:0.1178:0.5702|0.0:0.312:0.1178:0.5702	.|.	.|642;683;695	.|E7EX82;Q8NDX5;Q8NDX5-7	.|.;PHC3_HUMAN;.	L|C	156|683;695;642	.|ENSP00000420271:S683C;ENSP00000420294:S695C;ENSP00000419089:S642C	.|ENSP00000419089:S642C	Q|S	-|-	2|1	0|0	PHC3|PHC3	171317818|171317818	0.996000|0.996000	0.38824|0.38824	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.878000|0.878000	0.28126|0.28126	-0.384000|-0.384000	0.07845|0.07845	-0.462000|-0.462000	0.05337|0.05337	CAG|AGT		PASS	0.433	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		23	43	23	43	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179051978	179051978	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr3:179051978G>T	ENST00000326361.3	+	7	1671	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	ZNF639_ENST00000496856.1_Missense_Mutation_p.G409V|ZNF639_ENST00000484866.1_Missense_Mutation_p.G409V	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	409	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G409V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GATGACTGTGGGAAAGGCTTT	0.328																																						uc003fjq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)GGG>GTG		zinc finger protein 639							96.0	100.0	99.0					3																	179051978		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051978G>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1226G>T	3.37:g.179051978G>T	ENSP00000325634:p.Gly409Val					ZNF639_uc003fjr.1_Missense_Mutation_p.G409V	p.G409V	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1569	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		409			Interaction with CTNNA2.|C2H2-type 6.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1226G>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192104	0.58017	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.67345	-0.26;-0.26;-0.26	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84625	0.0686	10	0.87932	D	0	.	20.3681	0.98887	0.0:0.0:1.0:0.0	.	409	Q9UID6	ZN639_HUMAN	V	409	ENSP00000417740:G409V;ENSP00000325634:G409V;ENSP00000418766:G409V	ENSP00000325634:G409V	G	+	2	0	ZNF639	180534672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.309000	0.65774	2.890000	0.99128	0.655000	0.94253	GGG		PASS	0.328	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		6	62	6	62	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42145654	42145654	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:42145654A>C	ENST00000502486.1	-	3	1424	c.845T>G	c.(844-846)cTg>cGg	p.L282R	BEND4_ENST00000504360.1_Missense_Mutation_p.L278R	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	282								p.L278R(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGAGGTTGACAGAGGATCCAC	0.532																																						uc003gwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(844-846)CTG>CGG		BEN domain containing 4 isoform a							65.0	65.0	65.0					4																	42145654		1967	4157	6124	SO:0001583	missense	389206							g.chr4:42145654A>C	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.845T>G	4.37:g.42145654A>C	ENSP00000421169:p.Leu282Arg					BEND4_uc003gwm.2_Missense_Mutation_p.L282R|BEND4_uc011byy.1_Missense_Mutation_p.L282R	p.L282R	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1425	-			282					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.845T>G	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155945	0.57259	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.4	5.4	0.78164	.	0.228452	0.38164	N	0.001781	T	0.51805	0.1696	N	0.14661	0.345	0.45464	D	0.998438	D;P;D	0.59767	0.986;0.93;0.986	P;B;P	0.57152	0.814;0.36;0.563	T	0.59958	-0.7356	9	0.72032	D	0.01	-9.9447	15.4254	0.75045	1.0:0.0:0.0:0.0	.	204;282;282	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	R	153;282;278	.	ENSP00000412495:L153R	L	-	2	0	BEND4	41840411	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.390000	0.66261	2.056000	0.61249	0.460000	0.39030	CTG		PASS	0.532	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		10	24	10	24	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55131190	55131190	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:55131190C>A	ENST00000257290.5	+	5	1064	c.733C>A	c.(733-735)Ctt>Att	p.L245I	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	245	Ig-like C2-type 3.				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.L245I(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)	GGTGGTTGACCTTCAATGGAC	0.478			"""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 - Missense(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.(733-735)CTT>ATT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						145.0	137.0	139.0					4																	55131190		2203	4300	6503	SO:0001583	missense	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.chr4:55131190C>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.733C>A	4.37:g.55131190C>A	ENSP00000257290:p.Leu245Ile	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.L139I|PDGFRA_uc003ham.2_RNA	p.L245I	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)		5	1064	+	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)		245			Ig-like C2-type 3.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.733C>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071710	0.36566	.	.	ENSG00000134853	ENST00000257290	T	0.61627	0.09	5.35	-0.369	0.12534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.319922	0.17260	U	0.180818	T	0.45316	0.1336	L	0.51422	1.61	0.80722	D	1	B;B	0.26635	0.12;0.155	B;B	0.28916	0.096;0.09	T	0.23655	-1.0182	10	0.10111	T	0.7	.	10.2624	0.43434	0.0:0.2862:0.0:0.7138	.	245;245	P16234-3;P16234	.;PGFRA_HUMAN	I	245	ENSP00000257290:L245I	ENSP00000257290:L245I	L	+	1	0	PDGFRA	54825947	0.989000	0.36119	0.984000	0.44739	0.634000	0.38068	0.488000	0.22371	-0.190000	0.10465	0.561000	0.74099	CTT		PASS	0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		5	48	5	48	---	---	---	---
SMR3A	26952	broad.mit.edu	37	4	71232555	71232555	+	Silent	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:71232555C>G	ENST00000226460.4	+	3	345	c.249C>G	c.(247-249)ccC>ccG	p.P83P		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	83	Poly-Pro.|Pro-rich.					extracellular region (GO:0005576)		p.P83P(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCTCCACCCTATGGTCCAG	0.567																																						uc003hfg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(247-249)CCC>CCG		submaxillary gland androgen regulated protein 3							173.0	154.0	160.0					4																	71232555		2203	4300	6503	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71232555C>G	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.249C>G	4.37:g.71232555C>G						SMR3B_uc011cas.1_Intron	p.P83P	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	330	+		all_hematologic(202;0.196)	83			Pro-rich.|Poly-Pro.			Silent	SNP	ENST00000226460.4	37	c.249C>G	CCDS34000.1																																																																																				PASS	0.567	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		8	38	8	38	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85525418	85525418	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:85525418A>G	ENST00000295887.5	+	2	563	c.140A>G	c.(139-141)tAt>tGt	p.Y47C		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.Y47C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GATGACAGATATGGAGATTTG	0.348																																						uc011ccv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|breast(1)	4						c.(139-141)TAT>TGT		CDP-diacylglycerol synthase 1							85.0	87.0	86.0					4																	85525418		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85525418A>G	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.140A>G	4.37:g.85525418A>G	ENSP00000295887:p.Tyr47Cys						p.Y47C	NM_001263	NP_001254	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	2	638	+		Hepatocellular(203;0.114)	47					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.140A>G	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.173016	0.38413	.	.	ENSG00000163624	ENST00000295887	T	0.42513	0.97	5.68	4.43	0.53597	.	0.362175	0.28414	N	0.015422	T	0.26122	0.0637	N	0.08118	0	0.33127	D	0.542599	P	0.43412	0.806	B	0.43701	0.428	T	0.37641	-0.9697	10	0.52906	T	0.07	-16.7674	9.7084	0.40229	0.7702:0.0:0.0:0.2298	.	47	Q92903	CDS1_HUMAN	C	47	ENSP00000295887:Y47C	ENSP00000295887:Y47C	Y	+	2	0	CDS1	85744442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.343000	0.33930	2.175000	0.68902	0.533000	0.62120	TAT		PASS	0.348	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			15	31	15	31	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761394	96761394	+	Missense_Mutation	SNP	C	C	A	rs143281239		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:96761394C>A	ENST00000295266.4	+	1	156	c.93C>A	c.(91-93)gaC>gaA	p.D31E		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	31					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.D31E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCTCAAATGACGCTACATTTG	0.502																																						uc003htr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(91-93)GAC>GAA		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						58.0	58.0	58.0					4																	96761394		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761394C>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.93C>A	4.37:g.96761394C>A	ENSP00000295266:p.Asp31Glu						p.D31E	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	156	+		Hepatocellular(203;0.114)	31					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.93C>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052046	0.19827	.	.	ENSG00000163114	ENST00000295266	D	0.97066	-4.23	4.74	-9.34	0.00636	.	0.176733	0.48767	D	0.000164	D	0.83170	0.5196	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.82908	-0.0224	10	0.02654	T	1	-4.0309	3.102	0.06329	0.1124:0.398:0.263:0.2266	.	31	P29803	ODPAT_HUMAN	E	31	ENSP00000295266:D31E	ENSP00000295266:D31E	D	+	3	2	PDHA2	96980417	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	-1.915000	0.01578	-1.771000	0.01293	-0.444000	0.05651	GAC		PASS	0.502	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			5	15	5	15	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126242434	126242434	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:126242434G>T	ENST00000394329.3	+	1	4881	c.4868G>T	c.(4867-4869)gGc>gTc	p.G1623V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1623	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1623V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTCTTCAGGGCCTTGATGGA	0.433																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4867-4869)GGC>GTC		FAT tumor suppressor homolog 4 precursor							101.0	103.0	103.0					4																	126242434		1917	4121	6038	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242434G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4868G>T	4.37:g.126242434G>T	ENSP00000377862:p.Gly1623Val						p.G1623V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4868	+			1623			Cadherin 15.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4868G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230233	0.79688	.	.	ENSG00000196159	ENST00000394329	T	0.61859	0.07	4.64	4.64	0.57946	Cadherin (2);Cadherin-like (1);	0.000000	0.35067	U	0.003472	T	0.71082	0.3298	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74633	-0.3600	10	0.87932	D	0	.	17.7207	0.88350	0.0:0.0:1.0:0.0	.	1623	Q6V0I7	FAT4_HUMAN	V	1623	ENSP00000377862:G1623V	ENSP00000377862:G1623V	G	+	2	0	FAT4	126461884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.392000	0.97252	2.415000	0.81967	0.650000	0.86243	GGC		PASS	0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	37	16	37	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128564999	128564999	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:128564999G>T	ENST00000335251.6	+	2	573	c.470G>T	c.(469-471)cGa>cTa	p.R157L	INTU_ENST00000296461.5_Missense_Mutation_p.R157L	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	157					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)		p.R157L(1)		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						GTCCAACAGCGATACAAAGAT	0.393																																						uc003ifk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)CGG>CTG		PDZ domain containing 6							95.0	94.0	94.0					4																	128564999		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128564999G>T	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.470G>T	4.37:g.128564999G>T	ENSP00000334003:p.Arg157Leu					INTU_uc011cgq.1_RNA	p.R157L	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			2	540	+			157					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.470G>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929273	0.18131	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.46063	0.88	5.1	1.44	0.22558	.	0.357608	0.29417	N	0.012203	T	0.32041	0.0816	L	0.51422	1.61	0.36932	D	0.891933	B	0.11235	0.004	B	0.12156	0.007	T	0.14587	-1.0467	10	0.54805	T	0.06	-1.8835	5.0901	0.14704	0.417:0.0:0.4477:0.1353	.	157	Q9ULD6	PDZD6_HUMAN	L	138;157;157	ENSP00000296461:R157L	ENSP00000296461:R157L	R	+	2	0	INTU	128784449	0.486000	0.25980	0.206000	0.23566	0.445000	0.32107	0.062000	0.14389	0.053000	0.16036	-0.136000	0.14681	CGA		PASS	0.393	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		4	45	4	45	---	---	---	---
TRIM75P	391714	broad.mit.edu	37	4	165981199	165981199	+	IGR	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:165981199T>A								TRIM60 (18303 upstream) : RP11-219C20.3 (10560 downstream)																							TTCTAGACCCTGAAACAGCAC	0.343																																						uc011cjl.1																			0											c.(898-900)CCT>CCA		tripartite motif-containing 75							37.0	37.0	37.0					4																	165981199		1793	4062	5855	SO:0001628	intergenic_variant	0							g.chr4:165981199T>A																													4.37:g.165981199T>A							p.P300P	NM_001105575	NP_001099045					1	900	+									Silent	SNP		37	c.900T>A																																																																																				0	PASS	0.343									12	33	12	33	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924324	188924324	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:188924324A>T	ENST00000326866.4	+	4	771	c.363A>T	c.(361-363)gaA>gaT	p.E121D	ZFP42_ENST00000509524.1_Missense_Mutation_p.E121D	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	121					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E121D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GTTCTTTGGAATACATGAAAA	0.408																																						uc003izg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(361-363)GAA>GAT		zinc finger protein 42							84.0	92.0	89.0					4																	188924324		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924324A>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.363A>T	4.37:g.188924324A>T	ENSP00000317686:p.Glu121Asp					ZFP42_uc003izh.1_Missense_Mutation_p.E121D|ZFP42_uc003izi.1_Missense_Mutation_p.E121D	p.E121D	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	608	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	121					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.363A>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748953	0.30955	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.65364	-0.15;-0.15	4.49	-0.605	0.11623	.	0.253623	0.37178	N	0.002212	T	0.46171	0.1379	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.37957	-0.9683	10	0.66056	D	0.02	.	4.342	0.11115	0.4298:0.0:0.4048:0.1653	.	121	Q96MM3	ZFP42_HUMAN	D	121	ENSP00000317686:E121D;ENSP00000424662:E121D	ENSP00000317686:E121D	E	+	3	2	ZFP42	189161318	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.051000	0.14141	-0.077000	0.12752	-0.242000	0.12053	GAA		PASS	0.408	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		26	74	26	74	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9202246	9202246	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:9202246G>T	ENST00000382496.5	-	9	1418	c.753C>A	c.(751-753)gcC>gcA	p.A251A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	251	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.A251A(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCACACCCGGGCAGCTCTGG	0.502																																						uc003jek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(751-753)GCC>GCA		semaphorin 5A precursor							104.0	95.0	98.0					5																	9202246		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202246G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.753C>A	5.37:g.9202246G>T							p.A251A	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			9	1465	-			251			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.753C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161195	0.21538	.	.	ENSG00000112902	ENST00000514923	.	.	.	5.51	-0.867	0.10655	.	.	.	.	.	T	0.53045	0.1772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41627	-0.9498	4	.	.	.	.	7.4709	0.27349	0.2175:0.4816:0.3009:0.0	.	.	.	.	T	199	.	.	P	-	1	0	SEMA5A	9255246	0.943000	0.32029	0.925000	0.36789	0.998000	0.95712	-0.006000	0.12833	-0.508000	0.06540	0.655000	0.94253	CCG		PASS	0.502	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			5	31	5	31	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13719032	13719033	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:13719032_13719033GG>TT	ENST00000265104.4	-	72	12561_12562	c.12457_12458CC>AA	c.(12457-12459)CCt>AAt	p.P4153N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4153	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P4153H(1)|p.P4153T(1)|p.P4153N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTTGTGGAGGATCGTTGGCA	0.45									Kartagener syndrome																													uc003jfd.2																			3	Substitution - Missense(3)		lung(3)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12457-12459)CCT>CAT|c.(12457-12459)CCT>ACT		dynein, axonemal, heavy chain 5																																				SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13719032G>T|g.chr5:13719033G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12457_12458delinsTT	5.37:g.13719032_13719033delinsTT	ENSP00000265104:p.Pro4153Asn					DNAH5_uc003jfc.2_Missense_Mutation_p.P321H|DNAH5_uc003jfc.2_Missense_Mutation_p.P321T	p.P4153H|p.P4153T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			72	12500|12499	-	Lung NSC(4;0.00476)		4153			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12458C>A|c.12457C>A	CCDS3882.1																																																																																				PASS	0.450	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11|10	39|40	10	39	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23523402	23523402	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:23523402C>A	ENST00000296682.3	+	9	1067	c.885C>A	c.(883-885)atC>atA	p.I295I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	295	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			I -> VRRACHF (in Ref. 4; AAF87242). {ECO:0000305}.	meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.I295I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAACTCAGATCACCAAGGGGA	0.443										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(883-885)ATC>ATA		PR domain containing 9							117.0	115.0	116.0					5																	23523402		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23523402C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.885C>A	5.37:g.23523402C>A		HNSCC(3;0.000094)					p.I295I	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			9	1067	+			295	I -> VRRACHF (in Ref. 4; AAF87242).		SET.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.885C>A	CCDS43307.1																																																																																				PASS	0.443	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		14	47	14	47	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36105250	36105250	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:36105250T>C	ENST00000296603.4	-	17	2409	c.1947A>G	c.(1945-1947)atA>atG	p.I649M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	649						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I649M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGAAGTTCTATCCGGTCCC	0.408																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1945-1947)ATA>ATG		LMBR1 domain containing 2							170.0	162.0	165.0					5																	36105250		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36105250T>C		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1947A>G	5.37:g.36105250T>C	ENSP00000296603:p.Ile649Met					uc003jka.1_5'Flank	p.I649M	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		17	2362	-	all_lung(31;0.000146)		649			Cytoplasmic (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.1947A>G	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668339	0.47677	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.34	2.78	0.32641	.	0.092323	0.64402	D	0.000001	T	0.51432	0.1674	L	0.57536	1.79	0.44627	D	0.997602	P	0.34780	0.468	B	0.39185	0.293	T	0.43829	-0.9367	9	0.30854	T	0.27	-13.9219	7.574	0.27924	0.1264:0.0714:0.0:0.8022	.	649	Q68DH5	LMBD2_HUMAN	M	649;543	.	ENSP00000296603:I649M	I	-	3	3	LMBRD2	36141007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.349000	0.33998	0.965000	0.38133	0.454000	0.30748	ATA		PASS	0.408	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		9	31	9	31	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37024753	37024753	+	Missense_Mutation	SNP	A	A	G	rs376084993		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:37024753A>G	ENST00000282516.8	+	30	6140	c.5641A>G	c.(5641-5643)Aca>Gca	p.T1881A	NIPBL_ENST00000448238.2_Missense_Mutation_p.T1881A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1881					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.T1881A(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAACAACCAACATTTCCAAA	0.313																																						uc003jkl.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(5641-5643)ACA>GCA		delangin isoform A		A	ALA/THR,ALA/THR	0,4406		0,0,2203	74.0	76.0	75.0		5641,5641	4.4	1.0	5		75	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	NIPBL	NM_015384.4,NM_133433.3	58,58	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	1881/2698,1881/2805	37024753	1,12999	2203	4297	6500	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37024753A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5641A>G	5.37:g.37024753A>G	ENSP00000282516:p.Thr1881Ala					NIPBL_uc003jkk.3_Missense_Mutation_p.T1881A	p.T1881A	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		30	6140	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1881			HEAT 2.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.5641A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669879	0.29693	0.0	1.16E-4	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.82711	-1.64;-1.64	5.62	4.43	0.53597	Armadillo-like helical (1);Armadillo-type fold (1);	0.171971	0.49305	D	0.000142	T	0.71056	0.3295	N	0.16903	0.455	0.44611	D	0.997587	B;B	0.20052	0.004;0.041	B;B	0.19391	0.011;0.025	T	0.64037	-0.6501	10	0.36615	T	0.2	.	12.6633	0.56826	0.8619:0.1381:0.0:0.0	.	1881;1881	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	1881	ENSP00000282516:T1881A;ENSP00000406266:T1881A	ENSP00000282516:T1881A	T	+	1	0	NIPBL	37060510	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.118000	0.77137	0.924000	0.37069	0.477000	0.44152	ACA		PASS	0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	19	11	19	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42695076	42695076	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:42695076G>T	ENST00000230882.4	+	5	514	c.324G>T	c.(322-324)ggG>ggT	p.G108G	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Silent_p.G86G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	108					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.G108G(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTCTGCTGGGGAAAACAGCT	0.358																																						uc003jmt.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|kidney(1)|skin(1)	6						c.(322-324)GGG>GGT		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						139.0	131.0	134.0					5																	42695076		2201	4300	6501	SO:0001819	synonymous_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42695076G>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.324G>T	5.37:g.42695076G>T						GHR_uc011cpq.1_5'UTR	p.G108G	NM_000163	NP_000154	P10912	GHR_HUMAN			5	367	+		Myeloproliferative disorder(839;0.00878)	108			Extracellular (Potential).		Q9HCX2	Silent	SNP	ENST00000230882.4	37	c.324G>T	CCDS3940.1																																																																																				PASS	0.358	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		4	14	4	14	---	---	---	---
GZMA	3001	broad.mit.edu	37	5	54401310	54401310	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:54401310G>A	ENST00000274306.6	+	2	114	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	27					apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.E27K(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGATGTCTGTGAAAAAATTAT	0.413																																						uc003jpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(79-81)GAA>AAA		granzyme A precursor							89.0	86.0	87.0					5																	54401310		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54401310G>A		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.79G>A	5.37:g.54401310G>A	ENSP00000274306:p.Glu27Lys						p.E27K	NM_006144	NP_006135	P12544	GRAA_HUMAN			2	116	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	27					A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.79G>A	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	2.547	-0.304890	0.05495	.	.	ENSG00000145649	ENST00000274306	D	0.88818	-2.43	5.07	3.25	0.37280	Peptidase cysteine/serine, trypsin-like (1);	0.782790	0.12340	N	0.477590	T	0.82093	0.4962	L	0.32530	0.975	0.24380	N	0.994799	B	0.15719	0.014	B	0.10450	0.005	T	0.70185	-0.4941	10	0.34782	T	0.22	.	9.1079	0.36710	0.2312:0.0:0.7688:0.0	.	27	P12544	GRAA_HUMAN	K	27	ENSP00000274306:E27K	ENSP00000274306:E27K	E	+	1	0	GZMA	54437067	0.990000	0.36364	0.840000	0.33206	0.330000	0.28571	2.016000	0.40971	1.353000	0.45828	0.655000	0.94253	GAA		PASS	0.413	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		9	32	9	32	---	---	---	---
DDX4	54514	broad.mit.edu	37	5	55075836	55075836	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:55075836A>G	ENST00000505374.1	+	8	531	c.439A>G	c.(439-441)Aga>Gga	p.R147G	DDX4_ENST00000514278.2_Missense_Mutation_p.R127G|RNA5SP183_ENST00000362452.1_RNA|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	147	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.R147G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCCATACAGAAGAGGTGGAAG	0.398																																						uc003jqg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(439-441)AGA>GGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							150.0	139.0	143.0					5																	55075836		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55075836A>G	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.439A>G	5.37:g.55075836A>G	ENSP00000424838:p.Arg147Gly					DDX4_uc010ivz.2_Missense_Mutation_p.R127G|DDX4_uc003jqh.3_Intron|DDX4_uc003jqj.2_Intron	p.R147G	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			8	513	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	147			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.439A>G	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509744	0.64522	.	.	ENSG00000152670	ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000514679;ENST00000511491	T;T;T;T;T;T	0.60548	1.91;1.93;3.43;0.32;0.27;0.18	5.37	4.18	0.49190	.	0.258711	0.38058	N	0.001829	T	0.69342	0.3100	M	0.70595	2.14	0.39263	D	0.964242	D;D	0.63880	0.991;0.993	P;D	0.72338	0.73;0.977	T	0.67971	-0.5532	10	0.15952	T	0.53	-10.5166	10.2076	0.43122	0.833:0.167:0.0:0.0	.	127;147	D6RDK4;Q9NQI0	.;DDX4_HUMAN	G	127;147;127;121;147;147	ENSP00000425359:R127G;ENSP00000424838:R147G;ENSP00000427167:R127G;ENSP00000424779:R121G;ENSP00000424112:R147G;ENSP00000427522:R147G	ENSP00000424838:R147G	R	+	1	2	DDX4	55111593	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	2.284000	0.43478	1.010000	0.39314	0.528000	0.53228	AGA		PASS	0.398	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		4	18	4	18	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70806897	70806897	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:70806897C>A	ENST00000358731.4	+	17	4241	c.3978C>A	c.(3976-3978)acC>acA	p.T1326T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1326	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T1326T(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGAGGAGACCAGTACCTCAA	0.423																																						uc003kbp.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(3976-3978)ACC>ACA		transcription factor-like nuclear regulator							115.0	110.0	112.0					5																	70806897		1910	4123	6033	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806897C>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3978C>A	5.37:g.70806897C>A						BDP1_uc003kbn.1_Silent_p.T1326T|BDP1_uc003kbo.2_Silent_p.T1326T	p.T1326T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	4241	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1326			9; approximate.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.3978C>A	CCDS43328.1																																																																																				PASS	0.423	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		6	57	6	57	---	---	---	---
PDE8B	8622	broad.mit.edu	37	5	76646894	76646894	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:76646894G>T	ENST00000264917.5	+	9	1067	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	PDE8B_ENST00000340978.3_Missense_Mutation_p.W294L|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.W341L|PDE8B_ENST00000342343.4_Missense_Mutation_p.W321L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	341					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.W341L(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ATGTAGGAGTGGCAGGGGGTT	0.517																																						uc003kfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)TGG>TTG		phosphodiesterase 8B isoform 1							93.0	90.0	91.0					5																	76646894		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76646894G>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1022G>T	5.37:g.76646894G>T	ENSP00000264917:p.Trp341Leu					PDE8B_uc003kfb.2_Missense_Mutation_p.W321L|PDE8B_uc003kfc.2_Missense_Mutation_p.W341L|PDE8B_uc003kfd.2_Missense_Mutation_p.W294L|PDE8B_uc003kfe.2_Intron	p.W341L	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	9	1067	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	341					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1022G>T	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339493	0.95783	.	.	ENSG00000113231	ENST00000340978;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	T;D;D;D;D	0.99552	-1.02;-6.15;-6.15;-6.15;-6.15	5.39	5.39	0.77823	PAS (1);PAS fold (1);	0.061405	0.64402	D	0.000001	D	0.99760	0.9903	H	0.96080	3.765	0.80722	D	1	D;D;D;D	0.63046	0.99;0.973;0.99;0.992	D;P;D;D	0.69142	0.962;0.885;0.925;0.955	D	0.97211	0.9871	10	0.72032	D	0.01	.	17.9374	0.89017	0.0:0.0:1.0:0.0	.	294;341;321;341	O95263-6;O95263-3;O95263-4;O95263	.;.;.;PDE8B_HUMAN	L	294;341;321;341;103	ENSP00000345446:W294L;ENSP00000264917:W341L;ENSP00000345646:W321L;ENSP00000331336:W341L;ENSP00000422861:W103L	ENSP00000264917:W341L	W	+	2	0	PDE8B	76682650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.501000	0.97979	2.528000	0.85240	0.563000	0.77884	TGG		PASS	0.517	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		9	20	9	20	---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134153324	134153324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:134153324G>T	ENST00000354283.4	+	20	2884	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	DDX46_ENST00000452510.2_Nonsense_Mutation_p.E918*			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	917					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E917*(2)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGAAACAAGAAGAAGAGAG	0.408																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2																			2	Substitution - Nonsense(2)		lung(1)|kidney(1)	ovary(1)	1						c.(2749-2751)GAA>TAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							122.0	116.0	118.0					5																	134153324		2203	4300	6503	SO:0001587	stop_gained	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134153324G>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2749G>T	5.37:g.134153324G>T	ENSP00000346236:p.Glu917*						p.E917*	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		20	2917	+			917					O94894|Q96EI0|Q9Y658	Nonsense_Mutation	SNP	ENST00000354283.4	37	c.2749G>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	41	8.627365	0.98890	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	5.8	5.8	0.92144	.	0.046318	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-25.8214	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	X	918;917	.	ENSP00000346236:E917X	E	+	1	0	DDX46	134181223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.809000	0.86057	2.744000	0.94065	0.655000	0.94253	GAA		PASS	0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		7	51	7	51	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140579904	140579904	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:140579904C>A	ENST00000354757.3	+	1	557	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P186Q(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGTCATTCCAGACAATAGG	0.438																																						uc003liy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(556-558)CCA>CAA		protocadherin beta 11 precursor							60.0	65.0	64.0					5																	140579904		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579904C>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.557C>A	5.37:g.140579904C>A	ENSP00000346802:p.Pro186Gln					PCDHB11_uc011daj.1_Intron	p.P186Q	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	557	+			186			Extracellular (Potential).|Cadherin 2.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.557C>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477415	0.44044	.	.	ENSG00000197479	ENST00000354757	T	0.53640	0.61	2.3	0.00444	0.14058	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49643	0.1569	L	0.39633	1.23	0.09310	N	0.999998	B	0.31054	0.306	P	0.48901	0.594	T	0.56062	-0.8041	9	0.46703	T	0.11	.	7.7001	0.28617	0.1802:0.6437:0.1761:0.0	.	186	Q9Y5F2	PCDBB_HUMAN	Q	186	ENSP00000346802:P186Q	ENSP00000346802:P186Q	P	+	2	0	PCDHB11	140560088	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-3.129000	0.00591	0.266000	0.21894	0.467000	0.42956	CCA		PASS	0.438	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		5	51	5	51	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141337102	141337102	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:141337102C>A	ENST00000231484.3	-	1	1525	c.315G>T	c.(313-315)ctG>ctT	p.L105L	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	105	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L105L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGGAAACCAGGCAGGGAT	0.587																																						uc003llx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(313-315)CTG>CTT		protocadherin 12 precursor							81.0	86.0	84.0					5																	141337102		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141337102C>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.315G>T	5.37:g.141337102C>A							p.L105L	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1526	-		all_hematologic(541;0.0999)	105			Cadherin 1.|Extracellular (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.315G>T	CCDS4269.1																																																																																				PASS	0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		6	83	6	83	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207268	148207268	+	Missense_Mutation	SNP	G	G	A	rs375254430		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:148207268G>A	ENST00000305988.4	+	1	1113	c.874G>A	c.(874-876)Gtt>Att	p.V292I		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	292	Agonist and antagonist binding.				activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.V292I(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CTTCTTCATCGTTAACATTGT	0.463																																						uc003lpr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)GTT>ATT		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	122.0	116.0	118.0		874	5.3	1.0	5		118	0,8600		0,0,4300	no	missense	ADRB2	NM_000024.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	292/414	148207268	1,13005	2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207268G>A	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.874G>A	5.37:g.148207268G>A	ENSP00000305372:p.Val292Ile					SH3TC2_uc003lpp.1_Intron	p.V292I	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1113	+			292			Helical; Name=6.|Agonist and antagonist binding.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.874G>A	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500216	0.44455	2.27E-4	0.0	ENSG00000169252	ENST00000305988	T	0.72942	-0.7	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.063559	0.64402	D	0.000006	T	0.64316	0.2587	L	0.39898	1.24	0.44024	D	0.996744	P	0.36535	0.557	B	0.32465	0.146	T	0.68522	-0.5386	10	0.66056	D	0.02	.	19.1566	0.93514	0.0:0.0:1.0:0.0	.	292	P07550	ADRB2_HUMAN	I	292	ENSP00000305372:V292I	ENSP00000305372:V292I	V	+	1	0	ADRB2	148187461	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.695000	0.54749	2.763000	0.94921	0.561000	0.74099	GTT		PASS	0.463	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		8	65	8	65	---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179757699	179757700	+	Splice_Site	DNP	CC	CC	AA			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:179757699_179757700CC>AA	ENST00000253778.8	-	6	703_704	c.534_535GG>TT	c.(532-537)ttGGaa>ttTTaa	p.178_179LE>F*		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	178	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.?(2)|p.L178F(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTGTAACTCACCAACTGCTGAA	0.376																																						uc003mlw.1																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(1)|skin(1)	2						c.e6+1|c.(532-534)TTG>TTT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)																																			SO:0001630	splice_region_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179757699C>A|g.chr5:179757700C>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.534_535delinsAA	5.37:g.179757699_179757700delinsAA							p.L178_splice|p.L178F	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	632	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	|178			|Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Splice_Site|Missense_Mutation	SNP	ENST00000253778.8	37	c.534_splice|c.534G>T	CCDS43411.1																																																																																				PASS	0.376	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	Nonsense_Mutation	15	74	15	74	---	---	---	---
KAAG1	353219	broad.mit.edu	37	6	24358065	24358065	+	Silent	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:24358065G>A	ENST00000274766.1	+	1	935	c.198G>A	c.(196-198)gcG>gcA	p.A66A	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	66					immune response (GO:0006955)			p.A66A(1)		central_nervous_system(1)|lung(1)|prostate(1)	3						CCCAGGGCGCGGGATCGCCTC	0.662																																						uc003ndz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(196-198)GCG>GCA		kidney associated antigen 1							24.0	28.0	27.0					6																	24358065		2181	4262	6443	SO:0001819	synonymous_variant	353219				immune response			g.chr6:24358065G>A	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.198G>A	6.37:g.24358065G>A						DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR	p.A66A	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN			1	935	+			66						Silent	SNP	ENST00000274766.1	37	c.198G>A	CCDS4551.1																																																																																				PASS	0.662	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			6	25	6	25	---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25819768	25819768	+	Missense_Mutation	SNP	C	C	A	rs146175657	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:25819768C>A	ENST00000244527.4	-	5	615	c.500G>T	c.(499-501)cGa>cTa	p.R167L	SLC17A1_ENST00000476801.1_Missense_Mutation_p.R167L|SLC17A1_ENST00000427328.1_Missense_Mutation_p.R167L|SLC17A1_ENST00000468082.1_Missense_Mutation_p.R167L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	167					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.R167L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGTCGGCCTCGTTCCAGGGG	0.393																																						uc003nfh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(499-501)CGA>CTA		solute carrier family 17 (sodium phosphate),							79.0	84.0	83.0					6																	25819768		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25819768C>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.500G>T	6.37:g.25819768C>A	ENSP00000244527:p.Arg167Leu					SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.R165L|SLC17A1_uc010jqc.1_Missense_Mutation_p.R165L	p.R167L	NM_005074	NP_005065	Q14916	NPT1_HUMAN			5	616	-			167					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.500G>T	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535101	0.27475	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	4.86	-1.66	0.08265	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.413848	0.17806	N	0.161377	T	0.55130	0.1901	M	0.76574	2.34	0.19575	N	0.999962	P;P	0.47191	0.867;0.891	P;P	0.53266	0.6;0.722	T	0.56044	-0.8044	10	0.87932	D	0	.	4.6124	0.12409	0.146:0.3993:0.0:0.4547	.	167;167	Q14916-2;Q14916	.;NPT1_HUMAN	L	167	ENSP00000244527:R167L;ENSP00000410549:R167L;ENSP00000420614:R167L;ENSP00000420546:R167L	ENSP00000244527:R167L	R	-	2	0	SLC17A1	25927747	0.001000	0.12720	0.011000	0.14972	0.029000	0.11900	0.194000	0.17135	-0.646000	0.05452	-0.781000	0.03364	CGA		PASS	0.393	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			4	50	4	50	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25967109	25967109	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:25967109A>T	ENST00000357085.3	+	3	835	c.359A>T	c.(358-360)cAg>cTg	p.Q120L	TRIM38_ENST00000349458.3_Missense_Mutation_p.Q120L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	120					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.Q120L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CGGGCACCACAGCACAAAGGG	0.557																																						uc003nfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CAG>CTG		tripartite motif-containing 38							63.0	63.0	63.0					6																	25967109		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25967109A>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.359A>T	6.37:g.25967109A>T	ENSP00000349596:p.Gln120Leu					TRIM38_uc003nfn.2_Missense_Mutation_p.Q120L	p.Q120L	NM_006355	NP_006346	O00635	TRI38_HUMAN			3	794	+			120			B box-type.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.359A>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	19.65	3.867040	0.72065	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.56275	0.47;0.47;0.47	4.37	-1.27	0.09347	Zinc finger, B-box (3);	1.020940	0.07851	N	0.964701	T	0.32793	0.0841	L	0.45285	1.41	0.09310	N	1	P;P	0.45348	0.856;0.856	P;P	0.51055	0.657;0.657	T	0.26430	-1.0103	10	0.72032	D	0.01	.	4.2693	0.10778	0.5158:0.1733:0.3109:0.0	.	120;120	B2R862;O00635	.;TRI38_HUMAN	L	120	ENSP00000443976:Q120L;ENSP00000230099:Q120L;ENSP00000349596:Q120L	ENSP00000230099:Q120L	Q	+	2	0	TRIM38	26075088	0.001000	0.12720	0.012000	0.15200	0.408000	0.30992	-0.042000	0.12063	-0.173000	0.10761	0.477000	0.44152	CAG		PASS	0.557	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			12	49	12	49	---	---	---	---
C2	717	broad.mit.edu	37	6	31902047	31902047	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:31902047A>G	ENST00000299367.5	+	6	1096	c.820A>G	c.(820-822)Aag>Gag	p.K274E	CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.K274E|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Missense_Mutation_p.K142E	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	274	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.K274E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCTCATCTTCAAGGAGAGCGC	0.547																																						uc003nyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(820-822)AAG>GAG		complement component 2 isoform 1 preproprotein							158.0	152.0	154.0					6																	31902047		2203	4300	6503	SO:0001583	missense	717				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr6:31902047A>G		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.820A>G	6.37:g.31902047A>G	ENSP00000299367:p.Lys274Glu					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.K274E|C2_uc010jtk.2_Missense_Mutation_p.K142E|C2_uc011doq.1_Missense_Mutation_p.K245E|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	p.K274E	NM_000063	NP_000054	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	6	1084	+		Ovarian(999;0.00965)	274			VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.820A>G	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	A	32	5.172072	0.94807	.	.	ENSG00000166278	ENST00000452202;ENST00000299367;ENST00000442278;ENST00000418949;ENST00000494905	D;D;D;D;D	0.87887	-1.8;-2.31;-2.31;-1.8;-1.8	4.94	4.94	0.65067	von Willebrand factor, type A (3);	0.000000	0.41396	D	0.000897	D	0.89694	0.6789	.	.	.	0.80722	D	1	D;D;D;P	0.63046	0.966;0.964;0.992;0.799	P;P;P;B	0.61275	0.641;0.623;0.886;0.137	D	0.90947	0.4802	9	0.72032	D	0.01	-19.9479	11.144	0.48419	1.0:0.0:0.0:0.0	.	245;142;274;274	B4DV48;E9PFN7;P06681;Q8N6L6	.;.;CO2_HUMAN;.	E	151;274;142;274;133	ENSP00000406121:K151E;ENSP00000299367:K274E;ENSP00000395683:K142E;ENSP00000406190:K274E;ENSP00000419048:K133E	ENSP00000299367:K274E	K	+	1	0	C2	32010026	1.000000	0.71417	0.990000	0.47175	0.561000	0.35649	4.334000	0.59291	2.200000	0.70718	0.533000	0.62120	AAG		PASS	0.547	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			38	177	38	177	---	---	---	---
SPDEF	25803	broad.mit.edu	37	6	34507062	34507062	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:34507062T>C	ENST00000374037.3	-	5	1208	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	SPDEF_ENST00000544425.1_Missense_Mutation_p.Y249C	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	265					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y265C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GAAGCGGCCATAGCTGTGGGG	0.617																																						uc003ojq.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(793-795)TAT>TGT		SAM pointed domain containing ets transcription							131.0	130.0	130.0					6																	34507062		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34507062T>C	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.794A>G	6.37:g.34507062T>C	ENSP00000363149:p.Tyr265Cys					SPDEF_uc011dsq.1_Missense_Mutation_p.Y249C	p.Y265C	NM_012391	NP_036523	O95238	SPDEF_HUMAN			5	1209	-			265			ETS.		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.794A>G	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790556	0.50102	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.14766	2.48;2.48	4.94	3.75	0.43078	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.062574	0.64402	D	0.000003	T	0.05227	0.0139	L	0.35341	1.055	0.80722	D	1	B;B	0.28208	0.089;0.203	B;B	0.32583	0.103;0.148	T	0.21690	-1.0238	10	0.35671	T	0.21	.	11.9513	0.52956	0.0:0.0:0.1457:0.8543	.	249;265	F5H778;O95238	.;SPDEF_HUMAN	C	265;249	ENSP00000363149:Y265C;ENSP00000442715:Y249C	ENSP00000363149:Y265C	Y	-	2	0	SPDEF	34615040	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	6.068000	0.71201	0.806000	0.34183	0.459000	0.35465	TAT		PASS	0.617	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		15	114	15	114	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35214015	35214015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:35214015C>T	ENST00000274938.7	+	21	2785	c.2785C>T	c.(2785-2787)Cga>Tga	p.R929*	SCUBE3_ENST00000394681.1_Nonsense_Mutation_p.R945*	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.R929*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGACATTGTGCGAGATGGCCG	0.458																																						uc003okf.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2785-2787)CGA>TGA		signal peptide, CUB domain, EGF-like 3							149.0	152.0	151.0					6																	35214015		2203	4300	6503	SO:0001587	stop_gained	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35214015C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2785C>T	6.37:g.35214015C>T	ENSP00000274938:p.Arg929*					SCUBE3_uc003okg.1_Nonsense_Mutation_p.R928*|SCUBE3_uc003okh.1_Nonsense_Mutation_p.R816*	p.R929*	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			21	2791	+			929						Nonsense_Mutation	SNP	ENST00000274938.7	37	c.2785C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	39	7.853699	0.98525	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	.	.	.	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2008	0.82071	0.1341:0.8659:0.0:0.0	.	.	.	.	X	945;929	.	ENSP00000274938:R929X	R	+	1	2	SCUBE3	35321993	0.737000	0.28175	1.000000	0.80357	0.994000	0.84299	1.394000	0.34509	1.447000	0.47661	0.650000	0.86243	CGA		PASS	0.458	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		24	151	24	151	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36931007	36931007	+	Silent	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:36931007C>T	ENST00000373674.3	+	5	1217	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	297					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.L297L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCTCACAGCCTGCCCTCCTT	0.532																																						uc003ona.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)CTG>TTG		protease inhibitor 16 precursor							80.0	66.0	71.0					6																	36931007		2203	4300	6503	SO:0001819	synonymous_variant	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36931007C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.889C>T	6.37:g.36931007C>T						PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Silent_p.L68L	p.L297L	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			5	1217	+			297			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	c.889C>T	CCDS34440.1																																																																																				PASS	0.532	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		22	65	22	65	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168703	41168703	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:41168703C>A	ENST00000483722.1	-	1	229	c.44G>T	c.(43-45)gGt>gTt	p.G15V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	15					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G74V(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAGACGCAACCCTGTGGCCA	0.622																																						uc010jxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(43-45)GGT>GTT		triggering receptor expressed on myeloid							25.0	25.0	25.0					6																	41168703		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168703C>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.44G>T	6.37:g.41168703C>A	ENSP00000418767:p.Gly15Val						p.G15V	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			1	223	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		15					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.44G>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785444	0.31593	.	.	ENSG00000112195	ENST00000483722	T	0.06933	3.24	5.19	3.04	0.35103	.	0.148255	0.31859	N	0.006949	T	0.03651	0.0104	L	0.34521	1.04	0.26535	N	0.97419	D	0.54207	0.965	P	0.48598	0.583	T	0.28490	-1.0042	10	0.66056	D	0.02	-9.6897	6.9846	0.24721	0.2515:0.5821:0.1664:0.0	.	15	Q5T2D2	TRML2_HUMAN	V	15	ENSP00000418767:G15V	ENSP00000418767:G15V	G	-	2	0	TREML2	41276681	0.000000	0.05858	0.763000	0.31416	0.034000	0.12701	-0.049000	0.11924	1.274000	0.44362	0.563000	0.77884	GGT		PASS	0.622	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		4	7	4	7	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168707	41168707	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:41168707G>T	ENST00000483722.1	-	1	225	c.40C>A	c.(40-42)Cag>Aag	p.Q14K		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	14					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q73K(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACGCAACCCTGTGGCCACAGC	0.622																																						uc010jxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(40-42)CAG>AAG		triggering receptor expressed on myeloid							25.0	25.0	25.0					6																	41168707		2202	4300	6502	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168707G>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.40C>A	6.37:g.41168707G>T	ENSP00000418767:p.Gln14Lys						p.Q14K	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			1	219	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		14					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.40C>A	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	9.887	1.203076	0.22121	.	.	ENSG00000112195	ENST00000483722	T	0.06142	3.34	5.19	4.25	0.50352	.	0.345494	0.21348	N	0.076004	T	0.02304	0.0071	L	0.36672	1.1	0.09310	N	0.999993	B	0.23891	0.093	B	0.25140	0.058	T	0.35895	-0.9770	10	0.37606	T	0.19	-6.476	10.5014	0.44808	0.0:0.0:0.8067:0.1933	.	14	Q5T2D2	TRML2_HUMAN	K	14	ENSP00000418767:Q14K	ENSP00000418767:Q14K	Q	-	1	0	TREML2	41276685	0.018000	0.18449	0.922000	0.36590	0.072000	0.16883	1.203000	0.32284	2.578000	0.87016	0.563000	0.77884	CAG		PASS	0.622	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		4	8	4	8	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51774224	51774224	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:51774224G>T	ENST00000371117.3	-	40	6814	c.6539C>A	c.(6538-6540)tCc>tAc	p.S2180Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2180Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2180					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S2180Y(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATATCCCTGGATCCTAGCAT	0.483																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6538-6540)TCC>TAC		fibrocystin isoform 1							197.0	187.0	191.0					6																	51774224		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51774224G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6539C>A	6.37:g.51774224G>T	ENSP00000360158:p.Ser2180Tyr					PKHD1_uc010jzn.1_Missense_Mutation_p.S205Y|PKHD1_uc003pai.2_Missense_Mutation_p.S2180Y	p.S2180Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			40	6815	-	Lung NSC(77;0.0605)		2180			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6539C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.503831	0.64410	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90788	-2.52;-2.73	5.61	5.61	0.85477	.	0.266281	0.32593	N	0.005881	D	0.93064	0.7792	M	0.68317	2.08	0.30637	N	0.756862	D;D;D	0.76494	0.994;0.995;0.999	P;P;D	0.65573	0.87;0.904;0.936	D	0.91028	0.4862	10	0.87932	D	0	.	16.7773	0.85555	0.0:0.0:1.0:0.0	.	2180;2180;2180	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Y	2180	ENSP00000360158:S2180Y;ENSP00000341097:S2180Y	ENSP00000341097:S2180Y	S	-	2	0	PKHD1	51882183	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	3.911000	0.56378	2.624000	0.88883	0.563000	0.77884	TCC		PASS	0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		13	76	13	76	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55264165	55264165	+	Splice_Site	SNP	A	A	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:55264165A>G	ENST00000340465.2	+	8	1134		c.e8-1			NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like						negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTTTTTCTAGGAGAAGTAA	0.313																																						uc003pcm.1																			1	Unknown(1)		lung(1)	ovary(1)|breast(1)	2						c.e8-2		GDNF family receptor alpha like precursor							58.0	59.0	59.0					6																	55264165		2202	4300	6502	SO:0001630	splice_region_variant	389400					integral to membrane	receptor activity	g.chr6:55264165A>G	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.1049-1A>G	6.37:g.55264165A>G							p.G350_splice	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1135	+	Lung NSC(77;0.0875)|Renal(3;0.122)							Q5VTF6	Splice_Site	SNP	ENST00000340465.2	37	c.1049_splice	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146678	0.57151	.	.	ENSG00000187871	ENST00000340465	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5247	0.56079	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GFRAL	55372124	0.997000	0.39634	0.966000	0.40874	0.702000	0.40608	4.247000	0.58750	2.208000	0.71279	0.533000	0.62120	.		PASS	0.313	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	Intron	4	14	4	14	---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82909856	82909856	+	Splice_Site	SNP	A	A	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:82909856A>C	ENST00000306270.7	-	21	3575		c.e21+1		IBTK_ENST00000503631.1_Splice_Site|IBTK_ENST00000510291.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.?(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTTCCACGAACCTGTAGATG	0.378																																						uc003pjl.1																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.e21+1		inhibitor of Bruton's tyrosine kinase							150.0	148.0	149.0					6																	82909856		2203	4300	6503	SO:0001630	splice_region_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82909856A>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3025+1T>G	6.37:g.82909856A>C						IBTK_uc011dyu.1_Splice_Site|IBTK_uc011dyv.1_Splice_Site_p.E1009_splice|IBTK_uc011dyw.1_Splice_Site_p.G808_splice|IBTK_uc010kbi.1_Splice_Site_p.G703_splice|IBTK_uc003pjm.2_Splice_Site_p.G1009_splice	p.G1009_splice	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	21	3552	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)						Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	ENST00000306270.7	37	c.3025_splice	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188741	0.78789	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2922	0.73875	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IBTK	82966575	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	8.157000	0.89647	2.012000	0.59069	0.482000	0.46254	.		PASS	0.378	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	Intron	12	42	12	42	---	---	---	---
PRSS35	167681	broad.mit.edu	37	6	84234230	84234230	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:84234230C>A	ENST00000369700.3	+	2	1247	c.1070C>A	c.(1069-1071)cCa>cAa	p.P357Q	PRSS35_ENST00000536636.1_Missense_Mutation_p.P357Q	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	357	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.P357Q(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CTGAAAGATCCAGACAAAAAG	0.517																																						uc003pjz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1069-1071)CCA>CAA		protease, serine, 35 precursor							82.0	81.0	82.0					6																	84234230		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234230C>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1070C>A	6.37:g.84234230C>A	ENSP00000358714:p.Pro357Gln					PRSS35_uc010kbm.2_Missense_Mutation_p.P357Q	p.P357Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	1233	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	357			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.1070C>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462372	0.63513	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.41758	0.99;0.99	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.164767	0.53938	D	0.000042	T	0.46151	0.1378	L	0.55103	1.725	0.80722	D	1	P	0.52577	0.954	P	0.57960	0.83	T	0.09058	-1.0692	10	0.16420	T	0.52	-2.3137	20.2946	0.98546	0.0:1.0:0.0:0.0	.	357	Q8N3Z0	PRS35_HUMAN	Q	357	ENSP00000440870:P357Q;ENSP00000358714:P357Q	ENSP00000358714:P357Q	P	+	2	0	PRSS35	84290949	1.000000	0.71417	0.049000	0.19019	0.961000	0.63080	7.487000	0.81328	2.804000	0.96469	0.462000	0.41574	CCA		PASS	0.517	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		18	52	18	52	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90471376	90471376	+	Missense_Mutation	SNP	G	G	T	rs368899195	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:90471376G>T	ENST00000369393.3	-	17	2563	c.2448C>A	c.(2446-2448)ttC>ttA	p.F816L	MDN1_ENST00000428876.1_Missense_Mutation_p.F816L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	816					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.F816L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTACAAATGCGAACAATAAGG	0.333																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(2446-2448)TTC>TTA		MDN1, midasin homolog							140.0	130.0	134.0					6																	90471376		2203	4298	6501	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90471376G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2448C>A	6.37:g.90471376G>T	ENSP00000358400:p.Phe816Leu					MDN1_uc003pno.1_Missense_Mutation_p.F234L	p.F816L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	17	2564	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	816					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2448C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525837	0.44969	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.40476	1.03;1.03;1.03	5.41	3.01	0.34805	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.67517	2.055	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51529	-0.8694	10	0.66056	D	0.02	.	9.8447	0.41019	0.8602:0.0:0.1398:0.0	.	743;816	Q5T795;Q9NU22	.;MDN1_HUMAN	L	816;816;743	ENSP00000358400:F816L;ENSP00000413970:F816L;ENSP00000409664:F743L	ENSP00000358400:F816L	F	-	3	2	MDN1	90528097	1.000000	0.71417	0.999000	0.59377	0.645000	0.38454	1.621000	0.36986	0.460000	0.27045	-0.458000	0.05436	TTC		PASS	0.333	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			4	31	4	31	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90499528	90499528	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:90499528C>A	ENST00000369393.3	-	7	1316	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E401*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	401					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E401*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAATATCCTCCAGAAGGATC	0.468																																						uc003pnn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)	10						c.(1201-1203)GAG>TAG		MDN1, midasin homolog							70.0	75.0	73.0					6																	90499528		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90499528C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1201G>T	6.37:g.90499528C>A	ENSP00000358400:p.Glu401*					MDN1_uc003pnp.1_Nonsense_Mutation_p.E401*	p.E401*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	7	1317	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	401					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.1201G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	39	7.446363	0.98289	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.9936	0.92803	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000358400:E401X	E	-	1	0	MDN1	90556249	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.729000	0.84864	2.482000	0.83794	0.655000	0.94253	GAG		PASS	0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	56	5	56	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90718521	90718521	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:90718521C>G	ENST00000257749.4	-	6	750	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	BACH2_ENST00000343122.3_Missense_Mutation_p.E15Q|BACH2_ENST00000537989.1_Missense_Mutation_p.E15Q	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	15						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.E15Q(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTGGACTCATACACATAC	0.473																																						uc011eab.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(43-45)GAG>CAG		BTB and CNC homology 1, basic leucine zipper							156.0	147.0	150.0					6																	90718521		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90718521C>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.43G>C	6.37:g.90718521C>G	ENSP00000257749:p.Glu15Gln					BACH2_uc003pnw.2_Missense_Mutation_p.E15Q|BACH2_uc010kch.2_Missense_Mutation_p.E15Q	p.E15Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	6	852	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	15					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.43G>C	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915600	0.73098	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.03	5.03	0.67393	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.31926	0.97	0.58432	D	0.999992	D	0.71674	0.998	D	0.71870	0.975	T	0.06092	-1.0846	10	0.66056	D	0.02	0.5976	18.7262	0.91714	0.0:1.0:0.0:0.0	.	15	Q9BYV9	BACH2_HUMAN	Q	15	ENSP00000257749:E15Q;ENSP00000437473:E15Q;ENSP00000345642:E15Q;ENSP00000384145:E15Q;ENSP00000397668:E15Q	ENSP00000257749:E15Q	E	-	1	0	BACH2	90775242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.610000	0.67668	2.507000	0.84556	0.591000	0.81541	GAG		PASS	0.473	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		8	54	8	54	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597032	136597032	+	Missense_Mutation	SNP	C	C	T	rs368236501		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:136597032C>T	ENST00000531224.1	-	5	1883	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R542H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R542H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R371H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R542H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R544H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	544					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R544H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GACTTCAGGACGGTGAGAATC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1630-1632)CGT>CAT		BCL2-associated transcription factor 1 isoform		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	202.0	198.0	199.0		1625,1112,1631	5.5	1.0	6		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	542/870,371/748,544/921	136597032	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597032C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1631G>A	6.37:g.136597032C>T	ENSP00000435210:p.Arg544His					BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H	p.R544H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1884	-	Colorectal(23;0.24)		544					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1631G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950944	0.34471	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.03263	0.0095	N	0.08118	0	0.80722	D	1	B;P;B;B	0.35481	0.364;0.504;0.364;0.414	B;B;B;B	0.26693	0.032;0.032;0.032;0.072	T	0.36040	-0.9764	10	0.62326	D	0.03	-6.6411	14.5891	0.68351	0.146:0.854:0.0:0.0	.	542;542;544;371	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	544;542;544;371;542;542;544	ENSP00000435210:R544H;ENSP00000229446:R542H;ENSP00000435441:R544H;ENSP00000436501:R371H;ENSP00000434826:R542H;ENSP00000376159:R542H;ENSP00000431734:R544H	ENSP00000229446:R542H	R	-	2	0	BCLAF1	136638725	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.070000	0.50033	2.747000	0.94245	0.460000	0.39030	CGT		PASS	0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		7	67	7	67	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138200413	138200413	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:138200413G>A	ENST00000237289.4	+	7	1897	c.1831G>A	c.(1831-1833)Ggc>Agc	p.G611S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	611	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.G611S(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAGAAAAGCCGGCTGCGTGTA	0.532			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2				Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		26	Whole gene deletion(25)|Substitution - Missense(1)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(1831-1833)GGC>AGC		tumor necrosis factor, alpha-induced protein 3							65.0	72.0	70.0					6																	138200413		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138200413G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1831G>A	6.37:g.138200413G>A	ENSP00000237289:p.Gly611Ser					TNFAIP3_uc003qhs.2_Missense_Mutation_p.G611S	p.G611S	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1897	+	Breast(32;0.135)|Colorectal(23;0.24)		611			Interaction with NAF1 (By similarity).|A20-type 4.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1831G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990640	0.93106	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.61392	0.11	5.82	4.96	0.65561	Zinc finger, A20-type (3);	0.046863	0.85682	N	0.000000	T	0.66858	0.2832	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.71258	-0.4646	10	0.54805	T	0.06	-16.7507	12.9875	0.58599	0.0745:0.0:0.9255:0.0	.	611	P21580	TNAP3_HUMAN	S	611	ENSP00000237289:G611S	ENSP00000237289:G611S	G	+	1	0	TNFAIP3	138242106	1.000000	0.71417	0.942000	0.38095	0.981000	0.71138	7.262000	0.78410	1.468000	0.48064	0.655000	0.94253	GGC		PASS	0.532	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			13	110	13	110	---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149700403	149700403	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:149700403C>A	ENST00000367456.1	+	4	1929	c.1352C>A	c.(1351-1353)cCt>cAt	p.P451H	TAB2_ENST00000392282.1_Missense_Mutation_p.P451H|TAB2_ENST00000538427.1_Missense_Mutation_p.P451H|TAB2_ENST00000286332.5_Missense_Mutation_p.P451H|TAB2_ENST00000536230.1_Missense_Mutation_p.P419H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	451					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.P451H(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCAACCTCTCCTCGAGTGGTA	0.507																																						uc003qmj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1351-1353)CCT>CAT		mitogen-activated protein kinase kinase kinase 7							119.0	114.0	116.0					6																	149700403		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700403C>A	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1352C>A	6.37:g.149700403C>A	ENSP00000356426:p.Pro451His					TAB2_uc011eec.1_Missense_Mutation_p.P419H|TAB2_uc010kia.1_Missense_Mutation_p.P451H|TAB2_uc010kib.1_Missense_Mutation_p.P451H|TAB2_uc003qmk.3_RNA	p.P451H	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1530	+			451					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1352C>A	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597711	0.66332	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.33650	-0.9860	10	0.87932	D	0	-12.3136	19.614	0.95622	0.0:1.0:0.0:0.0	.	419;451	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	419;451;451;451;451	ENSP00000443206:P419H;ENSP00000376106:P451H;ENSP00000445752:P451H;ENSP00000356426:P451H;ENSP00000286332:P451H	ENSP00000286332:P451H	P	+	2	0	TAB2	149742096	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.127000	0.77210	2.873000	0.98535	0.561000	0.74099	CCT		PASS	0.507	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			6	79	6	79	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2275030	2275030	+	5'Flank	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:2275030C>A	ENST00000406869.1	-	0	0				FTSJ2_ENST00000242257.8_Silent_p.A156A|FTSJ2_ENST00000407040.1_Silent_p.A62A|MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000440306.2_3'UTR|MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|MAD1L1_ENST00000265854.7_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.A156A(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGGCATTGGGCGCCATGTCGC	0.592																																						uc003slm.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	ovary(1)	1						c.(466-468)GCG>GCT		FtsJ homolog 2							90.0	82.0	85.0					7																	2275030		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2275030C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275030C>A	Exception_encountered					MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Silent_p.A2A|FTSJ2_uc003sll.2_Silent_p.A2A|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Silent_p.A2A	p.A156A	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	497	-		Ovarian(82;0.0253)	156					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.468G>T	CCDS43539.1																																																																																				PASS	0.592	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		10	46	10	46	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23793980	23793980	+	Missense_Mutation	SNP	A	A	C	rs200445309		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:23793980A>C	ENST00000355870.3	+	10	1299	c.1180A>C	c.(1180-1182)Ata>Cta	p.I394L	STK31_ENST00000433467.2_Missense_Mutation_p.I394L|STK31_ENST00000354639.3_Missense_Mutation_p.I371L|STK31_ENST00000428484.1_Missense_Mutation_p.I371L|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	394						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.I394L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCAGATGCTATACAAGTGTT	0.373																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1180-1182)ATA>CTA		serine/threonine kinase 31 isoform a							158.0	152.0	154.0					7																	23793980		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23793980A>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1180A>C	7.37:g.23793980A>C	ENSP00000348132:p.Ile394Leu					STK31_uc003swt.3_Missense_Mutation_p.I371L|STK31_uc011jze.1_Missense_Mutation_p.I394L|STK31_uc010kuq.2_Missense_Mutation_p.I371L	p.I394L	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			10	1247	+			394					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1180A>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112420	0.56398	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.96	-2.22	0.06952	.	0.532842	0.20632	N	0.088572	T	0.08846	0.0219	L	0.46157	1.445	0.29646	N	0.844324	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.14172	-1.0482	10	0.66056	D	0.02	-0.0111	1.2979	0.02073	0.2374:0.3075:0.3045:0.1505	.	394;394	B4DZ06;Q9BXU1	.;STK31_HUMAN	L	394;394;371;371	ENSP00000348132:I394L;ENSP00000411852:I394L;ENSP00000346660:I371L;ENSP00000406146:I371L	ENSP00000346660:I371L	I	+	1	0	STK31	23760505	0.997000	0.39634	0.967000	0.41034	0.911000	0.54048	0.319000	0.19522	-0.357000	0.08175	-0.446000	0.05623	ATA		PASS	0.373	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		16	42	16	42	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27150165	27150165	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:27150165G>T	ENST00000396352.4	-	2	294	c.95C>A	c.(94-96)cCg>cAg	p.P32Q	HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.P32Q|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	32					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P32Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CGCCGGGTACGGCTGCTGATT	0.657																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(94-96)CCG>CAG		homeobox A3 isoform a							32.0	24.0	27.0					7																	27150165		2047	4078	6125	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27150165G>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.95C>A	7.37:g.27150165G>T	ENSP00000379640:p.Pro32Gln					HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.P32Q	p.P32Q	NM_030661	NP_109377	O43365	HXA3_HUMAN			2	295	-			32					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.95C>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641218	0.67244	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.49	4.53	0.55603	.	0.107188	0.64402	D	0.000004	T	0.16257	0.0391	N	0.03917	-0.325	0.43930	D	0.996581	B	0.14438	0.01	B	0.09377	0.004	T	0.08764	-1.0706	10	0.25751	T	0.34	.	10.9974	0.47585	0.0:0.0:0.5856:0.4144	.	32	O43365	HXA3_HUMAN	Q	32	ENSP00000379640:P32Q;ENSP00000324884:P32Q;ENSP00000429426:P32Q;ENSP00000430566:P32Q	ENSP00000324884:P32Q	P	-	2	0	HOXA3	27116690	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	6.484000	0.73621	2.595000	0.87683	0.462000	0.41574	CCG		PASS	0.657	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			3	6	3	6	---	---	---	---
HOXA7	3204	broad.mit.edu	37	7	27194745	27194745	+	Missense_Mutation	SNP	C	C	A	rs576810987		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:27194745C>A	ENST00000242159.3	-	2	609	c.476G>T	c.(475-477)cGc>cTc	p.R159L	HOXA-AS3_ENST00000521197.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.22_ENST00000467897.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	159	Poly-Arg.				angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R159L(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TTCAATGCGGCGGCGCCGCGT	0.602																																						uc003sys.2																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CGC>CTC		homeobox A7							94.0	100.0	98.0					7																	27194745		2203	4300	6503	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27194745C>A		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.476G>T	7.37:g.27194745C>A	ENSP00000242159:p.Arg159Leu					HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	p.R159L	NM_006896	NP_008827	P31268	HXA7_HUMAN			2	608	-			159			Poly-Arg.|Homeobox.		A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.476G>T	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929894	0.92389	.	.	ENSG00000122592	ENST00000242159	D	0.96011	-3.88	4.96	4.96	0.65561	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98789	1.0735	10	0.87932	D	0	.	18.2675	0.90056	0.0:1.0:0.0:0.0	.	159	P31268	HXA7_HUMAN	L	159	ENSP00000242159:R159L	ENSP00000242159:R159L	R	-	2	0	HOXA7	27161270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.679000	0.84048	2.324000	0.78689	0.456000	0.33151	CGC		PASS	0.602	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			29	120	29	120	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30831048	30831048	+	Nonsense_Mutation	SNP	G	G	T	rs374435049		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:30831048G>T	ENST00000265299.6	+	5	1008	c.931G>T	c.(931-933)Gag>Tag	p.E311*	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	311								p.E311*(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGATCCCTCCGAGGACACCCC	0.622																																						uc003tbt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(931-933)GAG>TAG		hypothetical protein LOC84182							50.0	63.0	59.0					7																	30831048		2039	4181	6220	SO:0001587	stop_gained	84182							g.chr7:30831048G>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.931G>T	7.37:g.30831048G>T	ENSP00000265299:p.Glu311*					FAM188B_uc010kwe.2_Nonsense_Mutation_p.E282*	p.E311*	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			5	1008	+			311					Q71AZ7|Q9H6D2	Nonsense_Mutation	SNP	ENST00000265299.6	37	c.931G>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871585	0.72065	.	.	ENSG00000106125	ENST00000265299	.	.	.	4.55	4.55	0.56014	.	0.377447	0.25400	N	0.030942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.2732	12.9952	0.58642	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000265299:E311X	E	+	1	0	FAM188B	30797573	0.975000	0.34042	0.264000	0.24511	0.039000	0.13416	4.060000	0.57477	2.524000	0.85096	0.563000	0.77884	GAG		PASS	0.622	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		4	39	4	39	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45725621	45725621	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:45725621T>A	ENST00000297323.7	+	13	2156	c.2134T>A	c.(2134-2136)Tct>Act	p.S712T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	712					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.S712T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTCCTTTCGTCTGGGGGCCA	0.652																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2134-2136)TCT>ACT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						54.0	42.0	46.0					7																	45725621		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45725621T>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2134T>A	7.37:g.45725621T>A	ENSP00000297323:p.Ser712Thr						p.S712T	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			13	2152	+			712					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2134T>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	T	5.822	0.335897	0.11013	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.50548	0.74	3.8	-1.81	0.07882	.	0.572646	0.18273	N	0.146272	T	0.29945	0.0749	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18555	-1.0333	10	0.18276	T	0.48	.	5.2241	0.15385	0.0:0.3803:0.2361:0.3836	.	712	Q08828	ADCY1_HUMAN	T	712	ENSP00000297323:S712T	ENSP00000297323:S712T	S	+	1	0	ADCY1	45692146	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	-0.048000	0.11944	-0.535000	0.06307	0.379000	0.24179	TCT		PASS	0.652	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		5	25	5	25	---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	74016709	74016709	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:74016709G>T	ENST00000265755.3	+	27	3222	c.2829G>T	c.(2827-2829)atG>atT	p.M943I	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.M960I|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.M928I|GTF2IRD1_ENST00000476977.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	943					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M943I(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAATGTACATGGTGGACTATG	0.478																																						uc003uaq.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2827-2829)ATG>ATT		GTF2I repeat domain containing 1 isoform 1							142.0	130.0	134.0					7																	74016709		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74016709G>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2829G>T	7.37:g.74016709G>T	ENSP00000265755:p.Met943Ile					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.M960I|GTF2IRD1_uc003uap.2_Missense_Mutation_p.M928I|GTF2IRD1_uc003uar.1_3'UTR	p.M943I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			27	3222	+			943	Missing: Cytoplasmic localization.				O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2829G>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318909	0.60524	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337	T;T;T	0.37058	1.22;1.22;1.23	5.66	5.66	0.87406	.	0.292083	0.36628	N	0.002486	T	0.54549	0.1865	L	0.48642	1.525	0.80722	D	1	P;D;D	0.54964	0.936;0.969;0.962	P;D;D	0.66716	0.885;0.914;0.946	T	0.50668	-0.8801	10	0.52906	T	0.07	-27.5613	18.7158	0.91675	0.0:0.0:1.0:0.0	.	960;943;928	Q6DSU6;Q9UHL9;Q9UHL9-2	.;GT2D1_HUMAN;.	I	943;960;928	ENSP00000265755:M943I;ENSP00000397566:M960I;ENSP00000408477:M928I	ENSP00000265755:M943I	M	+	3	0	GTF2IRD1	73654645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.464000	0.73534	2.662000	0.90505	0.561000	0.74099	ATG		PASS	0.478	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		5	68	5	68	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100680080	100680080	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:100680080G>T	ENST00000306151.4	+	3	5447	c.5383G>T	c.(5383-5385)Ggt>Tgt	p.G1795C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1795	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G1795C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGAAGGTACCAGCAT	0.517																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5383-5385)GGT>TGT		mucin 17 precursor							267.0	271.0	270.0					7																	100680080		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680080G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5383G>T	7.37:g.100680080G>T	ENSP00000302716:p.Gly1795Cys					MUC17_uc010lho.1_RNA	p.G1795C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5436	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1795			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|28.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5383G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.432	-0.902748	0.02453	.	.	ENSG00000169876	ENST00000306151	T	0.06218	3.33	0.824	-1.65	0.08291	.	.	.	.	.	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	1	D	0.57899	0.981	P	0.46299	0.511	T	0.24333	-1.0163	9	0.59425	D	0.04	.	2.3111	0.04186	0.4294:0.3016:0.269:0.0	.	1795	Q685J3	MUC17_HUMAN	C	1795	ENSP00000302716:G1795C	ENSP00000302716:G1795C	G	+	1	0	MUC17	100466800	0.001000	0.12720	0.002000	0.10522	0.042000	0.13812	0.747000	0.26290	-1.227000	0.02571	0.134000	0.15878	GGT		PASS	0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		11	318	11	318	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100685234	100685234	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:100685234G>T	ENST00000306151.4	+	3	10601	c.10537G>T	c.(10537-10539)Ggt>Tgt	p.G3513C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3513	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.G3513C(1)|p.G3513S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCAACTGCTGGTGAAGGAAG	0.493																																						uc003uxp.1																			2	Substitution - Missense(2)	p.G3513V(1)	lung(1)|skin(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10537-10539)GGT>TGT		mucin 17 precursor							232.0	245.0	240.0					7																	100685234		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685234G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10537G>T	7.37:g.100685234G>T	ENSP00000302716:p.Gly3513Cys					MUC17_uc010lho.1_RNA	p.G3513C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10590	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3513			Extracellular (Potential).|Ser-rich.|57.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10537G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	5.416	0.261855	0.10239	.	.	ENSG00000169876	ENST00000306151	T	0.04809	3.55	1.37	-2.74	0.05932	.	.	.	.	.	T	0.06142	0.0159	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.28235	-1.0050	9	0.54805	T	0.06	.	0.5397	0.00643	0.3033:0.1919:0.3141:0.1907	.	3513	Q685J3	MUC17_HUMAN	C	3513	ENSP00000302716:G3513C	ENSP00000302716:G3513C	G	+	1	0	MUC17	100471954	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.079000	0.11357	-2.686000	0.00406	-1.453000	0.01033	GGT		PASS	0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		12	418	12	418	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135277850	135277850	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:135277850G>T	ENST00000285968.6	+	12	1766	c.1740G>T	c.(1738-1740)caG>caT	p.Q580H	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	580					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q580H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAGTGTCCAGTACCGTCACC	0.488																																						uc003vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1738-1740)CAG>CAT		nucleoporin 205kDa							202.0	179.0	187.0					7																	135277850		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135277850G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1740G>T	7.37:g.135277850G>T	ENSP00000285968:p.Gln580His						p.Q580H	NM_015135	NP_055950	Q92621	NU205_HUMAN			12	1771	+			580					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.1740G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902503	0.17760	.	.	ENSG00000155561	ENST00000285968	T	0.32515	1.45	5.92	3.11	0.35812	.	0.210321	0.52532	N	0.000078	T	0.13286	0.0322	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.09164	-1.0687	10	0.15066	T	0.55	-19.7276	8.237	0.31631	0.1296:0.2375:0.6328:0.0	.	580	Q92621	NU205_HUMAN	H	580	ENSP00000285968:Q580H	ENSP00000285968:Q580H	Q	+	3	2	NUP205	134928390	0.968000	0.33430	1.000000	0.80357	0.784000	0.44337	0.253000	0.18296	0.846000	0.35142	0.650000	0.86243	CAG		PASS	0.488	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			14	70	14	70	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146805264	146805264	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:146805264C>A	ENST00000361727.3	+	5	1092	c.576C>A	c.(574-576)ggC>ggA	p.G192G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	192					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G192G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTTTGATGGCCATGTTGTAT	0.358										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(574-576)GGC>GGA		cell recognition molecule Caspr2 precursor							90.0	86.0	88.0					7																	146805264		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146805264C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.576C>A	7.37:g.146805264C>A		HNSCC(39;0.1)					p.G192G	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		5	1092	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	192			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.576C>A	CCDS5889.1																																																																																				PASS	0.358	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			5	12	5	12	---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28651468	28651468	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:28651468G>T	ENST00000521022.1	-	10	974	c.893C>A	c.(892-894)cCc>cAc	p.P298H	INTS9_ENST00000397363.4_Missense_Mutation_p.P192H|INTS9_ENST00000416984.2_Missense_Mutation_p.P277H|INTS9_ENST00000521777.1_Missense_Mutation_p.P274H	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	298					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.P298H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGGGTAGCAGGGAACCAACAC	0.483																																						uc003xha.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(892-894)CCC>CAC		integrator complex subunit 9 isoform 1							90.0	87.0	88.0					8																	28651468		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28651468G>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.893C>A	8.37:g.28651468G>T	ENSP00000429065:p.Pro298His					INTS9_uc011lav.1_Missense_Mutation_p.P274H|INTS9_uc011law.1_Missense_Mutation_p.P277H|INTS9_uc011lax.1_Missense_Mutation_p.P191H|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.P298H	p.P298H	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	10	1192	-		Ovarian(32;0.0439)	298					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.893C>A	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229192	0.95173	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436	T;T;T;T;T	0.80480	-1.36;-1.34;-1.38;-1.23;-0.77	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.91616	0.7351	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92482	0.5993	10	0.87932	D	0	-28.7935	18.3987	0.90509	0.0:0.0:1.0:0.0	.	277;298;298	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	H	298;277;142;274;192;253	ENSP00000429065:P298H;ENSP00000398208:P277H;ENSP00000430943:P274H;ENSP00000380520:P192H;ENSP00000427789:P253H	ENSP00000380520:P192H	P	-	2	0	INTS9	28707387	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.841000	0.99482	2.785000	0.95823	0.655000	0.94253	CCC		PASS	0.483	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		6	65	6	65	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53573532	53573532	+	Silent	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:53573532T>C	ENST00000025008.5	-	11	2104	c.1581A>G	c.(1579-1581)ttA>ttG	p.L527L	RB1CC1_ENST00000435644.2_Silent_p.L527L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.L527L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	527					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.L527L(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGCTTCATATAATCTCTTTC	0.279																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(1579-1581)TTA>TTG		Rb1-inducible coiled coil protein 1 isoform 1							65.0	60.0	61.0					8																	53573532		2201	4294	6495	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573532T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1581A>G	8.37:g.53573532T>C						RB1CC1_uc003xrf.3_Silent_p.L527L	p.L527L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			11	2139	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	527					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.1581A>G	CCDS34892.1																																																																																				PASS	0.279	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		6	15	6	15	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53573823	53573823	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:53573823C>G	ENST00000025008.5	-	10	1900	c.1377G>C	c.(1375-1377)atG>atC	p.M459I	RB1CC1_ENST00000435644.2_Missense_Mutation_p.M459I|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.M459I	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	459					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.M459I(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGCATGAAGCATTACAAAGC	0.358																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(1375-1377)ATG>ATC		Rb1-inducible coiled coil protein 1 isoform 1							78.0	72.0	74.0					8																	53573823		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573823C>G	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1377G>C	8.37:g.53573823C>G	ENSP00000025008:p.Met459Ile					RB1CC1_uc003xrf.3_Missense_Mutation_p.M459I	p.M459I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			10	1935	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	459					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1377G>C	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606206	0.66445	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15256	2.45;2.44;2.44	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	L	0.56769	1.78	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.68943	0.961;0.914	T	0.03034	-1.1080	10	0.13108	T	0.6	-19.791	19.4663	0.94943	0.0:1.0:0.0:0.0	.	459;459	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	I	459	ENSP00000025008:M459I;ENSP00000396067:M459I;ENSP00000445960:M459I	ENSP00000025008:M459I	M	-	3	0	RB1CC1	53736376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.675000	0.91044	0.650000	0.86243	ATG		PASS	0.358	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		5	22	5	22	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68204208	68204208	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:68204208C>A	ENST00000262215.3	-	6	1179	c.790G>T	c.(790-792)Gac>Tac	p.D264Y		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	264					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.D264Y(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGGTCAAGGTCCCCTTCGTGT	0.423																																						uc003xxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(790-792)GAC>TAC		brefeldin A-inhibited guanine							230.0	213.0	219.0					8																	68204208		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68204208C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.790G>T	8.37:g.68204208C>A	ENSP00000262215:p.Asp264Tyr						p.D264Y	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		6	1180	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	264					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.790G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245229	0.22796	.	.	ENSG00000066777	ENST00000262215	T	0.20463	2.07	4.71	3.83	0.44106	Armadillo-type fold (1);	0.397148	0.24798	N	0.035519	T	0.15696	0.0378	L	0.34521	1.04	0.80722	D	1	P	0.36495	0.556	B	0.27170	0.077	T	0.03384	-1.1042	10	0.59425	D	0.04	.	14.9417	0.70997	0.0:0.8563:0.1437:0.0	.	264	Q9Y6D6	BIG1_HUMAN	Y	264	ENSP00000262215:D264Y	ENSP00000262215:D264Y	D	-	1	0	ARFGEF1	68366762	1.000000	0.71417	0.984000	0.44739	0.178000	0.23041	2.905000	0.48727	0.974000	0.38366	-0.481000	0.04817	GAC		PASS	0.423	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		13	59	13	59	---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75941732	75941732	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:75941732G>T	ENST00000262207.4	+	14	1899	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.Q289H|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.Q291H	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	477	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.Q477H(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTCTTTTCAGAATGGAATCT	0.373																																						uc003yan.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1429-1431)CAG>CAT		cysteine-rich secretory protein LCCL domain							89.0	87.0	88.0					8																	75941732		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75941732G>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1431G>T	8.37:g.75941732G>T	ENSP00000262207:p.Gln477His					CRISPLD1_uc011lfk.1_Missense_Mutation_p.Q289H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.Q289H	p.Q477H	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		14	1806	+	Breast(64;0.0799)		477			LCCL 2.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1431G>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945001	0.73672	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89939	-2.59;-2.59;-2.59	5.53	5.53	0.82687	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.92264	0.7546	M	0.74546	2.27	0.58432	D	0.99999	D;D	0.59767	0.979;0.986	P;D	0.65573	0.771;0.936	D	0.91735	0.5399	10	0.66056	D	0.02	.	6.6788	0.23110	0.1992:0.0:0.8008:0.0	.	291;477	B7Z929;Q9H336	.;CRLD1_HUMAN	H	477;289;291	ENSP00000262207:Q477H;ENSP00000430105:Q289H;ENSP00000429746:Q291H	ENSP00000262207:Q477H	Q	+	3	2	CRISPLD1	76104287	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	0.452000	0.21795	2.882000	0.98803	0.655000	0.94253	CAG		PASS	0.373	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		5	21	5	21	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766784	77766784	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:77766784A>C	ENST00000521891.2	+	10	8075	c.7627A>C	c.(7627-7629)Aac>Cac	p.N2543H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2498H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2498H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2517H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2498					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.N2527H(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)			ATTTGACCCCAACAATCCGCT	0.547										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7492-7494)AAC>CAC		zinc finger homeodomain 4							121.0	119.0	119.0					8																	77766784		1988	4157	6145	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766784A>C		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.7627A>C	8.37:g.77766784A>C	ENSP00000430497:p.Asn2543His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.N2543H|ZFHX4_uc003yaw.1_Missense_Mutation_p.N2498H	p.N2498H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7879	+			2498					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7492A>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671026	0.47781	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.72	5.14	5.14	0.70334	.	0.000000	0.47852	U	0.000203	T	0.65428	0.2690	M	0.64997	1.995	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.994	D;D;D	0.72982	0.962;0.973;0.979	T	0.67968	-0.5533	10	0.59425	D	0.04	.	15.1262	0.72483	1.0:0.0:0.0:0.0	.	2498;2498;2543	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2543;2527;2498;2498;2517	ENSP00000430497:N2543H;ENSP00000399605:N2498H;ENSP00000050961:N2498H;ENSP00000430848:N2517H	ENSP00000050961:N2498H	N	+	1	0	ZFHX4	77929339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.139000	0.94554	2.161000	0.67846	0.528000	0.53228	AAC		PASS	0.547	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		31	153	31	153	---	---	---	---
PEX2	5828	broad.mit.edu	37	8	77895842	77895842	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:77895842C>A	ENST00000419564.2	-	4	1037	c.573G>T	c.(571-573)atG>atT	p.M191I	PEX2_ENST00000522527.1_Missense_Mutation_p.M191I|PEX2_ENST00000520103.1_Missense_Mutation_p.M191I|PEX2_ENST00000357039.4_Missense_Mutation_p.M191I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	191					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)	p.M191I(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GTTCCCTATTCATGTATTCAA	0.388																																						uc003yax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(571-573)ATG>ATT		peroxin 2							81.0	86.0	84.0					8																	77895842		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895842C>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.573G>T	8.37:g.77895842C>A	ENSP00000400984:p.Met191Ile					PEX2_uc003yay.2_Missense_Mutation_p.M191I|PEX2_uc003yaz.2_Missense_Mutation_p.M191I	p.M191I	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	1031	-			191					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.573G>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832168	0.91036	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.36	5.36	0.76844	Pex, N-terminal (1);	0.039589	0.85682	D	0.000000	D	0.85771	0.5774	M	0.72353	2.195	0.80722	D	1	P	0.43788	0.817	P	0.44673	0.457	D	0.87259	0.2278	10	0.66056	D	0.02	-26.5465	19.2909	0.94098	0.0:1.0:0.0:0.0	.	191	P28328	PEX2_HUMAN	I	191	ENSP00000349543:M191I;ENSP00000400984:M191I;ENSP00000428590:M191I;ENSP00000428638:M191I	ENSP00000349543:M191I	M	-	3	0	PEX2	78058397	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.448000	0.60027	2.797000	0.96272	0.563000	0.77884	ATG		PASS	0.388	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		10	78	10	78	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103301779	103301779	+	Missense_Mutation	SNP	T	T	C	rs575693424		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:103301779T>C	ENST00000520539.1	-	35	5221	c.4615A>G	c.(4615-4617)Atc>Gtc	p.I1539V	UBR5_ENST00000220959.4_Missense_Mutation_p.I1539V|UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000521922.1_Missense_Mutation_p.I1533V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1539					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.I1539V(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCCTGATGATGTAGGATGAC	0.468																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4615-4617)ATC>GTC		ubiquitin protein ligase E3 component n-recognin							133.0	121.0	125.0					8																	103301779		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103301779T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4615A>G	8.37:g.103301779T>C	ENSP00000429084:p.Ile1539Val					UBR5_uc003yks.1_Missense_Mutation_p.I1539V	p.I1539V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		35	4648	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1539					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.4615A>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223711	0.39300	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.40756	1.02;1.02;1.02	5.91	5.91	0.95273	.	0.122036	0.51477	D	0.000088	T	0.34395	0.0896	N	0.04636	-0.2	0.58432	D	0.999998	P;P	0.35745	0.518;0.518	P;P	0.47827	0.558;0.558	T	0.37174	-0.9717	10	0.24483	T	0.36	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1533;1539	E7EMW7;O95071	.;UBR5_HUMAN	V	1539;1539;1533	ENSP00000429084:I1539V;ENSP00000220959:I1539V;ENSP00000427819:I1533V	ENSP00000220959:I1539V	I	-	1	0	UBR5	103370955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.254000	0.74563	0.533000	0.62120	ATC		PASS	0.468	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	55	8	55	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118184797	118184797	+	Silent	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:118184797G>A	ENST00000456015.2	+	8	987	c.987G>A	c.(985-987)gtG>gtA	p.V329V	SLC30A8_ENST00000427715.2_Silent_p.V280V|SLC30A8_ENST00000519688.1_Silent_p.V280V|SLC30A8_ENST00000521243.1_Silent_p.V280V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	329					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.V329V(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACAGCCAAGTGGTTCGGAGAG	0.507																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(985-987)GTG>GTA		solute carrier family 30 member 8							100.0	94.0	96.0					8																	118184797		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118184797G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.987G>A	8.37:g.118184797G>A						SLC30A8_uc010mcz.2_Silent_p.V280V|SLC30A8_uc011lia.1_Silent_p.V280V|SLC30A8_uc003yog.2_Silent_p.V280V	p.V329V	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		8	1217	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		329			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.987G>A	CCDS6322.1																																																																																				PASS	0.507	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		12	46	12	46	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139190841	139190841	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:139190841C>A	ENST00000395297.1	-	10	1136	c.966G>T	c.(964-966)ctG>ctT	p.L322L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	322								p.L322L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGACTGTGTCCAGGAACTGGG	0.532										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(964-966)CTG>CTT		hypothetical protein LOC51059							127.0	127.0	127.0					8																	139190841		2040	4203	6243	SO:0001819	synonymous_variant	51059							g.chr8:139190841C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.966G>T	8.37:g.139190841C>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L223L|FAM135B_uc003yuz.2_RNA	p.L322L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1137	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		322					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.966G>T	CCDS6375.2																																																																																				PASS	0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		6	31	6	31	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139606266	139606266	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr8:139606266G>T	ENST00000303045.6	-	63	5055	c.4609C>A	c.(4609-4611)Ccc>Acc	p.P1537T	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1517T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1537	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1537T(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCACCTTTGGGACCTATGGGT	0.632										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4609-4611)CCC>ACC		collagen, type XXII, alpha 1							44.0	44.0	44.0					8																	139606266		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606266G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4609C>A	8.37:g.139606266G>T	ENSP00000303153:p.Pro1537Thr	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P817T	p.P1537T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	5056	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1537			Pro-rich.|Gly-rich.|Collagen-like 15.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4609C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708769	0.68615	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94457	-3.43;-3.43	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000131	D	0.96470	0.8848	M	0.64170	1.965	0.80722	D	1	B;D	0.89917	0.103;1.0	P;D	0.91635	0.502;0.999	D	0.94059	0.7325	10	0.15952	T	0.53	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1517;1537	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	1537;1517;1230	ENSP00000303153:P1537T;ENSP00000387655:P1517T	ENSP00000303153:P1537T	P	-	1	0	COL22A1	139675448	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CCC		PASS	0.632	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	34	6	34	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13176150	13176150	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr9:13176150G>T	ENST00000319217.7	-	20	3163	c.2916C>A	c.(2914-2916)ccC>ccA	p.P972P	MPDZ_ENST00000546205.1_Silent_p.P972P|MPDZ_ENST00000541718.1_Silent_p.P972P|MPDZ_ENST00000381022.2_Silent_p.P972P|MPDZ_ENST00000447879.1_Silent_p.P972P|MPDZ_ENST00000536827.1_Silent_p.P972P|MPDZ_ENST00000381015.4_Silent_p.P972P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	972					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.P972P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGCTGAATCGGGTAGCACAG	0.348																																						uc010mia.1																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(2914-2916)CCC>CCA		multiple PDZ domain protein							83.0	68.0	73.0					9																	13176150		1839	4088	5927	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13176150G>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2916C>A	9.37:g.13176150G>T						MPDZ_uc003zkz.3_5'Flank|MPDZ_uc010mhy.2_Silent_p.P972P|MPDZ_uc010mhz.2_Silent_p.P972P|MPDZ_uc011lmn.1_Silent_p.P972P|MPDZ_uc003zlb.3_Silent_p.P972P	p.P972P	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	19	2973	-			972					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.2916C>A																																																																																					PASS	0.348	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		3	6	3	6	---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18928305	18928305	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr9:18928305C>A	ENST00000380534.4	-	4	1449	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	FAM154A_ENST00000542071.1_Missense_Mutation_p.K198N|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	390								p.K390N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ACCAATGAGGCTTACAGCTTT	0.577																																						uc003zni.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1168-1170)AAG>AAT		hypothetical protein LOC158297							82.0	74.0	77.0					9																	18928305		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928305C>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.1170G>T	9.37:g.18928305C>A	ENSP00000369907:p.Lys390Asn					FAM154A_uc010mip.1_Missense_Mutation_p.K198N	p.K390N	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1448	-			390					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.1170G>T	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280941	0.59758	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.33654	2.33;1.4	5.09	3.08	0.35506	.	0.099468	0.44688	D	0.000421	T	0.57021	0.2025	M	0.81341	2.54	0.37908	D	0.931275	D	0.89917	1.0	D	0.91635	0.999	T	0.63902	-0.6532	10	0.72032	D	0.01	-18.0327	8.1138	0.30930	0.0:0.7557:0.0:0.2443	.	390	Q8IYX7	F154A_HUMAN	N	390;198	ENSP00000369907:K390N;ENSP00000438823:K198N	ENSP00000369907:K390N	K	-	3	2	FAM154A	18918305	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.998000	0.29744	1.344000	0.45657	0.650000	0.86243	AAG		PASS	0.577	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		5	22	5	22	---	---	---	---
IFNA16	3449	broad.mit.edu	37	9	21217192	21217192	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr9:21217192A>G	ENST00000380216.1	-	1	118	c.113T>C	c.(112-114)tTg>tCg	p.L38S		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	38					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L38S(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CAGGAGTATCAAGGCCCTCCT	0.498																																						uc003zor.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(112-114)TTG>TCG		interferon, alpha 16 precursor							94.0	95.0	94.0					9																	21217192		2203	4297	6500	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217192A>G		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.113T>C	9.37:g.21217192A>G	ENSP00000369564:p.Leu38Ser					IFNA14_uc003zoo.1_Intron	p.L38S	NM_002173	NP_002164	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	119	-			38					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.113T>C	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	12.70	2.015346	0.35511	.	.	ENSG00000147885	ENST00000380216	T	0.05382	3.45	2.53	-0.132	0.13489	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.663946	0.13827	N	0.359972	T	0.21267	0.0512	M	0.92738	3.34	0.09310	N	1	P	0.41393	0.748	P	0.55161	0.77	T	0.12167	-1.0558	10	0.72032	D	0.01	.	2.7367	0.05242	0.6383:0.0:0.1388:0.2229	.	38	P05015	IFN16_HUMAN	S	38	ENSP00000369564:L38S	ENSP00000369564:L38S	L	-	2	0	IFNA16	21207192	0.000000	0.05858	0.006000	0.13384	0.232000	0.25224	0.562000	0.23531	-0.151000	0.11176	0.155000	0.16302	TTG		PASS	0.498	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		7	25	7	25	---	---	---	---
ZNF782	158431	broad.mit.edu	37	9	99580443	99580443	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr9:99580443T>C	ENST00000481138.1	-	6	2523	c.1862A>G	c.(1861-1863)aAt>aGt	p.N621S	ZNF782_ENST00000535338.1_Missense_Mutation_p.N489S|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	621					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.N621S(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TCCACATTCATTACATTCATA	0.433																																						uc004awp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1861-1863)AAT>AGT		zinc finger protein 782							120.0	112.0	115.0					9																	99580443		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99580443T>C	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1862A>G	9.37:g.99580443T>C	ENSP00000419397:p.Asn621Ser					ZNF782_uc011lup.1_Missense_Mutation_p.N489S	p.N621S	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	2143	-		Acute lymphoblastic leukemia(62;0.0527)	621			C2H2-type 13.		B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1862A>G	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	t	7.855	0.724789	0.15439	.	.	ENSG00000196597	ENST00000481138;ENST00000535338	T;T	0.07216	3.21;3.21	3.06	-0.604	0.11626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.713992	0.11489	N	0.558968	T	0.02193	0.0068	N	0.01188	-0.97	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46775	-0.9167	10	0.18276	T	0.48	.	3.8719	0.09041	0.0:0.3613:0.205:0.4336	.	621	Q6ZMW2	ZN782_HUMAN	S	621;489	ENSP00000419397:N621S;ENSP00000440624:N489S	ENSP00000419397:N621S	N	-	2	0	ZNF782	98620264	0.000000	0.05858	0.974000	0.42286	0.999000	0.98932	-2.230000	0.01207	-0.128000	0.11641	0.533000	0.62120	AAT		PASS	0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		9	22	9	22	---	---	---	---
TMEM38B	55151	broad.mit.edu	37	9	108467943	108467943	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr9:108467943G>T	ENST00000374692.3	+	2	295	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	TMEM38B_ENST00000374688.1_Missense_Mutation_p.G6C	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	60						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.G60C(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CCACTGTTTTGGTGGAGGAAT	0.418																																						uc004bcu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(178-180)GGT>TGT		transmembrane protein 38B							205.0	186.0	193.0					9																	108467943		2203	4300	6503	SO:0001583	missense	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108467943G>T	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.178G>T	9.37:g.108467943G>T	ENSP00000363824:p.Gly60Cys					TMEM38B_uc010mtn.1_Missense_Mutation_p.G60C	p.G60C	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN			2	295	+			60			Helical; (Potential).		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	c.178G>T	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913879	0.72983	.	.	ENSG00000095209	ENST00000374692;ENST00000434214;ENST00000374688	T;T	0.57595	0.45;0.39	5.61	4.72	0.59763	.	0.104424	0.64402	D	0.000003	T	0.70762	0.3261	M	0.75615	2.305	0.48185	D	0.999609	D	0.89917	1.0	D	0.97110	1.0	T	0.74216	-0.3737	10	0.72032	D	0.01	-10.3522	12.345	0.55116	0.0818:0.0:0.9182:0.0	.	60	Q9NVV0	TM38B_HUMAN	C	60;6;6	ENSP00000363824:G60C;ENSP00000363820:G6C	ENSP00000363820:G6C	G	+	1	0	TMEM38B	107507764	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.574000	0.74014	1.385000	0.46445	-0.140000	0.14226	GGT		PASS	0.418	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		6	64	6	64	---	---	---	---
GDI2	2665	broad.mit.edu	37	10	5836916	5836916	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:5836916C>A	ENST00000380191.4	-	4	610	c.320G>T	c.(319-321)gGg>gTg	p.G107V	GDI2_ENST00000380132.4_Missense_Mutation_p.G111V|GDI2_ENST00000380181.3_Intron	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	107					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)	p.G107V(1)		NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GACAAAGCTCCCTTCAGTCAC	0.373																																						uc001iil.3																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GGG>GTG		GDP dissociation inhibitor 2 isoform 1							87.0	85.0	86.0					10																	5836916		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5836916C>A	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.320G>T	10.37:g.5836916C>A	ENSP00000369538:p.Gly107Val					GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Missense_Mutation_p.G111V	p.G107V	NM_001494	NP_001485	P50395	GDIB_HUMAN			4	611	-			107					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.320G>T	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767118	0.69878	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000456041;ENST00000418688;ENST00000380127	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.84731	0.0745	10	0.72032	D	0.01	-16.6608	17.9501	0.89050	0.0:1.0:0.0:0.0	.	111;107	E7EU23;P50395	.;GDIB_HUMAN	V	107;111;97;71;111	ENSP00000369538:G107V;ENSP00000369475:G111V;ENSP00000401733:G97V;ENSP00000394177:G71V;ENSP00000369470:G111V	ENSP00000369470:G111V	G	-	2	0	GDI2	5876922	1.000000	0.71417	0.998000	0.56505	0.404000	0.30871	7.776000	0.85560	2.342000	0.79632	0.555000	0.69702	GGG		PASS	0.373	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		6	70	6	70	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809717	31809717	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:31809717T>A	ENST00000320985.10	+	7	1564	c.1454T>A	c.(1453-1455)cTt>cAt	p.L485H	ZEB1_ENST00000361642.5_Missense_Mutation_p.L486H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.L469H|ZEB1_ENST00000542815.3_Missense_Mutation_p.L418H|ZEB1_ENST00000560721.2_Missense_Mutation_p.L465H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	485					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L485H(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CCTAGCCAACTTCAAGTTGTT	0.373																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(1453-1455)CTT>CAT		zinc finger E-box binding homeobox 1 isoform b							59.0	62.0	61.0					10																	31809717		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809717T>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1454T>A	10.37:g.31809717T>A	ENSP00000319248:p.Leu485His					ZEB1_uc001ivr.3_Missense_Mutation_p.L267H|ZEB1_uc010qee.1_Missense_Mutation_p.L267H|ZEB1_uc010qef.1_Missense_Mutation_p.L267H|ZEB1_uc009xlj.1_Missense_Mutation_p.L411H|ZEB1_uc010qeg.1_Missense_Mutation_p.L344H|ZEB1_uc009xlk.1_Missense_Mutation_p.L267H|ZEB1_uc001ivt.3_Missense_Mutation_p.L267H|ZEB1_uc001ivu.3_Missense_Mutation_p.L486H|ZEB1_uc001ivv.3_Missense_Mutation_p.L465H|ZEB1_uc010qeh.1_Missense_Mutation_p.L418H|ZEB1_uc009xlo.1_Missense_Mutation_p.L468H|ZEB1_uc009xlp.2_Missense_Mutation_p.L469H	p.L485H	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	1517	+		Prostate(175;0.0156)	485					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1454T>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604124	0.46423	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.45	5.45	0.79879	.	.	.	.	.	D	0.85729	0.5764	L	0.60455	1.87	0.43076	D	0.994723	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.73708	0.973;0.952;0.98;0.921;0.973;0.94;0.981;0.921	D	0.87195	0.2237	9	0.66056	D	0.02	-12.6102	15.8205	0.78638	0.0:0.0:0.0:1.0	.	418;485;469;485;485;465;486;485	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	267;485;486;485;418;485;465;344;376;469	ENSP00000444282:L267H;ENSP00000354487:L486H;ENSP00000444891:L418H;ENSP00000319248:L485H;ENSP00000391612:L469H	ENSP00000319248:L485H	L	+	2	0	ZEB1	31849723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.677000	0.54619	2.201000	0.70794	0.533000	0.62120	CTT		PASS	0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		10	51	10	51	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48429216	48429216	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:48429216G>C	ENST00000224605.2	-	2	935	c.670C>G	c.(670-672)Cag>Gag	p.Q224E		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	224					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.Q224E(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GAATCCAGCTGGGCGGAGAGG	0.697																																						uc001jfb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(670-672)CAG>GAG		growth differentiation factor 10 precursor							10.0	15.0	14.0					10																	48429216		2165	4281	6446	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429216G>C	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.670C>G	10.37:g.48429216G>C	ENSP00000224605:p.Gln224Glu					GDF10_uc009xnp.2_Missense_Mutation_p.Q223E|GDF10_uc009xnq.1_Missense_Mutation_p.Q224E	p.Q224E	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1126	-			224					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.670C>G	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	3.176	-0.169043	0.06461	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.72167	-0.63	5.44	3.51	0.40186	.	0.105144	0.64402	N	0.000005	T	0.47358	0.1441	N	0.12502	0.225	0.33879	D	0.635889	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.49523	-0.8931	10	0.02654	T	1	.	13.6147	0.62101	0.0:0.5594:0.4406:0.0	.	34;224	Q8N6T2;P55107	.;BMP3B_HUMAN	E	34;224	ENSP00000224605:Q224E	ENSP00000224605:Q224E	Q	-	1	0	GDF10	48049222	1.000000	0.71417	0.894000	0.35097	0.916000	0.54674	3.654000	0.54453	1.279000	0.44446	0.555000	0.69702	CAG		PASS	0.697	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		3	4	3	4	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61835767	61835767	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:61835767G>T	ENST00000280772.2	-	37	5063	c.4872C>A	c.(4870-4872)acC>acA	p.T1624T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1624	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T1624T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCACTGGAGAGGTTCGAGAGG	0.478																																						uc001jky.2																			1	Substitution - coding silent(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4870-4872)ACC>ACA		ankyrin 3 isoform 1							63.0	66.0	65.0					10																	61835767		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835767G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4872C>A	10.37:g.61835767G>T						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.T1624T	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5064	-			1624			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4872C>A	CCDS7258.1																																																																																				PASS	0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		5	44	5	44	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64159292	64159292	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:64159292G>T	ENST00000395254.3	+	5	1248	c.968G>T	c.(967-969)cGa>cTa	p.R323L	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.R323L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGTAGAAGCCGAGGGCACCCG	0.483																																						uc001jly.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1012-1014)CGA>CTA		zinc finger protein 365 isoform A							93.0	92.0	92.0					10																	64159292		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159292G>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.968G>T	10.37:g.64159292G>T	ENSP00000378674:p.Arg323Leu					ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.R323L|ZNF365_uc001jma.3_RNA	p.R338L	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN			5	1075	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Missense_Mutation	SNP	ENST00000395254.3	37	c.1013G>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611960	0.66558	.	.	ENSG00000138311	ENST00000395254	T	0.52526	0.66	5.53	5.53	0.82687	.	.	.	.	.	T	0.45975	0.1369	M	0.62723	1.935	0.80722	D	1	P;P	0.47545	0.897;0.897	B;B	0.37144	0.242;0.242	T	0.54125	-0.8340	9	0.54805	T	0.06	.	17.2485	0.87035	0.0:0.0:1.0:0.0	.	323;338	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	L	323	ENSP00000378674:R323L	ENSP00000378674:R323L	R	+	2	0	ZNF365	63829298	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	5.552000	0.67281	2.605000	0.88082	0.650000	0.86243	CGA		PASS	0.483	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		4	84	4	84	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114911628	114911628	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:114911628G>T	ENST00000355995.4	+	10	1653	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.Q382H|TCF7L2_ENST00000543371.1_Missense_Mutation_p.Q382H|TCF7L2_ENST00000369397.4_Missense_Mutation_p.Q359H|TCF7L2_ENST00000369386.1_Missense_Mutation_p.Q25H|TCF7L2_ENST00000352065.5_Missense_Mutation_p.Q359H|TCF7L2_ENST00000542695.1_Missense_Mutation_p.Q98H|TCF7L2_ENST00000545257.1_Missense_Mutation_p.Q382H|TCF7L2_ENST00000534894.1_Missense_Mutation_p.Q382H|TCF7L2_ENST00000355717.4_Missense_Mutation_p.Q406H|TCF7L2_ENST00000536810.1_Missense_Mutation_p.Q382H|TCF7L2_ENST00000369389.1_Missense_Mutation_p.Q93H			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	382	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q382H(1)|p.Q406H(1)|p.Q359H(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCATCAACCAGATCCTTGGGC	0.532			T	VTI1A	colorectal																																	uc001lae.3				Dom	yes		10	10q25.3	6934		transcription factor 7-like 2			E					3	Substitution - Missense(3)		lung(3)	large_intestine(3)|ovary(1)	4						c.(1144-1146)CAG>CAT		transcription factor 7-like 2 isoform 1							62.0	61.0	61.0					10																	114911628		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114911628G>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1146G>T	10.37:g.114911628G>T	ENSP00000348274:p.Gln382His					TCF7L2_uc001lac.3_Missense_Mutation_p.Q359H|TCF7L2_uc010qrk.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrl.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrm.1_Missense_Mutation_p.Q382H|TCF7L2_uc010qrn.1_Missense_Mutation_p.Q325H|TCF7L2_uc001lad.3_Missense_Mutation_p.Q355H|TCF7L2_uc001lag.3_Missense_Mutation_p.Q406H|TCF7L2_uc001laf.3_Missense_Mutation_p.Q359H|TCF7L2_uc010qro.1_Missense_Mutation_p.Q359H|TCF7L2_uc001lah.2_Missense_Mutation_p.Q364H|TCF7L2_uc010qrp.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrq.1_Missense_Mutation_p.Q355H|TCF7L2_uc010qrr.1_Missense_Mutation_p.Q297H|TCF7L2_uc010qrs.1_Missense_Mutation_p.Q253H|TCF7L2_uc010qrt.1_Missense_Mutation_p.Q253H|TCF7L2_uc010qru.1_Missense_Mutation_p.Q281H|TCF7L2_uc010qrv.1_Missense_Mutation_p.Q199H|TCF7L2_uc010qrw.1_Missense_Mutation_p.Q86H|TCF7L2_uc010qrx.1_Missense_Mutation_p.Q239H	p.Q382H	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	10	1653	+		Breast(234;0.058)|Colorectal(252;0.0615)	382			Mediates interaction with MAD2L2.|HMG box.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1146G>T		.	.	.	.	.	.	.	.	.	.	g	15.17	2.753982	0.49362	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.122071	0.56097	D	0.000031	D	0.98639	0.9544	M	0.88775	2.98	0.80722	D	1	D;D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.89917	1.0;0.999;0.053;0.061;0.997;0.231;0.016;0.005;0.015;0.003;0.012;0.203;0.03;0.007;0.004;0.049;0.193;0.025;0.151	D;D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.87578	0.989;0.993;0.078;0.126;0.998;0.25;0.04;0.029;0.045;0.066;0.078;0.111;0.075;0.05;0.012;0.16;0.162;0.036;0.232	D	0.99222	1.0879	10	0.87932	D	0	-14.4303	9.9584	0.41682	0.1265:0.0:0.8735:0.0	.	239;199;281;382;253;297;355;359;359;325;382;359;359;364;406;359;382;355;359	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	382;382;382;382;406;382;382;359;359;98;93;99;25	ENSP00000348274:Q382H;ENSP00000440547:Q382H;ENSP00000444972:Q382H;ENSP00000446238:Q382H;ENSP00000347949:Q406H;ENSP00000446172:Q382H;ENSP00000443626:Q382H;ENSP00000358404:Q359H;ENSP00000344823:Q359H;ENSP00000443883:Q98H;ENSP00000358396:Q93H;ENSP00000277945:Q99H;ENSP00000358393:Q25H	ENSP00000277945:Q99H	Q	+	3	2	TCF7L2	114901618	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.558000	0.53749	2.412000	0.81896	0.655000	0.94253	CAG		PASS	0.532	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		8	50	8	50	---	---	---	---
CLRN3	119467	broad.mit.edu	37	10	129676511	129676511	+	Missense_Mutation	SNP	C	C	A	rs375062907		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:129676511C>A	ENST00000368671.3	-	3	745	c.583G>T	c.(583-585)Gta>Tta	p.V195L		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	195						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V195L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ATGATGGTTACAGTGACTATA	0.453																																						uc001lka.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(583-585)GTA>TTA		clarin 3							212.0	185.0	194.0					10																	129676511		2203	4300	6503	SO:0001583	missense	119467					integral to membrane		g.chr10:129676511C>A	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.583G>T	10.37:g.129676511C>A	ENSP00000357660:p.Val195Leu					CLRN3_uc001ljz.1_Missense_Mutation_p.V127L	p.V195L	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN			3	746	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	195			Helical; (Potential).		Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	37	c.583G>T	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	C	8.539	0.872795	0.17322	.	.	ENSG00000180745	ENST00000368671	T	0.75938	-0.98	4.72	2.83	0.33086	.	0.296117	0.26769	N	0.022588	T	0.64962	0.2646	M	0.64997	1.995	0.09310	N	1	B;B	0.15473	0.013;0.003	B;B	0.17979	0.02;0.005	T	0.47522	-0.9111	10	0.16896	T	0.51	.	6.5414	0.22382	0.0:0.6798:0.149:0.1712	.	195;127	Q8NCR9;Q8NCR9-2	CLRN3_HUMAN;.	L	195	ENSP00000357660:V195L	ENSP00000357660:V195L	V	-	1	0	CLRN3	129566501	0.000000	0.05858	0.783000	0.31826	0.020000	0.10135	-0.191000	0.09601	1.211000	0.43351	-0.142000	0.14014	GTA		PASS	0.453	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		18	99	18	99	---	---	---	---
CFAP46	54777	broad.mit.edu	37	10	134650410	134650410	+	Silent	SNP	T	T	C	rs199657322		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:134650410T>C	ENST00000368586.5	-	45	6547	c.6447A>G	c.(6445-6447)caA>caG	p.Q2149Q	TTC40_ENST00000263170.5_Silent_p.Q310Q	NM_001200049.2	NP_001186978.2												p.Q310Q(1)|p.Q2149Q(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGCAGAGATTTTGCCAAGCCT	0.537																																						uc010qux.1																			2	Substitution - coding silent(2)		lung(2)								c.(5623-5625)CAA>CAG		Homo sapiens cDNA, FLJ17989.							106.0	93.0	97.0					10																	134650410		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:134650410T>C																												ENST00000368586.5:c.6447A>G	10.37:g.134650410T>C							p.Q1875Q	NM_017609	NP_060079					37	5625	-									Silent	SNP	ENST00000368586.5	37	c.5625A>G	CCDS58101.1																																																																																				PASS	0.537	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			10	69	10	69	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1016592	1016592	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:1016592C>A	ENST00000421673.2	-	31	6259	c.6209G>T	c.(6208-6210)gGg>gTg	p.G2070V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2070	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.G2070V(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGCTGGTCCCACTGGTGGT	0.577																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(6208-6210)GGG>GTG		mucin 6, gastric							240.0	259.0	253.0					11																	1016592		2180	4269	6449	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016592C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6209G>T	11.37:g.1016592C>A	ENSP00000406861:p.Gly2070Val						p.G2070V	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6260	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2070			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6209G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319856	0.23994	.	.	ENSG00000184956	ENST00000421673	T	0.18960	2.18	2.46	-2.59	0.06209	.	.	.	.	.	T	0.15392	0.0371	L	0.47716	1.5	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.27157	-1.0082	9	0.33940	T	0.23	.	6.7453	0.23458	0.3034:0.2162:0.4804:0.0	.	2070	Q6W4X9	MUC6_HUMAN	V	2070	ENSP00000406861:G2070V	ENSP00000406861:G2070V	G	-	2	0	MUC6	1006592	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.705000	0.01896	-0.576000	0.05974	-0.676000	0.03789	GGG		PASS	0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	143	9	143	---	---	---	---
KRTAP5-3	387266	broad.mit.edu	37	11	1629296	1629296	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:1629296G>A	ENST00000399685.1	-	1	397	c.320C>T	c.(319-321)tCc>tTc	p.S107F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	107	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.S107F(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GACCCCCTTGGAACCCCCACA	0.662																																						uc001ltw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(319-321)TCC>TTC		keratin associated protein 5-3							49.0	68.0	62.0					11																	1629296		2198	4296	6494	SO:0001583	missense	387266					keratin filament		g.chr11:1629296G>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.320C>T	11.37:g.1629296G>A	ENSP00000382592:p.Ser107Phe						p.S107F	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	398	-		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)	107			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.320C>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	G	2.146	-0.395733	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02848	0.0085	M	0.87547	2.89	0.09310	N	1	P	0.43352	0.804	B	0.41646	0.362	T	0.00398	-1.1764	9	0.87932	D	0	.	13.9928	0.64378	0.0:0.3087:0.6913:0.0	.	107	Q6L8H2	KRA53_HUMAN	F	107	ENSP00000382592:S107F	ENSP00000382592:S107F	S	-	2	0	KRTAP5-3	1585872	0.000000	0.05858	0.400000	0.26346	0.003000	0.03518	-0.807000	0.04520	-1.599000	0.01605	-1.006000	0.02489	TCC		PASS	0.662	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			10	53	10	53	---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129132	6129132	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:6129132C>A	ENST00000316529.3	+	1	219	c.124C>A	c.(124-126)Ctc>Atc	p.L42I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L42I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCTACCTCTTAGCTCT	0.502																																						uc010qzx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(124-126)CTC>ATC		olfactory receptor, family 56, subfamily B,							96.0	86.0	90.0					11																	6129132		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129132C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.124C>A	11.37:g.6129132C>A	ENSP00000321196:p.Leu42Ile						p.L42I	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	124	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	42			Helical; Name=1; (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.124C>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	5.137	0.210799	0.09757	.	.	ENSG00000180919	ENST00000316529	T	0.16457	2.34	4.24	-4.99	0.03010	.	0.000000	0.32028	U	0.006698	T	0.08044	0.0201	L	0.31845	0.965	0.09310	N	1	B	0.23540	0.087	B	0.30782	0.12	T	0.36672	-0.9738	10	0.14656	T	0.56	.	1.4188	0.02307	0.2888:0.3558:0.0947:0.2607	.	42	Q8NH76	O56B4_HUMAN	I	42	ENSP00000321196:L42I	ENSP00000321196:L42I	L	+	1	0	OR56B4	6085708	0.000000	0.05858	0.467000	0.27180	0.506000	0.33950	-6.502000	0.00063	-1.691000	0.01430	-0.797000	0.03246	CTC		PASS	0.502	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		6	42	6	42	---	---	---	---
OR2AG2	338755	broad.mit.edu	37	11	6789336	6789336	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:6789336G>C	ENST00000338569.2	-	1	950	c.853C>G	c.(853-855)Ctg>Gtg	p.L285V		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L285V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGATTCAGGGCTGGAGTG	0.502																																						uc001meq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(853-855)CTG>GTG		olfactory receptor, family 2, subfamily AG,							118.0	113.0	115.0					11																	6789336		2201	4294	6495	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789336G>C	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.853C>G	11.37:g.6789336G>C	ENSP00000342697:p.Leu285Val						p.L285V	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	853	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	285			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.853C>G	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913195	0.33815	.	.	ENSG00000188124	ENST00000338569	T	0.45276	0.9	4.46	0.579	0.17397	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	N	0.001365	T	0.48537	0.1505	L	0.41710	1.295	0.26919	N	0.966726	D	0.89917	1.0	D	0.87578	0.998	T	0.34576	-0.9823	10	0.87932	D	0	.	7.2922	0.26372	0.4636:0.0:0.5364:0.0	.	285	A6NM03	O2AG2_HUMAN	V	285	ENSP00000342697:L285V	ENSP00000342697:L285V	L	-	1	2	OR2AG2	6745912	0.011000	0.17503	0.997000	0.53966	0.651000	0.38670	0.060000	0.14342	0.120000	0.18254	-0.897000	0.02905	CTG		PASS	0.502	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		6	47	6	47	---	---	---	---
STK33	65975	broad.mit.edu	37	11	8414154	8414154	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:8414154C>A	ENST00000447869.1	-	12	2366	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	STK33_ENST00000358872.3_Missense_Mutation_p.G296V|STK33_ENST00000396673.1_Missense_Mutation_p.G417V|STK33_ENST00000534493.1_Missense_Mutation_p.G442V|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.G483V|STK33_ENST00000315204.1_Missense_Mutation_p.G483V			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	483					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G483V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCCATTTCTCCCTTGATTTC	0.448																																						uc001mgi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1447-1449)GGA>GTA		serine/threonine kinase 33							177.0	168.0	171.0					11																	8414154		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8414154C>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1448G>T	11.37:g.8414154C>A	ENSP00000416750:p.Gly483Val					STK33_uc001mgj.1_Missense_Mutation_p.G483V|STK33_uc001mgk.1_Missense_Mutation_p.G483V|STK33_uc010rbn.1_Missense_Mutation_p.G442V|STK33_uc001mgl.3_Missense_Mutation_p.G296V	p.G483V	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	12	2367	-			483					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1448G>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185399	0.38609	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.70516	-0.44;-0.44;-0.44;-0.49;2.03;2.03;-0.43	6.17	-7.28	0.01456	.	1.541510	0.03674	N	0.244499	T	0.49457	0.1558	N	0.22421	0.69	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.28364	-1.0046	10	0.37606	T	0.19	.	4.19	0.10416	0.1007:0.269:0.1039:0.5263	.	483	Q9BYT3	STK33_HUMAN	V	483;483;483;296;417;172;442	ENSP00000416750:G483V;ENSP00000320754:G483V;ENSP00000379905:G483V;ENSP00000351743:G296V;ENSP00000379906:G417V;ENSP00000415688:G172V;ENSP00000436418:G442V	ENSP00000320754:G483V	G	-	2	0	STK33	8370730	0.004000	0.15560	0.000000	0.03702	0.010000	0.07245	-0.632000	0.05489	-1.035000	0.03291	-0.982000	0.02568	GGA		PASS	0.448	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		7	89	7	89	---	---	---	---
ASCL3	56676	broad.mit.edu	37	11	8959439	8959439	+	Nonsense_Mutation	SNP	G	G	T	rs181379245		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:8959439G>T	ENST00000531618.1	-	1	319	c.270C>A	c.(268-270)taC>taA	p.Y90*	ASCL3_ENST00000325884.1_Nonsense_Mutation_p.Y90*			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	89					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.Y90*(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AGGCTGGCCCGTAGGAGTACT	0.542																																						uc001mhd.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(268-270)TAC>TAA		ASCL3							61.0	63.0	62.0					11																	8959439		2201	4295	6496	SO:0001587	stop_gained	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959439G>T	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.270C>A	11.37:g.8959439G>T	ENSP00000435770:p.Tyr90*						p.Y90*	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	330	-			89					Q8WYQ6	Nonsense_Mutation	SNP	ENST00000531618.1	37	c.270C>A	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.866938	0.17250	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	.	.	.	5.72	-4.75	0.03239	.	0.211731	0.41823	D	0.000803	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5737	10.3471	0.43911	0.5905:0.0:0.3204:0.0891	.	.	.	.	X	90	.	ENSP00000318846:Y90X	Y	-	3	2	ASCL3	8916015	0.000000	0.05858	0.923000	0.36655	0.080000	0.17528	-2.580000	0.00907	-0.767000	0.04633	-0.312000	0.09012	TAC		PASS	0.542	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			18	90	18	90	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18956275	18956275	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:18956275C>A	ENST00000302797.3	-	1	281	c.57G>T	c.(55-57)gaG>gaT	p.E19D	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	19					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E19D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAAGAGTCTCCTCAGTTCCGT	0.527																																						uc001mpg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(55-57)GAG>GAT		MAS-related GPR, member X1							262.0	249.0	253.0					11																	18956275		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956275C>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.57G>T	11.37:g.18956275C>A	ENSP00000305766:p.Glu19Asp						p.E19D	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	275	-			19			Extracellular (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.57G>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.861389	0.00552	.	.	ENSG00000170255	ENST00000302797	T	0.20332	2.08	2.3	-4.03	0.04021	.	2.232540	0.01654	N	0.024716	T	0.18509	0.0444	M	0.63428	1.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17198	-1.0377	10	0.12766	T	0.61	.	4.3937	0.11353	0.4116:0.3612:0.2272:0.0	.	19	Q96LB2	MRGX1_HUMAN	D	19	ENSP00000305766:E19D	ENSP00000305766:E19D	E	-	3	2	MRGPRX1	18912851	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.109000	0.01335	-0.600000	0.05790	-0.479000	0.04858	GAG		PASS	0.527	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		10	373	10	373	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43515348	43515348	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:43515348G>T	ENST00000039989.4	+	24	3334	c.3320G>T	c.(3319-3321)tGg>tTg	p.W1107L		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1107					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.W1107L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCACTGGTGTGGTATGAATCC	0.478																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3319-3321)TGG>TTG		tetratricopeptide repeat domain 17							210.0	201.0	204.0					11																	43515348		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43515348G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3320G>T	11.37:g.43515348G>T	ENSP00000039989:p.Trp1107Leu					TTC17_uc010rfj.1_Missense_Mutation_p.W1107L|TTC17_uc001mxl.2_Missense_Mutation_p.W163L|TTC17_uc001mxm.2_Missense_Mutation_p.W88L	p.W1107L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			24	3334	+			1107			TPR 6.		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.3320G>T	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.615|9.615	1.132388|1.132388	0.21041|0.21041	.|.	.|.	ENSG00000052841|ENSG00000052841	ENST00000418561|ENST00000039989	.|T	.|0.61859	.|0.07	5.53|5.53	4.61|4.61	0.57282|0.57282	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51143|0.51143	0.1657|0.1657	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.47484	.|0.896	.|P	.|0.46510	.|0.519	T|T	0.42464|0.42464	-0.9450|-0.9450	5|10	.|0.12766	.|T	.|0.61	-5.9035|-5.9035	14.7076|14.7076	0.69203|0.69203	0.0:0.1447:0.8553:0.0|0.0:0.1447:0.8553:0.0	.|.	.|1107	.|Q96AE7	.|TTC17_HUMAN	C|L	138|1107	.|ENSP00000039989:W1107L	.|ENSP00000039989:W1107L	G|W	+|+	1|2	0|0	TTC17|TTC17	43471924|43471924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.016000|0.016000	0.09150|0.09150	9.476000|9.476000	0.97823|0.97823	1.303000|1.303000	0.44873|0.44873	-0.175000|-0.175000	0.13238|0.13238	GGT|TGG		PASS	0.478	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		8	178	8	178	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47307069	47307069	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:47307069C>A	ENST00000311027.5	+	14	2644	c.2479C>A	c.(2479-2481)Cgg>Agg	p.R827R	MADD_ENST00000407859.3_Silent_p.R784R|MADD_ENST00000342922.4_Silent_p.R827R|MADD_ENST00000402192.2_Silent_p.R827R|MADD_ENST00000349238.3_Silent_p.R827R|MADD_ENST00000395336.3_Silent_p.R827R|MADD_ENST00000402799.1_Silent_p.R784R|MADD_ENST00000395344.3_Silent_p.R784R|MADD_ENST00000406482.1_Silent_p.R784R	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.R827R(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTCAGACTCTCGGGCAAGCTC	0.567																																						uc001ner.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(2479-2481)CGG>AGG		MAP-kinase activating death domain-containing							172.0	161.0	164.0					11																	47307069		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47307069C>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2479C>A	11.37:g.47307069C>A						MADD_uc001neq.2_Silent_p.R827R|MADD_uc001nev.1_Silent_p.R784R|MADD_uc001nes.1_Silent_p.R784R|MADD_uc001net.1_Silent_p.R827R|MADD_uc009yln.1_Silent_p.R784R|MADD_uc001neu.1_Silent_p.R784R|MADD_uc001nex.2_Silent_p.R827R|MADD_uc001nez.2_Silent_p.R784R|MADD_uc001new.2_Silent_p.R827R	p.R827R	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	14	2670	+			827						Silent	SNP	ENST00000311027.5	37	c.2479C>A	CCDS7930.1																																																																																				PASS	0.567	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			7	204	7	204	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798388	55798388	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:55798388G>C	ENST00000313555.1	+	1	494	c.494G>C	c.(493-495)aGg>aCg	p.R165T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTCACATTCAGGCTGTCATTT	0.428																																						uc010riw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(493-495)AGG>ACG		olfactory receptor, family 5, subfamily AS,							262.0	246.0	252.0					11																	55798388		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798388G>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.494G>C	11.37:g.55798388G>C	ENSP00000324111:p.Arg165Thr						p.R165T	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	494	+	Esophageal squamous(21;0.00693)		165			Extracellular (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.494G>C	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	9.201	1.028463	0.19512	.	.	ENSG00000181785	ENST00000313555	T	0.00158	8.65	5.46	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.193479	0.25277	U	0.031826	T	0.00109	0.0003	L	0.33339	1.005	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.42032	-0.9475	10	0.51188	T	0.08	.	2.2968	0.04152	0.1592:0.2725:0.419:0.1494	.	165	Q8N127	O5AS1_HUMAN	T	165	ENSP00000324111:R165T	ENSP00000324111:R165T	R	+	2	0	OR5AS1	55554964	0.000000	0.05858	0.092000	0.20876	0.817000	0.46193	0.018000	0.13422	0.215000	0.20761	0.643000	0.83706	AGG		PASS	0.428	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		6	65	6	65	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861505	55861505	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:55861505C>A	ENST00000302124.2	+	1	753	c.722C>A	c.(721-723)gCa>gAa	p.A241E		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A241E(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCCACCTGCGCATCCCACCTC	0.498																																						uc010rix.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(721-723)GCA>GAA		olfactory receptor, family 8, subfamily I,							151.0	140.0	144.0					11																	55861505		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861505C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.722C>A	11.37:g.55861505C>A	ENSP00000303864:p.Ala241Glu						p.A241E	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	722	+	Esophageal squamous(21;0.00693)		241			Helical; Name=6; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.722C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	8.199	0.797687	0.16327	.	.	ENSG00000172154	ENST00000302124	T	0.41400	1.0	4.33	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.181768	0.26248	U	0.025463	T	0.49983	0.1589	H	0.96398	3.815	0.09310	N	1	B	0.33044	0.395	B	0.29716	0.106	T	0.53676	-0.8405	10	0.72032	D	0.01	-1.5544	5.7348	0.18061	0.0:0.3544:0.3943:0.2513	.	241	Q8N0Y5	OR8I2_HUMAN	E	241	ENSP00000303864:A241E	ENSP00000303864:A241E	A	+	2	0	OR8I2	55618081	0.000000	0.05858	0.104000	0.21259	0.016000	0.09150	-0.772000	0.04694	0.047000	0.15862	-0.423000	0.05987	GCA		PASS	0.498	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	29	4	29	---	---	---	---
OR10V1	390201	broad.mit.edu	37	11	59481101	59481101	+	Missense_Mutation	SNP	T	T	C	rs371214317		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:59481101T>C	ENST00000307552.2	-	1	236	c.218A>G	c.(217-219)tAt>tGt	p.Y73C	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y73C(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GGAAGATGTATAGAAGATTTC	0.453																																						uc001nof.1																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)TAT>TGT		olfactory receptor, family 10, subfamily V,		T	CYS/TYR	3,4399	6.2+/-15.9	0,3,2198	62.0	66.0	65.0		218	4.4	1.0	11		65	0,8590		0,0,4295	no	missense	OR10V1	NM_001005324.1	194	0,3,6493	CC,CT,TT		0.0,0.0682,0.0231	probably-damaging	73/310	59481101	3,12989	2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59481101T>C	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.218A>G	11.37:g.59481101T>C	ENSP00000302199:p.Tyr73Cys						p.Y73C	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	218	-			73			Helical; Name=2; (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.218A>G	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586038	0.46110	6.82E-4	0.0	ENSG00000172289	ENST00000307552	T	0.00441	7.41	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000209	T	0.01029	0.0034	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70872	-0.4754	10	0.87932	D	0	.	11.9888	0.53163	0.0:0.0:0.0:1.0	.	73	Q8NGI7	O10V1_HUMAN	C	73	ENSP00000302199:Y73C	ENSP00000302199:Y73C	Y	-	2	0	OR10V1	59237677	0.006000	0.16342	0.997000	0.53966	0.909000	0.53808	0.022000	0.13511	1.986000	0.57962	0.444000	0.29173	TAT		PASS	0.453	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		6	36	6	36	---	---	---	---
MS4A7	58475	broad.mit.edu	37	11	60160167	60160167	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:60160167G>T	ENST00000300184.3	+	6	752	c.556G>T	c.(556-558)Gtg>Ttg	p.V186L	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.V141L|MS4A7_ENST00000534016.1_Missense_Mutation_p.V141L|MS4A7_ENST00000530234.2_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	186						integral component of membrane (GO:0016021)		p.V186L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGGTGTCCTAGTGGTGATGCT	0.512																																						uc001npe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(556-558)GTG>TTG		membrane-spanning 4-domains, subfamily A, member							405.0	312.0	343.0					11																	60160167		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60160167G>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.556G>T	11.37:g.60160167G>T	ENSP00000300184:p.Val186Leu					MS4A7_uc001npf.2_Missense_Mutation_p.V186L|MS4A7_uc001npg.2_Missense_Mutation_p.V141L|MS4A7_uc001nph.2_Missense_Mutation_p.V141L|MS4A14_uc001npi.2_Intron	p.V186L	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			6	701	+			186			Helical; (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.556G>T	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078214	0.36662	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31	3.45	-1.09	0.09904	.	1.028330	0.07829	U	0.961133	T	0.02156	0.0067	L	0.35288	1.05	0.09310	N	1	B;B	0.15930	0.011;0.015	B;B	0.17979	0.02;0.018	T	0.50189	-0.8857	10	0.15066	T	0.55	-16.4948	2.359	0.04302	0.1133:0.3602:0.3426:0.1839	.	141;186	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	L	186;141;141;141;122	ENSP00000300184:V186L;ENSP00000350983:V141L;ENSP00000434637:V141L;ENSP00000433861:V141L;ENSP00000434819:V122L	ENSP00000300184:V186L	V	+	1	0	MS4A7	59916743	0.026000	0.19158	0.008000	0.14137	0.743000	0.42351	-0.187000	0.09656	-0.187000	0.10516	0.467000	0.42956	GTG		PASS	0.512	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			24	83	24	83	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61083759	61083759	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:61083759G>T	ENST00000301764.7	-	12	1805	c.1408C>A	c.(1408-1410)Cag>Aag	p.Q470K	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	470	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.Q470K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTTATCACCTGGATAAGCTGC	0.438								Nucleotide excision repair (NER)																														uc001nrc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1408-1410)CAG>AAG	NER	damage-specific DNA binding protein 1							198.0	186.0	190.0					11																	61083759		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61083759G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1408C>A	11.37:g.61083759G>T	ENSP00000301764:p.Gln470Lys					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.Q470K|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.Q470K	p.Q470K	NM_001923	NP_001914	Q16531	DDB1_HUMAN			12	1634	-			470			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.1408C>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387189	0.95988	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739;ENST00000535174	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90091	0.4177	10	0.87932	D	0	-19.5958	19.5261	0.95208	0.0:0.0:1.0:0.0	.	470;470	B7Z2A1;Q16531	.;DDB1_HUMAN	K	470;34;121;189;253	ENSP00000301764:Q470K;ENSP00000442732:Q34K;ENSP00000437713:Q121K;ENSP00000445563:Q189K;ENSP00000446044:Q253K	ENSP00000301764:Q470K	Q	-	1	0	DDB1	60840335	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.842000	0.99487	2.632000	0.89209	0.655000	0.94253	CAG		PASS	0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		10	295	10	295	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	66947553	66947553	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:66947553G>T	ENST00000529006.2	+	3	492	c.46G>T	c.(46-48)Ggt>Tgt	p.G16C	KDM2A_ENST00000398645.2_Missense_Mutation_p.G16C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	16					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.G16C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTCCTAGCGTGGTACCATGCG	0.398																																						uc001ojw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(46-48)GGT>TGT		F-box and leucine-rich repeat protein 11							91.0	87.0	88.0					11																	66947553		1934	4127	6061	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66947553G>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.46G>T	11.37:g.66947553G>T	ENSP00000432786:p.Gly16Cys					KDM2A_uc001ojx.2_RNA	p.G16C	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			3	910	+			16					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.46G>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796344	0.70567	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.44881	0.91;2.23	5.55	5.55	0.83447	.	0.317843	0.29892	N	0.010934	T	0.38983	0.1061	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.58820	0.846	T	0.38993	-0.9635	10	0.62326	D	0.03	-17.654	12.5426	0.56179	0.0:0.1668:0.8332:0.0	.	16	Q9Y2K7	KDM2A_HUMAN	C	16	ENSP00000381640:G16C;ENSP00000432786:G16C	ENSP00000381640:G16C	G	+	1	0	KDM2A	66704129	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.060000	0.49955	2.894000	0.99253	0.655000	0.94253	GGT		PASS	0.398	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		5	54	5	54	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117307860	117307860	+	Silent	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:117307860G>A	ENST00000321322.6	-	26	4879	c.4878C>T	c.(4876-4878)ttC>ttT	p.F1626F	DSCAML1_ENST00000527706.1_Silent_p.F1356F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1566					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.F1626F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAGGGTGGCGAACTGGGCTG	0.617																																						uc001prh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(4876-4878)TTC>TTT		Down syndrome cell adhesion molecule like 1							77.0	71.0	73.0					11																	117307860		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307860G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4878C>T	11.37:g.117307860G>A							p.F1626F	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4880	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1566			Extracellular (Potential).|Fibronectin type-III 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.4878C>T	CCDS8384.1																																																																																				PASS	0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		13	58	13	58	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118769284	118769284	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:118769284C>A	ENST00000334801.3	-	8	5304	c.4340G>T	c.(4339-4341)aGc>aTc	p.S1447I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1447					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.S1447I(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGCGGCTGGCTGTAGACCTC	0.672																																						uc001pug.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4339-4341)AGC>ATC		B-cell CLL/lymphoma 9-like							15.0	17.0	16.0					11																	118769284		2193	4284	6477	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769284C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4340G>T	11.37:g.118769284C>A	ENSP00000335320:p.Ser1447Ile					BCL9L_uc009zal.2_Missense_Mutation_p.S1442I	p.S1447I	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	5305	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1447					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.4340G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786503	0.31593	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000431085	T	0.65549	-0.16	4.23	2.08	0.27032	.	0.658399	0.13255	N	0.401760	T	0.51584	0.1683	L	0.34521	1.04	0.21290	N	0.999738	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.003	T	0.50457	-0.8826	10	0.56958	D	0.05	-4.3763	13.3505	0.60599	0.0:0.3825:0.6175:0.0	.	1442;1447	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	I	1447;1410;693;1402	ENSP00000335320:S1447I	ENSP00000335320:S1447I	S	-	2	0	BCL9L	118274494	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.873000	0.39558	0.844000	0.35094	0.305000	0.20034	AGC		PASS	0.672	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		3	9	3	9	---	---	---	---
UBASH3B	84959	broad.mit.edu	37	11	122653771	122653771	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:122653771G>T	ENST00000284273.5	+	5	987	c.612G>T	c.(610-612)gtG>gtT	p.V204V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	204					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.V204V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AAGTGCATGTGGAACCTCATA	0.463																																						uc001pyi.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(610-612)GTG>GTT		ubiquitin associated and SH3 domain containing,							250.0	255.0	253.0					11																	122653771		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122653771G>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.612G>T	11.37:g.122653771G>T							p.V204V	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	5	972	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	204					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.612G>T	CCDS31694.1																																																																																				PASS	0.463	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		9	280	9	280	---	---	---	---
GRAMD1B	57476	broad.mit.edu	37	11	123489412	123489412	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:123489412T>C	ENST00000529750.1	+	18	2240	c.1913T>C	c.(1912-1914)cTg>cCg	p.L638P	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.L638P|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.L325P|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.L645P	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	638						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L638P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CTGGTGCTGCTGGTCATCCTT	0.522																																						uc001pyx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1912-1914)CTG>CCG		GRAM domain containing 1B							48.0	50.0	50.0					11																	123489412		2044	4203	6247	SO:0001583	missense	57476					integral to membrane		g.chr11:123489412T>C	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1913T>C	11.37:g.123489412T>C	ENSP00000436500:p.Leu638Pro					GRAMD1B_uc001pyw.2_Missense_Mutation_p.L645P|GRAMD1B_uc010rzw.1_Missense_Mutation_p.L594P|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L598P|GRAMD1B_uc001pyy.2_Missense_Mutation_p.L325P	p.L638P	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	18	2242	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	638			Helical; (Potential).		Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.1913T>C	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376205	0.82682	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.61859	0.28;0.07;0.26;0.07;1.37	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000003	T	0.75398	0.3844	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.79112	-0.1937	10	0.87932	D	0	.	14.6412	0.68726	0.0:0.0:0.0:1.0	.	594;325;638;645	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	P	645;645;638;638;598;325	ENSP00000402457:L645P;ENSP00000325628:L638P;ENSP00000436500:L638P;ENSP00000432987:L598P;ENSP00000388458:L325P	ENSP00000325628:L638P	L	+	2	0	GRAMD1B	122994622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.020000	0.88740	1.938000	0.56188	0.374000	0.22700	CTG		PASS	0.522	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		5	17	5	17	---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676931	123676931	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:123676931T>C	ENST00000309154.2	-	1	164	c.127A>G	c.(127-129)Atc>Gtc	p.I43V		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I43V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGGGAGATGATGGTGATGTTT	0.418																																						uc010rzz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(127-129)ATC>GTC		olfactory receptor, family 6, subfamily M,							156.0	135.0	142.0					11																	123676931		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676931T>C	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.127A>G	11.37:g.123676931T>C	ENSP00000311038:p.Ile43Val						p.I43V	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	127	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	43			Helical; Name=1; (Potential).		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.127A>G	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	T	9.035	0.988247	0.18966	.	.	ENSG00000196099	ENST00000309154	T	0.00512	6.89	3.69	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33895	U	0.004446	T	0.00936	0.0031	M	0.74389	2.26	0.09310	N	1	D	0.60575	0.988	P	0.54401	0.751	T	0.43782	-0.9370	10	0.87932	D	0	.	7.3428	0.26646	0.0:0.1144:0.0:0.8856	.	43	Q8NGM8	OR6M1_HUMAN	V	43	ENSP00000311038:I43V	ENSP00000311038:I43V	I	-	1	0	OR6M1	123182141	0.002000	0.14202	0.505000	0.27651	0.030000	0.12068	0.523000	0.22925	1.525000	0.49052	0.519000	0.50382	ATC		PASS	0.418	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		10	65	10	65	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294684	124294684	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:124294684G>T	ENST00000356130.3	-	1	105	c.84C>A	c.(82-84)ttC>ttA	p.F28L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28L(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAATAGAAGGAAAAGAGGGA	0.468																																						uc010sak.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)TTC>TTA		olfactory receptor, family 8, subfamily B,							56.0	55.0	56.0					11																	124294684		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294684G>T	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.84C>A	11.37:g.124294684G>T	ENSP00000348449:p.Phe28Leu						p.F28L	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	84	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	28			Helical; Name=1; (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.84C>A	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	5.986	0.365890	0.11352	.	.	ENSG00000198657	ENST00000356130	T	0.04454	3.62	4.62	2.66	0.31614	.	0.000000	0.56097	D	0.000032	T	0.06917	0.0176	M	0.69523	2.12	0.23920	N	0.996464	B	0.28667	0.219	B	0.27076	0.076	T	0.20874	-1.0262	10	0.59425	D	0.04	.	7.3123	0.26481	0.3728:0.0:0.6272:0.0	.	28	Q96RC9	OR8B4_HUMAN	L	28	ENSP00000348449:F28L	ENSP00000348449:F28L	F	-	3	2	OR8B4	123799894	0.050000	0.20438	0.069000	0.20011	0.032000	0.12392	0.125000	0.15749	0.619000	0.30197	-0.137000	0.14449	TTC		PASS	0.468	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		14	48	14	48	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310527	124310527	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:124310527C>T	ENST00000328064.2	-	1	527	c.455G>A	c.(454-456)gGg>gAg	p.G152E		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	152					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CCCAGCAAACCCCATCCCATA	0.522																																						uc010sal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)GGG>GAG		olfactory receptor, family 8, subfamily B,							109.0	98.0	102.0					11																	124310527		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310527C>T	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.455G>A	11.37:g.124310527C>T	ENSP00000330280:p.Gly152Glu						p.G152E	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	455	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	152			Helical; Name=4; (Potential).		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.455G>A	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033509	0.54896	.	.	ENSG00000197125	ENST00000328064	T	0.40756	1.02	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000129	T	0.73297	0.3569	H	0.97516	4.02	0.33998	D	0.649938	D	0.89917	1.0	D	0.97110	1.0	D	0.84343	0.0528	10	0.87932	D	0	.	9.8155	0.40849	0.0:0.9008:0.0:0.0991	.	152	Q15620	OR8B8_HUMAN	E	152	ENSP00000330280:G152E	ENSP00000330280:G152E	G	-	2	0	OR8B8	123815737	0.000000	0.05858	1.000000	0.80357	0.929000	0.56500	0.264000	0.18497	2.257000	0.74773	0.557000	0.71058	GGG		PASS	0.522	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		10	82	10	82	---	---	---	---
KIRREL3	84623	broad.mit.edu	37	11	126333056	126333056	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:126333056G>T	ENST00000525144.2	-	6	987	c.738C>A	c.(736-738)atC>atA	p.I246I	KIRREL3_ENST00000525704.2_Silent_p.I246I|KIRREL3_ENST00000529097.2_Silent_p.I246I	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	246					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I246I(2)|p.I205I(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ACTCACGCTGGATGTCAATGG	0.607																																						uc001qea.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)	3						c.(736-738)ATC>ATA		kin of IRRE like 3 isoform 1							90.0	94.0	92.0					11																	126333056		2142	4239	6381	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126333056G>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.738C>A	11.37:g.126333056G>T						KIRREL3_uc001qeb.2_Silent_p.I246I|KIRREL3_uc001qec.1_Silent_p.I246I	p.I246I	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	6	1099	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	246			Extracellular (Potential).		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.738C>A	CCDS53723.1																																																																																				PASS	0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		6	21	6	21	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132177606	132177606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr11:132177606G>T	ENST00000374786.1	+	4	1029	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	NTM_ENST00000427481.2_Nonsense_Mutation_p.E175*|NTM_ENST00000425719.2_Nonsense_Mutation_p.E184*|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Nonsense_Mutation_p.E184*|NTM_ENST00000374784.1_Nonsense_Mutation_p.E184*|NTM_ENST00000374791.3_Nonsense_Mutation_p.E184*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	184	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E184K(2)|p.E184*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGTGAAGACGAATACTTGGA	0.493																																						uc001qgp.2																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		large_intestine(2)|lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(550-552)GAA>TAA		neurotrimin isoform 1							100.0	93.0	95.0					11																	132177606		2201	4297	6498	SO:0001587	stop_gained	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177606G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.550G>T	11.37:g.132177606G>T	ENSP00000363918:p.Glu184*					NTM_uc001qgm.2_Nonsense_Mutation_p.E184*|NTM_uc010sch.1_Nonsense_Mutation_p.E175*|NTM_uc010sci.1_Nonsense_Mutation_p.E184*|NTM_uc010scj.1_Nonsense_Mutation_p.E143*|NTM_uc001qgo.2_Nonsense_Mutation_p.E184*|NTM_uc001qgq.2_Nonsense_Mutation_p.E184*|NTM_uc001qgr.2_5'UTR	p.E184*	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			4	1214	+			184			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Nonsense_Mutation	SNP	ENST00000374786.1	37	c.550G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176897	0.78564	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.62	5.62	0.85841	.	0.090416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.1021	20.0185	0.97487	0.0:0.0:1.0:0.0	.	.	.	.	X	184;184;175;175;184;184;184	.	ENSP00000363916:E184X	E	+	1	0	NTM	131682816	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.180000	0.71981	2.809000	0.96659	0.467000	0.42956	GAA		PASS	0.493	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		4	57	4	57	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2062441	2062441	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:2062441T>G	ENST00000280665.6	-	7	744	c.665A>C	c.(664-666)gAa>gCa	p.E222A	DCP1B_ENST00000397173.4_Missense_Mutation_p.E120A|DCP1B_ENST00000540622.1_Missense_Mutation_p.E96A|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	222					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.E222A(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GTGTTGGGGTTCAGGGTCTAA	0.438																																						uc001qjx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(664-666)GAA>GCA		decapping enzyme Dcp1b							50.0	54.0	53.0					12																	2062441		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062441T>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.665A>C	12.37:g.2062441T>G	ENSP00000280665:p.Glu222Ala					DCP1B_uc010sdy.1_Missense_Mutation_p.E120A	p.E222A	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	745	-			222					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.665A>C	CCDS31727.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.82|11.82	1.753834|1.753834	0.31046|0.31046	.|.	.|.	ENSG00000151065|ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622|ENST00000541700	T;T;T|.	0.24151|.	2.08;2.09;1.87|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.118916|.	0.56097|.	D|.	0.000036|.	T|.	0.71484|.	0.3345|.	M|M	0.67953|0.67953	2.075|2.075	0.44201|0.44201	D|D	0.997025|0.997025	D;D|.	0.76494|.	0.999;0.997|.	D;P|.	0.78314|.	0.991;0.908|.	T|.	0.71702|.	-0.4513|.	10|.	0.25751|.	T|.	0.34|.	-24.6093|-24.6093	13.9095|13.9095	0.63857|0.63857	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	120;222|.	B4DRD1;Q8IZD4|.	.;DCP1B_HUMAN|.	A|C	222;120;96|138	ENSP00000280665:E222A;ENSP00000380358:E120A;ENSP00000444374:E96A|.	ENSP00000280665:E222A|.	E|X	-|-	2|3	0|0	DCP1B|DCP1B	1932702|1932702	1.000000|1.000000	0.71417|0.71417	0.837000|0.837000	0.33122|0.33122	0.644000|0.644000	0.38419|0.38419	5.606000|5.606000	0.67641|0.67641	2.070000|2.070000	0.61991|0.61991	0.528000|0.528000	0.53228|0.53228	GAA|TGA		PASS	0.438	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		6	46	6	46	---	---	---	---
NDUFA9	4704	broad.mit.edu	37	12	4791398	4791398	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:4791398G>T	ENST00000266544.5	+	9	848	c.828G>T	c.(826-828)ctG>ctT	p.L276L	RP11-234B24.6_ENST00000544741.2_Silent_p.L35L|NDUFA9_ENST00000540688.1_5'Flank	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	276					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.L276L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TTTTCCACCTGGTGAAGTACA	0.418																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(826-828)CTG>CTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						270.0	237.0	249.0					12																	4791398		2203	4300	6503	SO:0001819	synonymous_variant	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4791398G>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.828G>T	12.37:g.4791398G>T						NDUFA9_uc010ses.1_Silent_p.L57L	p.L276L	NM_005002	NP_004993	Q16795	NDUA9_HUMAN			9	838	+			276					Q14076|Q2NKX0	Silent	SNP	ENST00000266544.5	37	c.828G>T	CCDS8532.1																																																																																				PASS	0.418	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		5	54	5	54	---	---	---	---
PRB3	5544	broad.mit.edu	37	12	11420857	11420857	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:11420857T>A	ENST00000279573.7	-	3	461	c.326A>T	c.(325-327)cAg>cTg	p.Q109L	PRB3_ENST00000381842.3_Missense_Mutation_p.Q109L|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.Q109L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	109	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.Q109L(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			ACCTTGGGACTGGTTTCCTCC	0.627																																						uc001qzs.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(325-327)CAG>CTG		proline-rich protein BstNI subfamily 3							125.0	154.0	144.0					12																	11420857		2006	4178	6184	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420857T>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.326A>T	12.37:g.11420857T>A	ENSP00000279573:p.Gln109Leu					PRB4_uc001qzf.1_Intron	p.Q109L	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	364	-			109			10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.326A>T		.	.	.	.	.	.	.	.	.	.	.	5.942	0.357805	0.11239	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.07021	3.36;3.23	0.52	-1.04	0.10068	.	2.937810	0.03584	U	0.230745	T	0.05593	0.0147	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.37361	-0.9709	9	0.32370	T	0.25	.	4.1929	0.10430	0.0:0.2726:0.0:0.7274	.	109	Q04118	PRB3_HUMAN	L	109	ENSP00000371264:Q109L;ENSP00000442626:Q109L	ENSP00000279573:Q109L	Q	-	2	0	PRB3	11312124	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.195000	0.09546	-0.457000	0.07033	0.113000	0.15668	CAG		PASS	0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		28	160	28	160	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14766078	14766078	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:14766078G>T	ENST00000261170.3	-	27	3331	c.3195C>A	c.(3193-3195)acC>acA	p.T1065T	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1065					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.T1065T(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCTTGTCTGTGGTATTCAGCT	0.438																																						uc001rcd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(3193-3195)ACC>ACA		guanylate cyclase 2C precursor							213.0	208.0	210.0					12																	14766078		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14766078G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3195C>A	12.37:g.14766078G>T							p.T1065T	NM_004963	NP_004954	P25092	GUC2C_HUMAN			27	3332	-			1065			Cytoplasmic (Potential).		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.3195C>A	CCDS8664.1																																																																																				PASS	0.438	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			5	73	5	73	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15733040	15733040	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:15733040C>A	ENST00000281171.4	+	21	3318	c.2988C>A	c.(2986-2988)aaC>aaA	p.N996K	PTPRO_ENST00000544244.1_Missense_Mutation_p.N157K|PTPRO_ENST00000542557.1_Missense_Mutation_p.N157K|PTPRO_ENST00000445537.2_Missense_Mutation_p.N185K|PTPRO_ENST00000348962.2_Missense_Mutation_p.N968K|PTPRO_ENST00000442921.2_Missense_Mutation_p.N185K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	996	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.N996K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCAATGCCAACTATATTCCTG	0.378																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2986-2988)AAC>AAA		receptor-type protein tyrosine phosphatase O							54.0	56.0	56.0					12																	15733040		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15733040C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2988C>A	12.37:g.15733040C>A	ENSP00000281171:p.Asn996Lys					PTPRO_uc001rcw.1_Missense_Mutation_p.N968K|PTPRO_uc001rcx.1_Missense_Mutation_p.N185K|PTPRO_uc001rcy.1_Missense_Mutation_p.N185K|PTPRO_uc001rcz.1_Missense_Mutation_p.N157K|PTPRO_uc001rda.1_Missense_Mutation_p.N157K	p.N996K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			21	3162	+		Hepatocellular(102;0.244)	996			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2988C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513884	0.64522	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	4.5	2.63	0.31362	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.56097	D	0.000029	T	0.44664	0.1304	H	0.95151	3.63	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.999;1.0	T	0.47923	-0.9079	10	0.87932	D	0	.	7.8292	0.29332	0.0:0.6714:0.0:0.3286	.	157;968;996	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	K	996;968;185;157;185;157	ENSP00000281171:N996K;ENSP00000343434:N968K;ENSP00000404188:N185K;ENSP00000437571:N157K;ENSP00000393449:N185K;ENSP00000439234:N157K	ENSP00000281171:N996K	N	+	3	2	PTPRO	15624307	0.781000	0.28676	1.000000	0.80357	0.983000	0.72400	-0.054000	0.11826	0.604000	0.29930	0.655000	0.94253	AAC		PASS	0.378	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			6	20	6	20	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32138230	32138230	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:32138230G>T	ENST00000312561.4	+	4	4755	c.4341G>T	c.(4339-4341)aaG>aaT	p.K1447N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1447								p.K1447N(1)									TAACTCCTAAGGAGTATTTAC	0.353																																						uc001rks.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4339-4341)AAG>AAT		hypothetical protein LOC55196							66.0	75.0	72.0					12																	32138230		2203	4298	6501	SO:0001583	missense	55196							g.chr12:32138230G>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4341G>T	12.37:g.32138230G>T	ENSP00000310338:p.Lys1447Asn					C12orf35_uc001rkt.2_5'Flank	p.K1447N	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4755	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1447					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4341G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970417	0.53614	.	.	ENSG00000174718	ENST00000312561	T	0.15603	2.41	5.06	2.82	0.32997	.	0.770342	0.11833	N	0.525078	T	0.24851	0.0603	M	0.63428	1.95	0.26923	N	0.966624	P	0.48016	0.904	P	0.49887	0.625	T	0.07309	-1.0779	9	.	.	.	.	7.2293	0.26033	0.3057:0.0:0.6943:0.0	.	1447	Q9HCM1	CL035_HUMAN	N	1447	ENSP00000310338:K1447N	.	K	+	3	2	C12orf35	32029497	0.765000	0.28485	0.928000	0.36995	0.447000	0.32167	-0.020000	0.12525	1.250000	0.43966	0.557000	0.71058	AAG		PASS	0.353	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		7	71	7	71	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45568068	45568068	+	RNA	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:45568068G>T	ENST00000256692.5	-	0	617					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.S27S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCAGAATTGGACACACCAG	0.408																																						uc001rom.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)TCC>TCA		pleckstrin homology domain containing, family A							215.0	209.0	211.0					12																	45568068		2203	4300	6503			51054							g.chr12:45568068G>T	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568068G>T						PLEKHA9_uc009zke.2_Silent_p.S27S	p.S27S	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	618	-	Lung SC(27;0.192)|Renal(347;0.236)								Silent	SNP	ENST00000256692.5	37	c.81C>A																																																																																					PASS	0.408	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		7	179	7	179	---	---	---	---
ASB8	140461	broad.mit.edu	37	12	48547277	48547277	+	Start_Codon_SNP	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:48547277C>A	ENST00000317697.3	-	2	172	c.3G>T	c.(1-3)atG>atT	p.M1I	ASB8_ENST00000535055.1_Start_Codon_SNP_p.M1I|ASB8_ENST00000535988.1_Start_Codon_SNP_p.M1I|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000540782.1_Start_Codon_SNP_p.M1I|ASB8_ENST00000536953.1_Start_Codon_SNP_p.M1I|ASB8_ENST00000539528.1_Start_Codon_SNP_p.M1I|ASB8_ENST00000536549.1_Start_Codon_SNP_p.M1I|ASB8_ENST00000536071.1_Start_Codon_SNP_p.M1I	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	1					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.M1I(1)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TACTGGAACTCATCAAGGCTC	0.448																																						uc001rrh.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1-3)ATG>ATT		ankyrin repeat and SOCS box-containing 8							91.0	87.0	88.0					12																	48547277		2203	4300	6503	SO:0001582	initiator_codon_variant	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48547277C>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.3G>T	12.37:g.48547277C>A	ENSP00000320893:p.Met1Ile					ASB8_uc010slr.1_5'UTR	p.M1I	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			2	172	-			1					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.3G>T	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693303	0.48202	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000536953;ENST00000539528;ENST00000535055;ENST00000536071;ENST00000539503;ENST00000545791;ENST00000540212;ENST00000540782;ENST00000535988;ENST00000548228	T;T;T;T;T	0.52754	1.11;1.11;0.79;0.65;0.65	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	.	.	.	0.20563	N	0.99989	B	0.30211	0.273	B	0.29785	0.107	T	0.46133	-0.9213	9	0.62326	D	0.03	-5.42	16.3426	0.83092	0.0:1.0:0.0:0.0	.	1	Q9H765	ASB8_HUMAN	I	1	ENSP00000320893:M1I;ENSP00000445622:M1I;ENSP00000444093:M1I;ENSP00000437769:M1I;ENSP00000442639:M1I	ENSP00000320893:M1I	M	-	3	0	ASB8	46833544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.429000	0.73387	2.671000	0.90904	0.650000	0.86243	ATG		PASS	0.448	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1		Missense_Mutation	5	51	5	51	---	---	---	---
GRASP	160622	broad.mit.edu	37	12	52404685	52404685	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:52404685A>T	ENST00000293662.4	+	3	397	c.317A>T	c.(316-318)aAg>aTg	p.K106M	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_De_novo_Start_OutOfFrame|GRASP_ENST00000380039.2_5'Flank	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	106	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.K106M(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACGTTGGAGAAGGAGGATAAC	0.532																																						uc001rzo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(316-318)AAG>ATG		GRP1 (general receptor for phosphoinositides							180.0	168.0	172.0					12																	52404685		2203	4300	6503	SO:0001583	missense	160622					cell junction|perinuclear region of cytoplasm|postsynaptic membrane		g.chr12:52404685A>T	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.317A>T	12.37:g.52404685A>T	ENSP00000293662:p.Lys106Met					GRASP_uc001rzp.1_Translation_Start_Site	p.K106M	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	373	+			106			PDZ.		Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	c.317A>T	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570502	0.86542	.	.	ENSG00000161835	ENST00000293662	T	0.23950	1.88	4.91	4.91	0.64330	PDZ/DHR/GLGF (3);	0.103830	0.64402	D	0.000005	T	0.53753	0.1816	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61033	-0.7144	10	0.87932	D	0	-0.2942	12.151	0.54050	1.0:0.0:0.0:0.0	.	106	Q7Z6J2	GRASP_HUMAN	M	106	ENSP00000293662:K106M	ENSP00000293662:K106M	K	+	2	0	GRASP	50690952	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.327000	0.79147	2.061000	0.61500	0.459000	0.35465	AAG		PASS	0.532	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			26	161	26	161	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56330863	56330863	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:56330863G>A	ENST00000331886.5	+	3	581	c.127G>A	c.(127-129)Gtc>Atc	p.V43I	DGKA_ENST00000394147.1_Missense_Mutation_p.V43I|DGKA_ENST00000551156.1_Missense_Mutation_p.V43I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	43					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.V43I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GGCTAAATATGTCCAAGGAGA	0.448																																						uc001sij.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(127-129)GTC>ATC		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						179.0	166.0	170.0					12																	56330863		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56330863G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.127G>A	12.37:g.56330863G>A	ENSP00000328405:p.Val43Ile					DGKA_uc009zoc.1_Missense_Mutation_p.V43I|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Intron|DGKA_uc009zoe.1_Missense_Mutation_p.V43I|DGKA_uc001sik.2_Missense_Mutation_p.V43I|DGKA_uc001sil.2_Missense_Mutation_p.V43I|DGKA_uc001sim.2_Missense_Mutation_p.V43I|DGKA_uc001sin.2_Missense_Mutation_p.V43I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	p.V43I	NM_001345	NP_001336	P23743	DGKA_HUMAN			3	391	+			43					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.127G>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	5.672	0.308513	0.10733	.	.	ENSG00000065357	ENST00000546878;ENST00000331886;ENST00000555090;ENST00000549368;ENST00000555025;ENST00000394147;ENST00000551156;ENST00000553783;ENST00000557080;ENST00000432422;ENST00000556001;ENST00000551707	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.56	-4.46	0.03536	.	0.994717	0.08156	N	0.989191	T	0.13543	0.0328	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.11329	0.001;0.006;0.002	T	0.26189	-1.0110	10	0.21540	T	0.41	.	6.321	0.21217	0.1086:0.1682:0.5687:0.1545	.	43;43;43	Q3ZE25;B4E0C6;P23743	.;.;DGKA_HUMAN	I	43	ENSP00000446515:V43I;ENSP00000328405:V43I;ENSP00000452353:V43I;ENSP00000447050:V43I;ENSP00000450608:V43I;ENSP00000377703:V43I;ENSP00000450359:V43I;ENSP00000450999:V43I;ENSP00000451814:V43I;ENSP00000402307:V43I;ENSP00000451266:V43I;ENSP00000447460:V43I	ENSP00000328405:V43I	V	+	1	0	DGKA	54617130	0.843000	0.29541	0.020000	0.16555	0.433000	0.31745	-0.424000	0.07025	-1.073000	0.03137	-0.344000	0.07964	GTC		PASS	0.448	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			27	86	27	86	---	---	---	---
ATP5B	506	broad.mit.edu	37	12	57039026	57039026	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:57039026G>T	ENST00000262030.3	-	2	289	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.P80Q|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	80					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.P80Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGAATTGGTGGTAGTCCCTC	0.557																																						uc001slr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)CCA>CAA		mitochondrial ATP synthase beta subunit							88.0	92.0	91.0					12																	57039026		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57039026G>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.239C>A	12.37:g.57039026G>T	ENSP00000262030:p.Pro80Gln					SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank	p.P80Q	NM_001686	NP_001677	P06576	ATPB_HUMAN			2	344	-			80					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.239C>A	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100207	0.76983	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000553007	D;D;D	0.89123	-2.47;-2.47;-2.47	5.11	5.11	0.69529	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97932	0.9320	H	0.99992	5.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98979	1.0804	10	0.87932	D	0	-10.1214	17.8208	0.88650	0.0:0.0:1.0:0.0	.	80	P06576	ATPB_HUMAN	Q	80	ENSP00000262030:P80Q;ENSP00000450297:P80Q;ENSP00000447571:P80Q	ENSP00000262030:P80Q	P	-	2	0	ATP5B	55325293	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	8.919000	0.92770	2.808000	0.96608	0.655000	0.94253	CCA		PASS	0.557	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		5	72	5	72	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57595586	57595586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:57595586G>T	ENST00000243077.3	+	67	10958	c.10492G>T	c.(10492-10494)Gag>Tag	p.E3498*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3498	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.E3498*(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGTGTGGACGAGTTCCGCTG	0.632																																						uc001snd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(10492-10494)GAG>TAG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						111.0	104.0	106.0					12																	57595586		2203	4300	6503	SO:0001587	stop_gained	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57595586G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10492G>T	12.37:g.57595586G>T	ENSP00000243077:p.Glu3498*						p.E3498*	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	67	10958	+			3498			Extracellular (Potential).|LDL-receptor class A 25.		Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	c.10492G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797456	0.90538	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	.	.	.	4.73	4.73	0.59995	.	0.072601	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.697	0.85338	0.0:0.0:1.0:0.0	.	.	.	.	X	3498;65	.	ENSP00000243077:E3498X	E	+	1	0	LRP1	55881853	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.715000	0.84713	2.447000	0.82792	0.603000	0.83216	GAG		PASS	0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	78	4	78	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	64061895	64061896	+	Missense_Mutation	DNP	CC	CC	AT	rs111719532		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:64061895_64061896CC>AT	ENST00000324472.4	-	1	461_462	c.278_279GG>AT	c.(277-279)cGG>cAT	p.R93H	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	93					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R93R(1)|p.R93H(1)|p.R93Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCACCTTTTCCCGGAGCTGCGC	0.609																																						uc001srp.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)|skin(1)	2						c.(277-279)CGG>CGT|c.(277-279)CGG>CAG		dpy-19-like 2																																				SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061895C>A|g.chr12:64061896C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.278_279delinsAT	12.37:g.64061895_64061896delinsAT	ENSP00000315988:p.Arg93His					DPY19L2_uc009zqk.1_RNA	p.R93R|p.R93Q	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	460|459	-			93					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent|Missense_Mutation	SNP	ENST00000324472.4	37	c.279G>T|c.278G>A	CCDS31851.1																																																																																				PASS	0.609	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		22|20	61	20	61	---	---	---	---
ACTR6	64431	broad.mit.edu	37	12	100617613	100617613	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:100617613G>T	ENST00000188312.2	+	11	1876	c.1111G>T	c.(1111-1113)Gat>Tat	p.D371Y	ACTR6_ENST00000551617.1_Missense_Mutation_p.D269Y|ACTR6_ENST00000546902.1_Missense_Mutation_p.D289Y|ACTR6_ENST00000552376.1_Missense_Mutation_p.D351Y	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	371						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.D371Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AGAGAATGATGATTTTGAAGA	0.328																																						uc001thb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)GAT>TAT		ARP6 actin-related protein 6 homolog							121.0	125.0	124.0					12																	100617613		2203	4300	6503	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100617613G>T	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1111G>T	12.37:g.100617613G>T	ENSP00000188312:p.Asp371Tyr					ACTR6_uc001thc.1_Missense_Mutation_p.D263Y|ACTR6_uc001thd.1_Missense_Mutation_p.D351Y|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.D289Y|ACTR6_uc001thf.1_Missense_Mutation_p.D269Y|uc001thg.1_5'Flank	p.D371Y	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			11	1167	+			371					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.1111G>T	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727593	0.89390	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.94576	-3.46;-3.46;3.15;3.15	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.96510	0.8861	M	0.65975	2.015	0.80722	D	1	D;D;D	0.62365	0.991;0.989;0.991	P;P;P	0.59115	0.655;0.769;0.852	D	0.96226	0.9164	10	0.66056	D	0.02	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	269;351;371	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	Y	371;289;351;269	ENSP00000188312:D371Y;ENSP00000448669:D289Y;ENSP00000447237:D351Y;ENSP00000448356:D269Y	ENSP00000188312:D371Y	D	+	1	0	ACTR6	99141744	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.260000	0.95568	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.328	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		6	63	6	63	---	---	---	---
CMKLR1	1240	broad.mit.edu	37	12	108686289	108686289	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:108686289G>A	ENST00000312143.7	-	3	814	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R149C|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R151C|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R151C|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R149C	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	151					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R149C(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CGAACGCTGCGGTGGTTCTGG	0.572																																						uc009zuw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(451-453)CGC>TGC		chemokine-like receptor 1 isoform a							75.0	78.0	77.0					12																	108686289		2148	4256	6404	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686289G>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.451C>T	12.37:g.108686289G>A	ENSP00000311733:p.Arg151Cys					CMKLR1_uc001tmw.2_Missense_Mutation_p.R151C|CMKLR1_uc001tmv.2_Missense_Mutation_p.R149C|CMKLR1_uc009zuv.2_Missense_Mutation_p.R151C	p.R151C	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	642	-			151			Cytoplasmic (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.451C>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	g	19.02	3.745995	0.69418	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78876	-0.2031	10	0.87932	D	0	.	17.788	0.88543	0.0:0.0:1.0:0.0	.	151	Q99788	CML1_HUMAN	C	151;151;149;149;151	ENSP00000311733:R151C;ENSP00000401293:R151C;ENSP00000380803:R149C;ENSP00000447579:R149C;ENSP00000449716:R151C	ENSP00000311733:R151C	R	-	1	0	CMKLR1	107210419	1.000000	0.71417	0.999000	0.59377	0.270000	0.26580	7.854000	0.86942	2.448000	0.82819	0.486000	0.48141	CGC		PASS	0.572	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			6	65	6	65	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112486193	112486193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:112486193C>A	ENST00000261745.4	-	16	2031	c.1783G>T	c.(1783-1785)Gag>Tag	p.E595*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	595						cytoplasm (GO:0005737)		p.E595*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCGATAAACTCTGGGATCTTC	0.373																																						uc001ttm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1783-1785)GAG>TAG		mitochondrial distribution and morphology 20							120.0	113.0	115.0					12																	112486193		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112486193C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1783G>T	12.37:g.112486193C>A	ENSP00000261745:p.Glu595*					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.E567*|NAA25_uc009zwa.1_Nonsense_Mutation_p.E595*	p.E595*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			16	1803	-			595					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.1783G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766081	0.98477	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.0564	19.5841	0.95484	0.0:1.0:0.0:0.0	.	.	.	.	X	595	.	ENSP00000261745:E595X	E	-	1	0	NAA25	110970576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.604000	0.88044	0.655000	0.94253	GAG		PASS	0.373	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		9	58	9	58	---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112926888	112926888	+	Missense_Mutation	SNP	G	G	T	rs397507546		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:112926888G>T	ENST00000351677.2	+	13	1706	c.1508G>T	c.(1507-1509)gGg>gTg	p.G503V		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	507	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.G503A(12)|p.G503V(8)|p.G503E(2)|p.G503L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAGGTCAGGGATGGTCCAG	0.468			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		23	Substitution - Missense(23)	p.G503A(14)|p.G503V(8)|p.G503E(2)|p.G503L(1)|p.G503R(1)	haematopoietic_and_lymphoid_tissue(21)|lung(2)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	GRCh37	CM086897	PTPN11	M		c.(1507-1509)GGG>GTG		protein tyrosine phosphatase, non-receptor type							181.0	169.0	173.0					12																	112926888		2203	4300	6503	SO:0001583	missense	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926888G>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1508G>T	12.37:g.112926888G>T	ENSP00000340944:p.Gly503Val						p.G503V	NM_002834	NP_002825	Q06124	PTN11_HUMAN			13	1888	+			507		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).	Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1508G>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172790	0.94807	.	.	ENSG00000179295	ENST00000351677	D	0.99399	-5.83	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97291	0.9924	10	0.66056	D	0.02	.	18.9358	0.92584	0.0:0.0:1.0:0.0	.	503	Q06124-2	.	V	503	ENSP00000340944:G503V	ENSP00000340944:G503V	G	+	2	0	PTPN11	111411271	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.553000	0.86117	0.650000	0.86243	GGG		PASS	0.468	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			31	174	31	174	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117768764	117768764	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr12:117768764A>T	ENST00000338101.4	-	1	115	c.111T>A	c.(109-111)agT>agA	p.S37R	NOS1_ENST00000317775.6_Missense_Mutation_p.S37R|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.S37R			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					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.S37R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGGGCGGCTTACTGACCCGCT	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(109-111)AGT>AGA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						50.0	52.0	52.0					12																	117768764		1919	4120	6039	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768764A>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.111T>A	12.37:g.117768764A>T	ENSP00000337459:p.Ser37Arg						p.S37R	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	797	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		37			Interaction with NOSIP (By similarity).|PDZ.			Missense_Mutation	SNP	ENST00000338101.4	37	c.111T>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123073	0.56613	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.27890	1.64;1.64;1.64	4.72	3.82	0.43975	PDZ/DHR/GLGF (4);	0.423425	0.29522	N	0.011903	T	0.26666	0.0652	L	0.28649	0.875	0.47698	D	0.999498	P	0.36647	0.563	B	0.42343	0.384	T	0.03534	-1.1027	10	0.29301	T	0.29	-12.7651	12.1354	0.53968	0.0844:0.0:0.9156:0.0	.	37	P29475	NOS1_HUMAN	R	37	ENSP00000320758:S37R;ENSP00000339862:S37R;ENSP00000337459:S37R	ENSP00000320758:S37R	S	-	3	2	NOS1	116253147	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	4.395000	0.59678	1.187000	0.43000	-0.366000	0.07423	AGT		PASS	0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	41	8	41	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32900678	32900678	+	Nonsense_Mutation	SNP	G	G	T	rs80358780		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr13:32900678G>T	ENST00000380152.3	+	7	792	c.559G>T	c.(559-561)Gag>Tag	p.E187*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.E187*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	187					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E187*(2)|p.E187K(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTAGGAGCTGAGGTGGATCC	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		3	Substitution - Nonsense(2)|Substitution - Missense(1)	p.E187K(1)	lung(2)|salivary_gland(1)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(559-561)GAG>TAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							117.0	115.0	116.0					13																	32900678		2203	4300	6503	SO:0001587	stop_gained	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32900678G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.559G>T	13.37:g.32900678G>T	ENSP00000369497:p.Glu187*	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Nonsense_Mutation_p.E64*	p.E187*	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	7	786	+		Lung SC(185;0.0262)	187					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.559G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	38	7.027267	0.98013	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	.	.	.	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2691	0.94002	0.0:0.0:1.0:0.0	.	.	.	.	X	187;187;185	.	ENSP00000369497:E187X	E	+	1	0	BRCA2	31798678	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	5.294000	0.65687	2.551000	0.86045	0.462000	0.41574	GAG		PASS	0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		5	66	5	66	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46730577	46730577	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr13:46730577G>T	ENST00000398576.2	-	8	875	c.487C>A	c.(487-489)Ctt>Att	p.L163I	LCP1_ENST00000323076.2_Missense_Mutation_p.L163I|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	163	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.L163I(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATTTACCAAAGGACAATGCCA	0.383			T	BCL6	NHL																																	uc001vaz.3				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)	7						c.(487-489)CTT>ATT		L-plastin							197.0	191.0	193.0					13																	46730577		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730577G>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.487C>A	13.37:g.46730577G>T	ENSP00000381581:p.Leu163Ile					LCP1_uc001vba.3_Missense_Mutation_p.L163I	p.L163I	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	613	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	163			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.487C>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945139	0.92593	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.98684	-5.07;-5.07;-5.07	5.4	5.4	0.78164	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.84511	2.7	0.80722	D	1	P	0.50156	0.932	P	0.62298	0.9	D	0.99406	1.0929	10	0.54805	T	0.06	.	18.5162	0.90936	0.0:0.0:1.0:0.0	.	163	P13796	PLSL_HUMAN	I	163	ENSP00000315757:L163I;ENSP00000381581:L163I;ENSP00000408052:L163I	ENSP00000315757:L163I	L	-	1	0	LCP1	45628578	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.783000	0.99037	2.685000	0.91497	0.655000	0.94253	CTT		PASS	0.383	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		6	92	6	92	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52603078	52603078	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr13:52603078G>T	ENST00000521776.2	+	2	871	c.138G>T	c.(136-138)ctG>ctT	p.L46L	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	46					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.L46L(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AAAAGCTTCTGGAAGCAATCA	0.453																																						uc001vgb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|breast(1)	5						c.(136-138)CTG>CTT		UTP14, U3 small nucleolar ribonucleoprotein,							186.0	191.0	189.0					13																	52603078		2203	4300	6503	SO:0001819	synonymous_variant	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603078G>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.138G>T	13.37:g.52603078G>T						UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	p.L46L	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	673	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	46					Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	37	c.138G>T	CCDS31978.1																																																																																				PASS	0.453	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		8	149	8	149	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77699588	77699588	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr13:77699588C>T	ENST00000544440.2	-	54	7803	c.7786G>A	c.(7786-7788)Ggg>Agg	p.G2596R	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G2634R|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G2596R|MYCBP2_ENST00000360084.5_Missense_Mutation_p.G59R					MYC binding protein 2, E3 ubiquitin protein ligase									p.G2596R(2)|p.G59R(1)|p.G2634R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCCATGTCCCTTCAGAATTG	0.443																																						uc001vkf.2																			4	Substitution - Missense(4)		lung(4)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(7786-7788)GGG>AGG		MYC binding protein 2							275.0	229.0	245.0					13																	77699588		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77699588C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7786G>A	13.37:g.77699588C>T	ENSP00000444596:p.Gly2596Arg					MYCBP2_uc010aev.2_Missense_Mutation_p.G2000R|MYCBP2_uc001vkg.1_Missense_Mutation_p.G59R	p.G2596R	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	55	7877	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2596						Missense_Mutation	SNP	ENST00000544440.2	37	c.7786G>A		.	.	.	.	.	.	.	.	.	.	C	18.89	3.718627	0.68844	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.77620	-0.32;-0.34;-0.32;-1.11	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86814	0.6023	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86904	0.2056	10	0.87932	D	0	.	20.1848	0.98211	0.0:1.0:0.0:0.0	.	2596;2596	O75592-2;O75592	.;MYCB2_HUMAN	R	2596;2634;2596;59	ENSP00000349892:G2596R;ENSP00000384288:G2634R;ENSP00000444596:G2596R;ENSP00000353197:G59R	ENSP00000349892:G2596R	G	-	1	0	MYCBP2	76597589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.802000	0.85969	2.775000	0.95449	0.585000	0.79938	GGG		PASS	0.443	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	43	8	43	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92346109	92346109	+	Missense_Mutation	SNP	C	C	A	rs372453843		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr13:92346109C>A	ENST00000377067.3	+	3	1366	c.994C>A	c.(994-996)Ctc>Atc	p.L332I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	332					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L332I(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACAGGCTCACCTCAATGGACA	0.393																																						uc010tif.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(994-996)CTC>ATC		glypican 5 precursor							99.0	100.0	100.0					13																	92346109		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92346109C>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.994C>A	13.37:g.92346109C>A	ENSP00000366267:p.Leu332Ile						p.L332I	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1360	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	332					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.994C>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168617	0.21621	.	.	ENSG00000179399	ENST00000377067	T	0.50001	0.76	5.65	0.0324	0.14175	.	0.831109	0.11067	N	0.603354	T	0.25158	0.0611	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.23762	-1.0179	10	0.13853	T	0.58	-1.4263	3.5314	0.07778	0.419:0.2116:0.2924:0.077	.	332	P78333	GPC5_HUMAN	I	332	ENSP00000366267:L332I	ENSP00000366267:L332I	L	+	1	0	GPC5	91144110	0.000000	0.05858	0.096000	0.21009	0.971000	0.66376	-0.394000	0.07296	0.032000	0.15435	0.650000	0.86243	CTC		PASS	0.393	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		5	60	5	60	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	102029299	102029299	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr13:102029299G>T	ENST00000251127.6	-	5	565	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	NALCN_ENST00000376200.5_Missense_Mutation_p.L162M|NALCN_ENST00000376196.3_Missense_Mutation_p.L162M|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	162					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.L162M(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCCTTGGCAGTTCAAATCGG	0.368																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(484-486)CTG>ATG		voltage gated channel like 1							69.0	71.0	70.0					13																	102029299		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029299G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.484C>A	13.37:g.102029299G>T	ENSP00000251127:p.Leu162Met					NALCN_uc001voy.2_Translation_Start_Site|NALCN_uc001voz.2_Missense_Mutation_p.L162M|NALCN_uc001vpa.2_Missense_Mutation_p.L162M	p.L162M	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			5	673	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		162			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.484C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910525	0.33721	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98419	-4.92;-4.92;-4.92	4.92	2.24	0.28232	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.96741	0.8936	N	0.25060	0.705	0.58432	D	0.999997	D;D	0.55605	0.972;0.972	P;P	0.62184	0.867;0.899	D	0.94062	0.7327	10	0.30078	T	0.28	.	9.6052	0.39630	0.2259:0.0:0.7741:0.0	.	162;162	F2Z323;Q8IZF0	.;NALCN_HUMAN	M	162	ENSP00000251127:L162M;ENSP00000365367:L162M;ENSP00000365373:L162M	ENSP00000251127:L162M	L	-	1	2	NALCN	100827300	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	3.109000	0.50345	0.497000	0.27926	0.650000	0.86243	CTG		PASS	0.368	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		5	34	5	34	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31585550	31585550	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:31585550G>C	ENST00000399332.1	-	30	5998	c.5510C>G	c.(5509-5511)aCc>aGc	p.T1837S	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1837S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1837					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.T1837S(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCTGAAATTGGTGAGTGGTAA	0.408																																						uc001wrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(5509-5511)ACC>AGC		HECT domain containing 1							131.0	124.0	126.0					14																	31585550		1873	4105	5978	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31585550G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5510C>G	14.37:g.31585550G>C	ENSP00000382269:p.Thr1837Ser					HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.T1305S	p.T1837S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	30	5999	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1837					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5510C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.000|8.000	0.755272|0.755272	0.15846|0.15846	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	5.74|5.74	1.82|1.82	0.25136|0.25136	.|.	.|0.153273	.|0.41712	.|U	.|0.000822	T|T	0.14830|0.14830	0.0358|0.0358	N|N	0.08118|0.08118	0|0	0.32338|0.32338	N|N	0.560138|0.560138	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.30446|0.30446	-0.9978|-0.9978	5|10	.|0.05436	.|T	.|0.98	-1.1324|-1.1324	3.4651|3.4651	0.07547|0.07547	0.1281:0.1165:0.5146:0.2408|0.1281:0.1165:0.5146:0.2408	.|.	.|1837;1837	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	A|S	203|1837;1839;1837;1264	.|ENSP00000450697:T1837S;ENSP00000382269:T1837S;ENSP00000451860:T1264S	.|ENSP00000261312:T1839S	P|T	-|-	1|2	0|0	HECTD1|HECTD1	30655301|30655301	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	4.043000|4.043000	0.57354|0.57354	0.062000|0.062000	0.16340|0.16340	-0.143000|-0.143000	0.13931|0.13931	CCA|ACC		PASS	0.408	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			3	41	3	41	---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39565184	39565184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:39565184C>A	ENST00000307712.6	-	2	656	c.139G>T	c.(139-141)Gag>Tag	p.E47*	SEC23A_ENST00000557280.1_Nonsense_Mutation_p.E47*|SEC23A_ENST00000548032.2_Nonsense_Mutation_p.E47*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E47*|SEC23A_ENST00000553970.1_Nonsense_Mutation_p.E47*|SEC23A_ENST00000536508.1_Intron	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	47					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.E47*(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCAGGTCTCTCTTTCAGTGGT	0.428																																						uc001wup.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(139-141)GAG>TAG		SEC23-related protein A							123.0	110.0	115.0					14																	39565184		2203	4300	6503	SO:0001587	stop_gained	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39565184C>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.139G>T	14.37:g.39565184C>A	ENSP00000306881:p.Glu47*					SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Nonsense_Mutation_p.E47*	p.E47*	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	2	362	-	Hepatocellular(127;0.213)		47					B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	c.139G>T	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	36	5.753465	0.96890	.	.	ENSG00000100934	ENST00000307712;ENST00000545328;ENST00000555017;ENST00000556092;ENST00000548032;ENST00000555425;ENST00000557280;ENST00000553970	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-16.3942	19.8885	0.96919	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000306881:E47X	E	-	1	0	SEC23A	38634935	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.802000	0.85969	2.700000	0.92200	0.563000	0.77884	GAG		PASS	0.428	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			8	72	8	72	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120931	47120931	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:47120931G>T	ENST00000298283.3	-	1	97	c.9C>A	c.(7-9)cgC>cgA	p.R3R		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	3					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.R4S(1)|p.R3R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GAGCTGGACGGCGCCCCATGG	0.557																																						uc001wwg.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(7-9)CGC>CGA		ribosomal protein L10-like protein							65.0	69.0	67.0					14																	47120931		2203	4300	6503	SO:0001819	synonymous_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120931G>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.9C>A	14.37:g.47120931G>T							p.R3R	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	98	-			3					Q8IUD1	Silent	SNP	ENST00000298283.3	37	c.9C>A	CCDS32071.1																																																																																				PASS	0.557	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			5	51	5	51	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92548666	92548666	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:92548666C>A	ENST00000532032.1	-	8	762	c.753G>T	c.(751-753)agG>agT	p.R251S	ATXN3_ENST00000393287.5_Missense_Mutation_p.R251S|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000545170.1_Missense_Mutation_p.R251S|ATXN3_ENST00000340660.6_Missense_Mutation_p.R196S|ATXN3_ENST00000429774.2_Missense_Mutation_p.R236S|ATXN3_ENST00000502250.1_Missense_Mutation_p.R72S|ATXN3_ENST00000503767.1_Missense_Mutation_p.R236S			P54252	ATX3_HUMAN	ataxin 3	251					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R251S(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GCTGAATAGCCCTGCGGAGAT	0.413																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3																			1	Substitution - Missense(1)		lung(1)		0						c.(751-753)AGG>AGT		ataxin 3 reference isoform							173.0	147.0	156.0					14																	92548666		2203	4300	6503	SO:0001583	missense	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92548666C>A	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.753G>T	14.37:g.92548666C>A	ENSP00000437157:p.Arg251Ser					ATXN3_uc010aug.2_Missense_Mutation_p.R236S|ATXN3_uc001yad.3_Missense_Mutation_p.R196S|ATXN3_uc010auh.2_Missense_Mutation_p.R185S|ATXN3_uc001yae.3_Missense_Mutation_p.R153S|ATXN3_uc010twl.1_RNA	p.R251S	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	8	822	-		all_cancers(154;0.0768)	251			UIM 2.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	ENST00000532032.1	37	c.753G>T		.	.	.	.	.	.	.	.	.	.	C	15.11	2.735356	0.48939	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40225	2.12;2.17;2.19;1.53;2.14;1.82;1.85;1.4;1.04;1.84;1.4;1.37;1.36;1.41	5.29	2.02	0.26589	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.56769	1.78	0.58432	D	0.999995	B;B;B;B;B	0.33841	0.082;0.057;0.079;0.428;0.02	B;B;B;B;B	0.42282	0.1;0.082;0.087;0.382;0.034	T	0.17228	-1.0376	10	0.37606	T	0.19	.	6.754	0.23503	0.0:0.5569:0.0:0.4431	.	251;236;251;196;251	P54252;E9PB63;F5H096;P54252-3;P54252-2	ATX3_HUMAN;.;.;.;.	S	251;251;251;251;251;251;251;236;250;251;72;236;196;251;181;72;250;153;200;145;185	ENSP00000445618:R251S;ENSP00000389376:R236S;ENSP00000376965:R251S;ENSP00000425322:R72S;ENSP00000426697:R236S;ENSP00000339110:R196S;ENSP00000437157:R251S;ENSP00000451001:R181S;ENSP00000450642:R72S;ENSP00000451385:R250S;ENSP00000451417:R153S;ENSP00000451996:R200S;ENSP00000450641:R145S;ENSP00000435571:R185S	ENSP00000339110:R196S	R	-	3	2	ATXN3	91618419	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.742000	0.26216	0.626000	0.30322	-0.350000	0.07774	AGG		PASS	0.413	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		12	49	12	49	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95560326	95560326	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:95560326G>T	ENST00000526495.1	-	26	5554	c.5263C>A	c.(5263-5265)Cac>Aac	p.H1755N	DICER1_ENST00000541352.1_Missense_Mutation_p.H1755N|DICER1_ENST00000556045.1_Missense_Mutation_p.H653N|DICER1_ENST00000343455.3_Missense_Mutation_p.H1755N|DICER1_ENST00000393063.1_Missense_Mutation_p.H1755N|DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000527414.1_Missense_Mutation_p.H1755N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1755	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.H1755N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAGTACTTGTGGTAGTCGTAC	0.507			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5263-5265)CAC>AAC		dicer1							140.0	131.0	134.0					14																	95560326		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560326G>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5263C>A	14.37:g.95560326G>T	ENSP00000437256:p.His1755Asn					DICER1_uc010avh.1_Missense_Mutation_p.H653N|DICER1_uc001ydv.2_Missense_Mutation_p.H1745N|DICER1_uc001ydx.2_Missense_Mutation_p.H1755N	p.H1755N	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5445	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1755			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5263C>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896647	0.91962	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.29	5.29	0.74685	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.87446	0.6179	M	0.69463	2.115	0.80722	D	1	D;D	0.76494	0.986;0.999	D;D	0.85130	0.947;0.997	D	0.87694	0.2556	10	0.54805	T	0.06	-24.9053	18.951	0.92641	0.0:0.0:1.0:0.0	.	653;1755	B3KRG4;Q9UPY3	.;DICER_HUMAN	N	1755;1755;1755;1755;653;1755	ENSP00000343745:H1755N;ENSP00000437256:H1755N;ENSP00000376783:H1755N;ENSP00000435681:H1755N;ENSP00000451041:H653N;ENSP00000444719:H1755N	ENSP00000343745:H1755N	H	-	1	0	DICER1	94630079	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.389000	0.97243	2.468000	0.83385	0.655000	0.94253	CAC		PASS	0.507	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			6	77	6	77	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95669862	95669862	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:95669862C>A	ENST00000298912.4	-	9	1937	c.1824G>T	c.(1822-1824)agG>agT	p.R608S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	608					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R608S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ATTTAATACTCCTTTTACCTA	0.443																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1822-1824)AGG>AGT		calmin							65.0	61.0	63.0					14																	95669862		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669862C>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1824G>T	14.37:g.95669862C>A	ENSP00000298912:p.Arg608Ser						p.R608S	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1940	-			608					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1824G>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049088	0.36181	.	.	ENSG00000165959	ENST00000298912	D	0.93547	-3.24	5.26	3.43	0.39272	.	0.313940	0.22908	N	0.054175	D	0.89107	0.6621	M	0.64997	1.995	0.09310	N	0.999998	P	0.38922	0.651	B	0.33521	0.165	T	0.82621	-0.0367	10	0.62326	D	0.03	.	5.0917	0.14711	0.1673:0.661:0.0:0.1717	.	608	Q96JQ2	CLMN_HUMAN	S	608	ENSP00000298912:R608S	ENSP00000298912:R608S	R	-	3	2	CLMN	94739615	0.000000	0.05858	0.032000	0.17829	0.005000	0.04900	0.106000	0.15354	0.598000	0.29829	0.655000	0.94253	AGG		PASS	0.443	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			18	46	18	46	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96771996	96771996	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:96771996G>T	ENST00000359933.4	-	31	5556	c.4663C>A	c.(4663-4665)Ctt>Att	p.L1555I	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1555					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L1555I(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCCAGACAAGAGAGACCTCC	0.408																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(4663-4665)CTT>ATT		ATG2 autophagy related 2 homolog B							96.0	88.0	91.0					14																	96771996		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96771996G>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4663C>A	14.37:g.96771996G>T	ENSP00000353010:p.Leu1555Ile						p.L1555I	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	31	5028	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1555					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4663C>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193709	0.58017	.	.	ENSG00000066739	ENST00000359933	T	0.48522	0.81	5.55	4.64	0.57946	.	0.213578	0.42053	N	0.000763	T	0.48314	0.1493	M	0.73598	2.24	0.47214	D	0.99935	B	0.02656	0.0	B	0.06405	0.002	T	0.45338	-0.9268	10	0.18710	T	0.47	.	15.5738	0.76359	0.0:0.0:0.861:0.139	.	1555	Q96BY7	ATG2B_HUMAN	I	1555	ENSP00000353010:L1555I	ENSP00000261834:L199I	L	-	1	0	ATG2B	95841749	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	3.464000	0.53057	1.298000	0.44778	0.591000	0.81541	CTT		PASS	0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		5	54	5	54	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106110271	106110271	+	RNA	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:106110271C>T	ENST00000390545.2	-	0	346							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GACTGACGGTCCTGCCACAGG	0.627																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							73.0	71.0	71.0					14																	106110271		2094	4199	6293			8755							g.chr14:106110271C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110271C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_RNA								3642		-								A6NE66	RNA	SNP	ENST00000390545.2	37	c.60980G>A																																																																																					PASS	0.627	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		10	51	10	51	---	---	---	---
IGHV2-5	28457	broad.mit.edu	37	14	106494206	106494206	+	RNA	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:106494206T>C	ENST00000390597.2	-	0	305									immunoglobulin heavy variable 2-5																		ACCTGGTTTTTGGAGGTGTCC	0.517																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							152.0	140.0	144.0					14																	106494206		2015	4184	6199			8755							g.chr14:106494206T>C	X62111		14q32.33	2012-02-08			ENSG00000211937	ENSG00000211937		"""Immunoglobulins / IGH locus"""	5576	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152287		14.37:g.106494206T>C														1760		-									RNA	SNP	ENST00000390597.2	37	c.34792A>G																																																																																					PASS	0.517	IGHV2-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325675.1	NG_001019		20	57	20	57	---	---	---	---
IGHV2-5	28457	broad.mit.edu	37	14	106494324	106494324	+	RNA	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr14:106494324G>C	ENST00000390597.2	-	0	187									immunoglobulin heavy variable 2-5																		GACGGATCCAGCCCACACCCA	0.562																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							67.0	65.0	66.0					14																	106494324		2033	4166	6199			8755							g.chr14:106494324G>C	X62111		14q32.33	2012-02-08			ENSG00000211937	ENSG00000211937		"""Immunoglobulins / IGH locus"""	5576	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152287		14.37:g.106494324G>C														1760		-									RNA	SNP	ENST00000390597.2	37	c.34674C>G																																																																																					PASS	0.562	IGHV2-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325675.1	NG_001019		5	51	5	51	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22853811	22853811	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:22853811G>T	ENST00000283645.4	+	12	1579	c.1449G>T	c.(1447-1449)ggG>ggT	p.G483G	TUBGCP5_ENST00000453949.2_Silent_p.G483G|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	483					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.G483G(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCGTGCACGGGCACCTGTGGG	0.602																																						uc001yur.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1447-1449)GGG>GGT		tubulin, gamma complex associated protein 5							71.0	60.0	64.0					15																	22853811		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22853811G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1449G>T	15.37:g.22853811G>T						TUBGCP5_uc001yuq.2_Silent_p.G483G|TUBGCP5_uc010axz.1_Silent_p.G70G	p.G483G	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	12	1579	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	483					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.1449G>T	CCDS10008.1																																																																																				PASS	0.602	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		4	18	4	18	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27222171	27222171	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:27222171G>A	ENST00000333743.6	+	2	330	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	GABRG3_ENST00000555083.1_Missense_Mutation_p.E26K	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	26					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E26K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAAGAGGATGAATATGAAGA	0.428																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)GAA>AAA		gamma-aminobutyric acid (GABA) A receptor, gamma							85.0	84.0	84.0					15																	27222171		1870	4099	5969	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27222171G>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.76G>A	15.37:g.27222171G>A	ENSP00000331912:p.Glu26Lys					GABRG3_uc001zbf.2_Missense_Mutation_p.E26K	p.E26K	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	2	242	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	26			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.76G>A	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180781	0.78677	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	T;T	0.81247	-1.47;0.65	5.28	5.28	0.74379	.	.	.	.	.	T	0.80003	0.4544	L	0.51422	1.61	0.54753	D	0.999983	B;B	0.33549	0.417;0.337	B;B	0.38428	0.103;0.273	T	0.79446	-0.1800	9	0.48119	T	0.1	.	18.2405	0.89966	0.0:0.0:1.0:0.0	.	26;26	Q99928;G3V594	GBRG3_HUMAN;.	K	26	ENSP00000331912:E26K;ENSP00000452244:E26K	ENSP00000331912:E26K	E	+	1	0	GABRG3	24804917	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.719000	0.91436	2.618000	0.88619	0.557000	0.71058	GAA		PASS	0.428	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			8	52	8	52	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34032134	34032134	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:34032134G>T	ENST00000389232.4	+	51	7828	c.7758G>T	c.(7756-7758)ttG>ttT	p.L2586F	RYR3_ENST00000415757.3_Missense_Mutation_p.L2586F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2586	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L2586F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCCACGTTGGAGAAACAGA	0.463																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(7756-7758)TTG>TTT		ryanodine receptor 3							88.0	83.0	84.0					15																	34032134		1946	4131	6077	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34032134G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7758G>T	15.37:g.34032134G>T	ENSP00000373884:p.Leu2586Phe					RYR3_uc010bar.2_Missense_Mutation_p.L2586F	p.L2586F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	51	7828	+		all_lung(180;7.18e-09)	2586			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.7758G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586549	0.28268	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.96885	-0.94;-4.16	5.55	5.55	0.83447	.	0.187801	0.34959	N	0.003548	D	0.93491	0.7923	L	0.50333	1.59	0.45172	D	0.998185	B;B	0.30973	0.302;0.286	B;B	0.37015	0.101;0.239	D	0.88033	0.2776	10	0.10377	T	0.69	.	9.2652	0.37636	0.1899:0.0:0.8101:0.0	.	2586;2586	Q15413-2;Q15413	.;RYR3_HUMAN	F	2586	ENSP00000373884:L2586F;ENSP00000399610:L2586F	ENSP00000354735:L2586F	L	+	3	2	RYR3	31819426	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	1.565000	0.36386	2.885000	0.99019	0.655000	0.94253	TTG		PASS	0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			10	49	10	49	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41856430	41856430	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:41856430G>A	ENST00000263798.3	+	5	853	c.629G>A	c.(628-630)gGc>gAc	p.G210D	TYRO3_ENST00000559066.1_Missense_Mutation_p.G165D	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	210	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G210D(1)|p.G202D(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AACCTAAAAGGCCTGGCCTCT	0.597																																						uc001zof.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(628-630)GGC>GAC		TYRO3 protein tyrosine kinase precursor							107.0	96.0	100.0					15																	41856430		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41856430G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.629G>A	15.37:g.41856430G>A	ENSP00000263798:p.Gly210Asp						p.G210D	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	5	853	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	210			Ig-like C2-type 2.|Extracellular (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.629G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155871	0.94686	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.14766	2.48	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000895	T	0.50360	0.1611	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.64964	-0.6283	10	0.72032	D	0.01	-12.9581	18.168	0.89734	0.0:0.0:1.0:0.0	.	210	Q06418	TYRO3_HUMAN	D	142;210	ENSP00000263798:G210D	ENSP00000263798:G210D	G	+	2	0	TYRO3	39643722	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.943000	0.87716	2.537000	0.85549	0.561000	0.74099	GGC		PASS	0.597	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			12	62	12	62	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742724	42742724	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:42742724G>T	ENST00000263805.4	-	2	2003	c.1677C>A	c.(1675-1677)acC>acA	p.T559T	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	559					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T559T(1)									CATAGTTCCTGGTACTTTTAG	0.368																																						uc001zpw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1675-1677)ACC>ACA		zinc finger protein 106 homolog							95.0	95.0	95.0					15																	42742724		2203	4299	6502	SO:0001819	synonymous_variant	64397					nucleolus	zinc ion binding	g.chr15:42742724G>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1677C>A	15.37:g.42742724G>T						ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.T342T|ZFP106_uc001zpy.1_Silent_p.T582T	p.T559T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	2012	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	559					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.1677C>A	CCDS32208.1																																																																																				PASS	0.368	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		6	80	6	80	---	---	---	---
WDR76	79968	broad.mit.edu	37	15	44143306	44143306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:44143306G>T	ENST00000263795.6	+	9	1124	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	WDR76_ENST00000381246.2_Nonsense_Mutation_p.G288*	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	352								p.G352*(2)		breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TAAAGAAGATGGAGTTTATGT	0.433																																						uc001zti.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1054-1056)GGA>TGA		WD repeat domain 76							134.0	133.0	133.0					15																	44143306		2198	4298	6496	SO:0001587	stop_gained	79968							g.chr15:44143306G>T	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1054G>T	15.37:g.44143306G>T	ENSP00000263795:p.Gly352*						p.G352*	NM_024908	NP_079184	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	9	1077	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	352			WD 1.		A0MNP5|Q05CI4	Nonsense_Mutation	SNP	ENST00000263795.6	37	c.1054G>T	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	39	7.363840	0.98238	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	.	.	.	6.08	6.08	0.98989	.	0.052149	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-3.1521	18.1573	0.89696	0.0:0.0:1.0:0.0	.	.	.	.	X	352;288	.	ENSP00000263795:G352X	G	+	1	0	WDR76	41930598	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	6.194000	0.72082	2.894000	0.99253	0.655000	0.94253	GGA		PASS	0.433	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		6	87	6	87	---	---	---	---
CTDSPL2	51496	broad.mit.edu	37	15	44816320	44816320	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:44816320G>T	ENST00000260327.4	+	13	1912	c.1349G>T	c.(1348-1350)cGa>cTa	p.R450L	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.R378L|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.R450L|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.R378L	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	450							phosphoprotein phosphatase activity (GO:0004721)	p.R450L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GAAGATGTTCGACCACACATC	0.388																																						uc001ztr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)CGA>CTA		CTD (carboxy-terminal domain, RNA polymerase II,							110.0	104.0	106.0					15																	44816320		2198	4298	6496	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44816320G>T	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1349G>T	15.37:g.44816320G>T	ENSP00000260327:p.Arg450Leu					CTDSPL2_uc001zts.2_Missense_Mutation_p.R450L|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R450L|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R378L	p.R450L	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	13	1765	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	450					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.1349G>T	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020940	0.93462	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.22539	1.95;1.95	5.7	4.79	0.61399	NLI interacting factor (1);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.145119	0.48767	D	0.000174	T	0.66117	0.2757	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.991;0.995	T	0.82055	-0.0647	10	0.87932	D	0	-3.7992	14.423	0.67196	0.0707:0.0:0.9292:0.0	.	378;450	Q05D32-2;Q05D32	.;CTSL2_HUMAN	L	450;378	ENSP00000260327:R450L;ENSP00000380000:R378L	ENSP00000260327:R450L	R	+	2	0	CTDSPL2	42603612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.795000	0.99099	1.404000	0.46819	0.557000	0.71058	CGA		PASS	0.388	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		4	50	4	50	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45402882	45402882	+	Silent	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:45402882G>A	ENST00000603300.1	-	8	1111	c.909C>T	c.(907-909)ccC>ccT	p.P303P	DUOX2_ENST00000389039.6_Silent_p.P303P	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	303	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.P303P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCAGGAAGCTGGGCAGCCACT	0.612																																						uc010bea.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(907-909)CCC>CCT		dual oxidase 2 precursor							53.0	48.0	50.0					15																	45402882		2198	4294	6492	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45402882G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.909C>T	15.37:g.45402882G>A						DUOX2_uc001zun.2_Silent_p.P303P	p.P303P	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	8	1112	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	303			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.909C>T	CCDS10117.1																																																																																				PASS	0.612	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		6	21	6	21	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54306924	54306924	+	Silent	SNP	A	A	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:54306924A>C	ENST00000260323.11	+	1	1824	c.1824A>C	c.(1822-1824)ggA>ggC	p.G608G	UNC13C_ENST00000545554.1_Silent_p.G608G|UNC13C_ENST00000537900.1_Silent_p.G608G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	608					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G608G(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTGAATGGAGGTGTTCAGG	0.512																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(1822-1824)GGA>GGC		unc-13 homolog C							138.0	134.0	135.0					15																	54306924		2009	4164	6173	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306924A>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1824A>C	15.37:g.54306924A>C							p.G608G	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1824	+			608					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1824A>C	CCDS45264.1																																																																																				PASS	0.512	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		15	63	15	63	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63014652	63014652	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:63014652C>T	ENST00000561311.1	+	25	3322	c.3092C>T	c.(3091-3093)aCc>aTc	p.T1031I	TLN2_ENST00000306829.6_Missense_Mutation_p.T1031I			Q9Y4G6	TLN2_HUMAN	talin 2	1031	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T1031I(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AACCTGGCCACCAGCTTGGCG	0.627																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(3091-3093)ACC>ATC		talin 2							55.0	49.0	51.0					15																	63014652		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63014652C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3092C>T	15.37:g.63014652C>T	ENSP00000453508:p.Thr1031Ile						p.T1031I	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			23	3092	+			1031			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3092C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322181	0.81580	.	.	ENSG00000171914	ENST00000306829	T	0.69040	-0.37	5.36	5.36	0.76844	.	0.093837	0.64402	D	0.000001	T	0.66684	0.2814	L	0.55743	1.74	0.80722	D	1	B	0.27068	0.167	B	0.32677	0.15	T	0.61941	-0.6959	10	0.30078	T	0.28	-34.3092	19.4599	0.94912	0.0:1.0:0.0:0.0	.	1031	Q9Y4G6	TLN2_HUMAN	I	1031	ENSP00000303476:T1031I	ENSP00000303476:T1031I	T	+	2	0	TLN2	60801944	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.728000	0.84847	2.671000	0.90904	0.563000	0.77884	ACC		PASS	0.627	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			7	25	7	25	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63045984	63045984	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:63045984G>T	ENST00000561311.1	+	35	4575	c.4345G>T	c.(4345-4347)Gtt>Ttt	p.V1449F	TLN2_ENST00000306829.6_Missense_Mutation_p.V1449F			Q9Y4G6	TLN2_HUMAN	talin 2	1449					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V1449F(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCATACTTGGTTGGCATCTC	0.577																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(4345-4347)GTT>TTT		talin 2							111.0	90.0	97.0					15																	63045984		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63045984G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4345G>T	15.37:g.63045984G>T	ENSP00000453508:p.Val1449Phe					TLN2_uc002alc.3_5'UTR	p.V1449F	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			33	4345	+			1449					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4345G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105173	0.94245	.	.	ENSG00000171914	ENST00000306829	T	0.72615	-0.67	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.85388	0.5685	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.63793	0.918	D	0.86507	0.1807	10	0.87932	D	0	-26.6815	20.2422	0.98381	0.0:0.0:1.0:0.0	.	1449	Q9Y4G6	TLN2_HUMAN	F	1449	ENSP00000303476:V1449F	ENSP00000303476:V1449F	V	+	1	0	TLN2	60833276	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	9.720000	0.98763	2.782000	0.95742	0.655000	0.94253	GTT		PASS	0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			6	52	6	52	---	---	---	---
PML	5371	broad.mit.edu	37	15	74326832	74326832	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:74326832G>T	ENST00000268058.3	+	7	1767	c.1671G>T	c.(1669-1671)gtG>gtT	p.V557V	PML_ENST00000359928.4_Missense_Mutation_p.W423L|PML_ENST00000564428.1_Silent_p.V509V|PML_ENST00000395135.3_Silent_p.V557V|PML_ENST00000435786.2_Silent_p.V557V|PML_ENST00000436891.3_Missense_Mutation_p.W560L|PML_ENST00000569965.1_Missense_Mutation_p.W560L|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Silent_p.V509V|PML_ENST00000268059.6_Silent_p.V557V|PML_ENST00000563500.1_3'UTR|PML_ENST00000565898.1_Silent_p.V509V|PML_ENST00000567543.1_Missense_Mutation_p.W423L|PML_ENST00000569477.1_Silent_p.V557V	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	557	Sumo interaction motif (SIM).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V557V(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AACGCGTTGTGGTGATCAGCA	0.582			T	"""RARA, PAX5"""	"""APL, ALL"""																																	uc002awv.2				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		3	Substitution - coding silent(3)		lung(3)	central_nervous_system(2)|kidney(2)|breast(1)	5						c.(1669-1671)GTG>GTT		promyelocytic leukemia protein isoform 1							166.0	140.0	149.0					15																	74326832		2198	4297	6495	SO:0001819	synonymous_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74326832G>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1671G>T	15.37:g.74326832G>T						PML_uc002awm.2_Silent_p.V557V|PML_uc002awl.2_Missense_Mutation_p.W423L|PML_uc002awj.1_3'UTR|PML_uc002awk.2_Silent_p.V557V|PML_uc002awn.2_Missense_Mutation_p.W560L|PML_uc002awo.2_Silent_p.V509V|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.W560L|PML_uc002awr.2_Silent_p.V557V|PML_uc002aws.2_Silent_p.V509V|PML_uc002awt.2_Missense_Mutation_p.W423L|PML_uc002awu.2_Silent_p.V509V|PML_uc010ule.1_Silent_p.V118V|PML_uc002awx.2_Missense_Mutation_p.W270L|PML_uc002awy.2_5'UTR	p.V557V	NM_033238	NP_150241	P29590	PML_HUMAN			7	1811	+			557	VVVI->AAAS: Abolishes SUMO1 binding.		Interaction with SUMO1 and sumoylated proteins.		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.1671G>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024689	0.35701	.	.	ENSG00000140464	ENST00000359928;ENST00000436891	.	.	.	3.96	0.816	0.18768	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.80722	D	1	B;B	0.23540	0.087;0.087	B;B	0.20384	0.029;0.02	T	0.31888	-0.9927	7	0.87932	D	0	-27.76	4.8766	0.13658	0.1049:0.0:0.525:0.3701	.	560;423	P29590-4;P29590-14	.;.	L	423;560	.	ENSP00000353004:W423L	W	+	2	0	PML	72113885	1.000000	0.71417	0.909000	0.35828	0.316000	0.28119	0.651000	0.24873	0.065000	0.16485	-0.314000	0.08810	TGG		PASS	0.582	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		8	145	8	145	---	---	---	---
TMED3	23423	broad.mit.edu	37	15	79606180	79606180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:79606180C>T	ENST00000299705.5	+	2	438	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	TMED3_ENST00000424155.2_Nonsense_Mutation_p.Q84*|TMED3_ENST00000536821.1_Nonsense_Mutation_p.Q84*	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	84	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q84*(1)		large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						AACGAAGAAGCAGTACGACAG	0.473																																						uc002beu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(250-252)CAG>TAG		transmembrane emp24 domain containing 3							170.0	147.0	155.0					15																	79606180		2196	4293	6489	SO:0001587	stop_gained	23423				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane		g.chr15:79606180C>T	BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.250C>T	15.37:g.79606180C>T	ENSP00000299705:p.Gln84*					TMED3_uc010unj.1_Nonsense_Mutation_p.Q84*|TMED3_uc002bev.2_RNA	p.Q84*	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN			2	351	+			84			Lumenal (Potential).|GOLD.		A8K069|B4DN05|Q2T9F8	Nonsense_Mutation	SNP	ENST00000299705.5	37	c.250C>T	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398425	0.97533	.	.	ENSG00000166557	ENST00000299705;ENST00000424155;ENST00000536821;ENST00000543455	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-12.9414	15.505	0.75731	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000299705:Q84X	Q	+	1	0	TMED3	77393235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.246000	0.78247	2.578000	0.87016	0.655000	0.94253	CAG		PASS	0.473	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		20	74	20	74	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80872871	80872871	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:80872871G>T	ENST00000303329.4	+	16	1898	c.1733G>T	c.(1732-1734)cGt>cTt	p.R578L	ARNT2_ENST00000527771.1_Missense_Mutation_p.R567L|hsa-mir-5572_ENST00000583188.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.R567L|RP11-379K22.3_ENST00000603875.1_RNA	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R578L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ACAGGGAGTCGTCCGCCCTTT	0.562																																						uc002bfr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1732-1734)CGT>CTT		aryl hydrocarbon receptor nuclear translocator							80.0	69.0	73.0					15																	80872871		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80872871G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1733G>T	15.37:g.80872871G>T	ENSP00000307479:p.Arg578Leu					ARNT2_uc010unm.1_Missense_Mutation_p.R567L|ARNT2_uc002bfs.2_Missense_Mutation_p.R567L	p.R578L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		16	1899	+			578					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1733G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159116	0.57368	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.58940	0.3	5.02	5.02	0.67125	.	0.205292	0.42682	D	0.000679	T	0.58250	0.2109	M	0.62723	1.935	0.80722	D	1	B	0.26512	0.151	B	0.26864	0.074	T	0.58295	-0.7661	10	0.44086	T	0.13	.	18.32	0.90234	0.0:0.0:1.0:0.0	.	578	Q9HBZ2	ARNT2_HUMAN	L	567;578	ENSP00000307479:R578L	ENSP00000307479:R578L	R	+	2	0	ARNT2	78659926	1.000000	0.71417	0.839000	0.33178	0.378000	0.30076	8.606000	0.90888	2.328000	0.79073	0.561000	0.74099	CGT		PASS	0.562	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			7	38	7	38	---	---	---	---
ISG20	3669	broad.mit.edu	37	15	89182735	89182735	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:89182735G>C	ENST00000306072.5	+	2	496	c.138G>C	c.(136-138)gaG>gaC	p.E46D	ISG20_ENST00000560741.1_Missense_Mutation_p.E46D|ISG20_ENST00000379224.5_Missense_Mutation_p.E46D	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	46					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)	p.E46D(1)		large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TCCGGCCTGAGGGAGAGATCA	0.637																																						uc002bmv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GAG>GAC		interferon stimulated exonuclease							68.0	68.0	68.0					15																	89182735		2200	4299	6499	SO:0001583	missense	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89182735G>C	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"""interferon stimulated gene (20kD)"""			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.138G>C	15.37:g.89182735G>C	ENSP00000306565:p.Glu46Asp					ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	p.E46D	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		2	431	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		46					O00441|O00586	Missense_Mutation	SNP	ENST00000306072.5	37	c.138G>C	CCDS10345.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931245	0.34096	.	.	ENSG00000172183	ENST00000306072;ENST00000379224	T;T	0.29397	1.57;1.57	4.81	0.0585	0.14328	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	4.762410	0.00810	N	0.001481	T	0.17874	0.0429	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12451	-1.0547	10	0.19147	T	0.46	-16.7443	4.9558	0.14038	0.3741:0.1551:0.4708:0.0	.	46	Q96AZ6	ISG20_HUMAN	D	46	ENSP00000306565:E46D;ENSP00000368526:E46D	ENSP00000306565:E46D	E	+	3	2	ISG20	86983739	0.000000	0.05858	0.133000	0.22050	0.972000	0.66771	-0.725000	0.04942	0.098000	0.17522	0.561000	0.74099	GAG		PASS	0.637	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2	NM_002201		7	46	7	46	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100339997	100339997	+	RNA	SNP	G	G	C	rs201407168		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:100339997G>C	ENST00000341853.1	-	0	929					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GTGTCTTCTCGTTCCCACGCG	0.612																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							35.0	30.0	32.0					15																	100339997		874	1991	2865			196968							g.chr15:100339997G>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339997G>C						C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|uc002bvq.2_RNA|uc002bvt.1_5'Flank		NR_003260						4		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.930C>G																																																																																					PASS	0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	43	4	43	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101528851	101528851	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:101528851C>A	ENST00000388948.3	+	5	805	c.446C>A	c.(445-447)cCc>cAc	p.P149H	LRRK1_ENST00000284395.5_Missense_Mutation_p.P146H|LRRK1_ENST00000532029.2_Missense_Mutation_p.P149H	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.P149H(1)|p.P122H(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTGCAGTCCCCAGCGGCTT	0.617																																						uc002bwr.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(445-447)CCC>CAC		leucine-rich repeat kinase 1							95.0	97.0	96.0					15																	101528851		1985	4172	6157	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528851C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.446C>A	15.37:g.101528851C>A	ENSP00000373600:p.Pro149His					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.P149H	p.P149H	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	765	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		149						Missense_Mutation	SNP	ENST00000388948.3	37	c.446C>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113476	0.20795	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.72051	-0.09;-0.62;-0.09	5.5	-0.7	0.11273	Ankyrin repeat-containing domain (4);	0.922251	0.09149	N	0.841822	T	0.55369	0.1916	L	0.39020	1.185	0.29057	N	0.884163	B;P	0.44380	0.304;0.834	B;B	0.42386	0.174;0.386	T	0.50013	-0.8877	10	0.15066	T	0.55	.	5.1098	0.14804	0.4822:0.3401:0.102:0.0757	.	149;149	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	H	149;146;149	ENSP00000373600:P149H;ENSP00000284395:P146H;ENSP00000433268:P149H	ENSP00000284395:P146H	P	+	2	0	LRRK1	99346374	0.008000	0.16893	0.997000	0.53966	0.928000	0.56348	-0.006000	0.12833	-0.019000	0.14055	0.650000	0.86243	CCC		PASS	0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		7	130	7	130	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2160565	2160565	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr16:2160565G>A	ENST00000262304.4	-	15	4811	c.4603C>T	c.(4603-4605)Cgc>Tgc	p.R1535C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1535C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1535	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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.R1535C(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						GCCTCGCTGCGGCTCACCTCA	0.657																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(4603-4605)CGC>TGC		polycystin 1 isoform 1 precursor							37.0	41.0	40.0					16																	2160565		2196	4290	6486	SO:0001583	missense	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.chr16:2160565G>A	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.4603C>T	16.37:g.2160565G>A	ENSP00000262304:p.Arg1535Cys					PKD1_uc002cot.1_Missense_Mutation_p.R1535C	p.R1535C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	4812	-			1535			Extracellular (Potential).|PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4603C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.214355	0.39102	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.61510	0.1;0.1	5.36	5.36	0.76844	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.680368	0.14753	N	0.300431	T	0.70029	0.3177	M	0.73598	2.24	0.33600	D	0.602192	D;D	0.76494	0.999;0.999	P;D	0.64877	0.854;0.93	T	0.77571	-0.2538	10	0.62326	D	0.03	.	5.4323	0.16460	0.1183:0.0:0.558:0.3237	.	1535;1535	P98161-3;P98161	.;PKD1_HUMAN	C	1535	ENSP00000262304:R1535C;ENSP00000399501:R1535C	ENSP00000262304:R1535C	R	-	1	0	PKD1	2100566	0.425000	0.25498	0.952000	0.39060	0.272000	0.26649	0.764000	0.26532	2.519000	0.84933	0.550000	0.68814	CGC		PASS	0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			12	18	12	18	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19481080	19481081	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr16:19481080_19481081GG>CT	ENST00000396229.2	+	10	2464_2465	c.1715_1716GG>CT	c.(1714-1716)tGG>tCT	p.W572S	TMC5_ENST00000561503.1_Missense_Mutation_p.W213S|TMC5_ENST00000219821.5_Missense_Mutation_p.W326S|TMC5_ENST00000381414.4_Missense_Mutation_p.W572S|TMC5_ENST00000541464.1_Missense_Mutation_p.W572S|TMC5_ENST00000542583.2_Missense_Mutation_p.W572S|TMC5_ENST00000564959.1_Missense_Mutation_p.W255S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	572					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.W326S(2)|p.W572S(2)|p.W326C(1)|p.W572C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATCTTTTGCTGGGACTTCACTG	0.45																																						uc002dgc.3																			6	Substitution - Missense(6)		lung(6)	skin(1)	1						c.(1714-1716)TGG>TCG|c.(1714-1716)TGG>TGT		transmembrane channel-like 5 isoform a																																				SO:0001583	missense	79838					integral to membrane		g.chr16:19481080G>C|g.chr16:19481081G>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	Exception_encountered	16.37:g.19481080_19481081delinsCT	ENSP00000379531:p.Trp572Ser					TMC5_uc010vaq.1_Missense_Mutation_p.W572S|TMC5_uc002dgb.3_Missense_Mutation_p.W572S|TMC5_uc010var.1_Missense_Mutation_p.W572S|TMC5_uc002dgd.1_Missense_Mutation_p.W326S|TMC5_uc002dge.3_Missense_Mutation_p.W326S|TMC5_uc002dgf.3_Missense_Mutation_p.W255S|TMC5_uc002dgg.3_Missense_Mutation_p.W213S|TMC5_uc010vaq.1_Missense_Mutation_p.W572C|TMC5_uc002dgb.3_Missense_Mutation_p.W572C|TMC5_uc010var.1_Missense_Mutation_p.W572C|TMC5_uc002dgd.1_Missense_Mutation_p.W326C|TMC5_uc002dge.3_Missense_Mutation_p.W326C|TMC5_uc002dgf.3_Missense_Mutation_p.W255C|TMC5_uc002dgg.3_Missense_Mutation_p.W213C	p.W572S|p.W572C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			10	2464|2465	+			572			Cytoplasmic (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1715G>C|c.1716G>T	CCDS45431.1																																																																																				PASS	0.450	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		11|13	67	11	67	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28841356	28841356	+	Silent	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr16:28841356G>C	ENST00000336783.4	+	8	1178	c.1011G>C	c.(1009-1011)cgG>cgC	p.R337R	ATXN2L_ENST00000395547.2_Silent_p.R337R|ATXN2L_ENST00000564304.1_Silent_p.R337R|ATXN2L_ENST00000382686.4_Silent_p.R337R|ATXN2L_ENST00000570200.1_Silent_p.R337R|ATXN2L_ENST00000340394.8_Silent_p.R337R|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Silent_p.R337R	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	337				R -> RG (in Ref. 8; AAB19201). {ECO:0000305}.	regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.R337R(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCTCAGGGCGGGAGAGCCCCA	0.612																																						uc002drc.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1009-1011)CGG>CGC		ataxin 2 related protein isoform A							32.0	28.0	30.0					16																	28841356		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28841356G>C		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1011G>C	16.37:g.28841356G>C						uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.R337R|ATXN2L_uc002drb.2_Silent_p.R337R|ATXN2L_uc002dqy.2_Silent_p.R337R|ATXN2L_uc002dra.2_Silent_p.R337R|ATXN2L_uc002dqz.2_Silent_p.R337R|ATXN2L_uc010vdb.1_Silent_p.R337R|ATXN2L_uc002dre.2_Silent_p.R337R|ATXN2L_uc002drf.2_5'UTR	p.R337R	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			8	1179	+			337	R -> RG (in Ref. 6; AAB19201).				A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.1011G>C	CCDS10641.1																																																																																				PASS	0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		4	16	4	16	---	---	---	---
STX1B	112755	broad.mit.edu	37	16	31012876	31012876	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr16:31012876G>T	ENST00000215095.5	-	2	310	c.79C>A	c.(79-81)Cac>Aac	p.H27N	STX1B_ENST00000565419.1_Missense_Mutation_p.H27N	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	27					intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)	p.H27N(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TCCATGAAGTGGTCCCGATCC	0.627																																						uc010cad.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)CAC>AAC		syntaxin 1B							73.0	64.0	67.0					16																	31012876		2197	4300	6497	SO:0001583	missense	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	g.chr16:31012876G>T	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.79C>A	16.37:g.31012876G>T	ENSP00000215095:p.His27Asn					STX1B_uc010vfd.1_Missense_Mutation_p.H27N	p.H27N	NM_052874	NP_443106	P61266	STX1B_HUMAN			2	191	-			27			Cytoplasmic (Potential).		Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	c.79C>A	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399710	0.42512	.	.	ENSG00000099365	ENST00000215095	T	0.20881	2.04	4.84	4.84	0.62591	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.37561	1.115	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05099	-1.0906	10	0.17832	T	0.49	.	16.714	0.85393	0.0:0.0:1.0:0.0	.	27;27	Q2VPS2;P61266	.;STX1B_HUMAN	N	27	ENSP00000215095:H27N	ENSP00000215095:H27N	H	-	1	0	STX1B	30920377	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.152000	0.64882	2.256000	0.74724	0.555000	0.69702	CAC		PASS	0.627	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			6	36	6	36	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3850763	3850763	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:3850763C>A	ENST00000352011.3	-	8	1071	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	ATP2A3_ENST00000359983.3_Silent_p.V339V|ATP2A3_ENST00000309890.7_Silent_p.V339V|ATP2A3_ENST00000397041.3_Silent_p.V339V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.V339V|ATP2A3_ENST00000397035.3_Silent_p.V339V			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	339					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V339V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGGTCTCCACGGACGGCA	0.652																																					GBM(32;29 774 15719 37967)	uc002fxb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1015-1017)GTG>GTT		ATPase, Ca++ transporting, ubiquitous isoform b							95.0	75.0	82.0					17																	3850763		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3850763C>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1017G>T	17.37:g.3850763C>A						ATP2A3_uc002fwx.1_Silent_p.V339V|ATP2A3_uc002fwy.1_Silent_p.V339V|ATP2A3_uc002fwz.1_Silent_p.V339V|ATP2A3_uc002fxa.1_Silent_p.V339V|ATP2A3_uc002fxc.1_Silent_p.V339V|ATP2A3_uc002fxd.1_Silent_p.V339V	p.V339V	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	1168	-			339			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1017G>T	CCDS11041.1																																																																																				PASS	0.652	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		5	59	5	59	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4712418	4712418	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:4712418C>T	ENST00000263088.6	+	5	538	c.407C>T	c.(406-408)gCc>gTc	p.A136V	PLD2_ENST00000572940.1_Missense_Mutation_p.A136V|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	136	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.A136V(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TATTCTCCAGCCCGAGATGCA	0.582																																						uc002fzc.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(406-408)GCC>GTC		phospholipase D2	Choline(DB00122)						108.0	113.0	111.0					17																	4712418		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712418C>T	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.407C>T	17.37:g.4712418C>T	ENSP00000263088:p.Ala136Val					PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.A136V	p.A136V	NM_002663	NP_002654	O14939	PLD2_HUMAN			5	508	+			136			PX.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.407C>T	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.288100	0.01387	.	.	ENSG00000129219	ENST00000263088	T	0.06218	3.33	5.63	3.56	0.40772	Phox homologous domain (5);	0.823073	0.11498	N	0.557995	T	0.04092	0.0114	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.46898	-0.9158	10	0.16420	T	0.52	-5.5909	9.0025	0.36090	0.1682:0.6698:0.162:0.0	.	136;136	O14939-2;O14939	.;PLD2_HUMAN	V	136	ENSP00000263088:A136V	ENSP00000263088:A136V	A	+	2	0	PLD2	4659382	0.466000	0.25823	0.019000	0.16419	0.034000	0.12701	0.520000	0.22878	0.673000	0.31224	0.561000	0.74099	GCC		PASS	0.582	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		29	76	29	76	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:7577534C>A	ENST00000269305.4	-	7	936	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000420246.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGATGGGCCTCCGGTTCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(745-747)AGG>AGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							155.0	113.0	127.0					17																	7577534		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577534C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.747G>T	17.37:g.7577534C>A	ENSP00000269305:p.Arg249Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S	p.R249S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	941	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.747G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344264	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	rs28934571	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	30	15	30	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7806032	7806032	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:7806032C>A	ENST00000330494.7	+	21	3507	c.3357C>A	c.(3355-3357)atC>atA	p.I1119I	CHD3_ENST00000358181.4_Silent_p.I1119I|CHD3_ENST00000380358.4_Silent_p.I1178I	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1119	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I1119I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGGAGGCCATCGATCGGTTTA	0.547																																						uc002gje.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(3355-3357)ATC>ATA		chromodomain helicase DNA binding protein 3							143.0	129.0	134.0					17																	7806032		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806032C>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3357C>A	17.37:g.7806032C>A						CHD3_uc002gjd.2_Silent_p.I1178I|CHD3_uc002gjf.2_Silent_p.I1119I|CHD3_uc002gjh.2_5'Flank	p.I1119I	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			21	3507	+		Prostate(122;0.202)	1119			Helicase C-terminal.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.3357C>A	CCDS32554.1																																																																																				PASS	0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	53	4	53	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10298626	10298626	+	Missense_Mutation	SNP	C	C	G	rs61730807		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:10298626C>G	ENST00000403437.2	-	34	4880	c.4786G>C	c.(4786-4788)Gtc>Ctc	p.V1596L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1596					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.V1596L(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTCTCCACGACTCTAGTGTGG	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(4786-4788)GTC>CTC		myosin, heavy chain 8, skeletal muscle,							210.0	174.0	186.0					17																	10298626		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298626C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4786G>C	17.37:g.10298626C>G	ENSP00000384330:p.Val1596Leu					uc002gml.1_Intron	p.V1596L	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	4881	-			1596			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4786G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926188	0.34002	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	4.85	2.72	0.32119	Myosin tail (1);	0.196255	0.24742	U	0.035970	T	0.69424	0.3109	L	0.44542	1.39	0.09310	N	0.999992	B	0.02656	0.0	B	0.10450	0.005	T	0.65001	-0.6274	10	0.66056	D	0.02	.	11.6323	0.51183	0.0:0.8312:0.0:0.1688	.	1596	P13535	MYH8_HUMAN	L	1596	ENSP00000384330:V1596L	ENSP00000252173:V1596L	V	-	1	0	MYH8	10239351	0.000000	0.05858	0.021000	0.16686	0.941000	0.58515	-0.705000	0.05052	1.258000	0.44101	0.650000	0.86243	GTC		PASS	0.428	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		11	43	11	43	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11514974	11514974	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:11514974G>T	ENST00000262442.4	+	4	849	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D261Y|DNAH9_ENST00000579828.1_Missense_Mutation_p.D261Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	261	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D261Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGTATGAAGATCTGAAATA	0.458																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(781-783)GAT>TAT		dynein, axonemal, heavy chain 9 isoform 2							126.0	115.0	119.0					17																	11514974		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11514974G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.781G>T	17.37:g.11514974G>T	ENSP00000262442:p.Asp261Tyr					DNAH9_uc002gnd.1_Missense_Mutation_p.D261Y	p.D261Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	4	849	+		Breast(5;0.0122)|all_epithelial(5;0.131)	261			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.781G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866352	0.51588	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56275	0.47;0.47	5.59	5.59	0.84812	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.63843	1.955	0.80722	D	1	P;D	0.54397	0.91;0.966	P;P	0.61477	0.77;0.889	T	0.71580	-0.4550	10	0.87932	D	0	.	19.1905	0.93664	0.0:0.0:1.0:0.0	.	261;261	Q9NYC9;E7EP17	DYH9_HUMAN;.	Y	261	ENSP00000262442:D261Y;ENSP00000414874:D261Y	ENSP00000262442:D261Y	D	+	1	0	DNAH9	11455699	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	3.888000	0.56204	2.635000	0.89317	0.609000	0.83330	GAT		PASS	0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		12	45	12	45	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18149711	18149711	+	Silent	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:18149711G>A	ENST00000327031.4	-	24	3342	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	FLII_ENST00000379450.4_Silent_p.I953I|FLII_ENST00000579294.1_Silent_p.I1028I|FLII_ENST00000545457.2_Silent_p.I984I|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1039					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.I1039I(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)					CCCGGTGGATGATGAACTTCC	0.632																																						uc002gsr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3115-3117)ATC>ATT		flightless I homolog							166.0	161.0	163.0					17																	18149711		2203	4299	6502	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149711G>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.3117C>T	17.37:g.18149711G>A						FLII_uc002gsq.1_Silent_p.I910I|FLII_uc010cpy.1_Silent_p.I1028I|FLII_uc010vxn.1_Silent_p.I1008I|FLII_uc010vxo.1_Silent_p.I984I	p.I1039I	NM_002018	NP_002009	Q13045	FLII_HUMAN			24	3168	-	all_neural(463;0.228)		1039					B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.3117C>T	CCDS11192.1																																																																																				PASS	0.632	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		15	106	15	106	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18682490	18682490	+	Missense_Mutation	SNP	T	T	C	rs373632534		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:18682490T>C	ENST00000395665.4	+	14	3259	c.3038T>C	c.(3037-3039)gTt>gCt	p.V1013A	FBXW10_ENST00000395667.1_Missense_Mutation_p.V1012A|TVP23B_ENST00000307767.8_5'Flank|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.V960A|FBXW10_ENST00000308799.4_Missense_Mutation_p.V1022A|TVP23B_ENST00000574226.1_5'Flank			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1013								p.V1012A(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ACTGGAGTGGTTGATCCAGGA	0.502																																						uc002guk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3037-3039)GTT>GCT		F-box and WD-40 domain protein 10		T	ALA/VAL	0,3810		0,0,1905	38.0	36.0	37.0		3035	0.6	0.0	17		37	2,7178		1,0,3589	no	missense	FBXW10	NM_031456.3	64	1,0,5494	CC,CT,TT		0.0279,0.0,0.0182	benign	1012/1052	18682490	2,10988	1905	3590	5495	SO:0001583	missense	10517							g.chr17:18682490T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.3038T>C	17.37:g.18682490T>C	ENSP00000379025:p.Val1013Ala					FBXW10_uc002guj.2_Missense_Mutation_p.V1012A|FBXW10_uc002gul.2_Missense_Mutation_p.V1022A|FBXW10_uc010cqh.1_Missense_Mutation_p.V960A|FAM18B_uc002gum.2_5'Flank	p.V1013A	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			14	3270	+			1013					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.3038T>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	0.041	-1.282694	0.01398	0.0	2.79E-4	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	3.38	0.644	0.17776	.	0.289856	0.17694	U	0.165158	T	0.60025	0.2237	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.14012	0.006;0.009;0.004;0.009	B;B;B;B	0.16722	0.016;0.006;0.007;0.006	T	0.38779	-0.9645	10	0.11182	T	0.66	.	6.2941	0.21077	0.0:0.609:0.0:0.391	.	960;1022;1013;1012	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	1012;1022;960;1013	ENSP00000379026:V1012A;ENSP00000310382:V1022A;ENSP00000306937:V960A;ENSP00000379025:V1013A	ENSP00000306937:V960A	V	+	2	0	FBXW10	18623215	0.000000	0.05858	0.003000	0.11579	0.753000	0.42808	-0.025000	0.12413	-0.009000	0.14296	-0.526000	0.04340	GTT		PASS	0.502	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		9	40	9	40	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27042864	27042864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:27042864C>A	ENST00000395245.3	-	4	894	c.268G>T	c.(268-270)Gag>Tag	p.E90*	RAB34_ENST00000301043.6_Nonsense_Mutation_p.E90*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.E90*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.E147*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.E68*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.E148*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.E90*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.E91*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.E90*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	90					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.E90*(1)|p.E148*(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CGTTCCATCTCGAAGTCCACT	0.547																																					Pancreas(175;216 2049 29940 32498 41589)	uc002hce.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(268-270)GAG>TAG		Ras-related protein RAB34 isoform 1							188.0	181.0	184.0					17																	27042864		2203	4300	6503	SO:0001587	stop_gained	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27042864C>A	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.268G>T	17.37:g.27042864C>A	ENSP00000378666:p.Glu90*					RAB34_uc002hcg.2_Nonsense_Mutation_p.E90*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E91*|RAB34_uc010was.1_Nonsense_Mutation_p.E147*|RAB34_uc010wat.1_Nonsense_Mutation_p.E147*|RAB34_uc002hch.2_Nonsense_Mutation_p.E90*|RAB34_uc010wau.1_Nonsense_Mutation_p.E68*|RAB34_uc010wav.1_Nonsense_Mutation_p.E148*	p.E90*	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN			4	892	-	Lung NSC(42;0.00431)		90					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Nonsense_Mutation	SNP	ENST00000395245.3	37	c.268G>T	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633964	0.96682	.	.	ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-28.6489	18.3645	0.90386	0.0:1.0:0.0:0.0	.	.	.	.	X	148;147;90;90;68;113;91;90;113;91;90;90	.	ENSP00000301043:E90X	E	-	1	0	RAB34	24066991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.476000	0.81055	2.685000	0.91497	0.462000	0.41574	GAG		PASS	0.547	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		5	115	5	115	---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33592328	33592328	+	Silent	SNP	C	C	T	rs149671075	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:33592328C>T	ENST00000299977.4	+	5	2245	c.2097C>T	c.(2095-2097)ccC>ccT	p.P699P	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	699					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.P699P(1)|p.G385E(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TCCCCCCTCCCTCAGACCAGT	0.493													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0					uc002hjf.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2095-2097)CCC>CCT		schlafen family member 5		C		3,4403	6.2+/-15.9	0,3,2200	105.0	104.0	104.0		2097	1.1	0.0	17	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	SLFN5	NM_144975.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		699/892	33592328	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	162394				cell differentiation		ATP binding	g.chr17:33592328C>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2097C>T	17.37:g.33592328C>T						SLFN5_uc010wcg.1_3'UTR	p.P699P	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2214	+		Ovarian(249;0.17)	699					Q08AF2|Q8WU54|Q96A82	Silent	SNP	ENST00000299977.4	37	c.2097C>T	CCDS32619.1																																																																																				PASS	0.493	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		16	63	16	63	---	---	---	---
TUBG2	27175	broad.mit.edu	37	17	40812318	40812318	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:40812318C>A	ENST00000251412.7	+	3	513	c.314C>A	c.(313-315)gCc>gAc	p.A105D		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	105					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.A105D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AACAACTGGGCCAGCGGATTC	0.542																																						uc010wgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)GCC>GAC		tubulin, gamma 2							77.0	78.0	78.0					17																	40812318		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40812318C>A	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.314C>A	17.37:g.40812318C>A	ENSP00000251412:p.Ala105Asp					TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_5'UTR|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_5'UTR	p.A105D	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	3	570	+		Breast(137;0.00116)	105					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.314C>A	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314107	0.81358	.	.	ENSG00000037042	ENST00000251412	T	0.74106	-0.81	4.95	2.92	0.33932	Tubulin/FtsZ, GTPase domain (4);	0.058380	0.64402	D	0.000002	D	0.91566	0.7336	H	0.99619	4.66	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.92366	0.5901	10	0.87932	D	0	-32.8172	10.795	0.46455	0.0:0.7966:0.1314:0.072	.	105	Q9NRH3	TBG2_HUMAN	D	105	ENSP00000251412:A105D	ENSP00000251412:A105D	A	+	2	0	TUBG2	38065844	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.819000	0.69243	0.778000	0.33520	0.561000	0.74099	GCC		PASS	0.542	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		4	44	4	44	---	---	---	---
EFCAB13	124989	broad.mit.edu	37	17	45507265	45507265	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:45507265A>G	ENST00000331493.2	+	24	2987	c.2576A>G	c.(2575-2577)gAc>gGc	p.D859G	EFCAB13_ENST00000517484.1_Missense_Mutation_p.D763G	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	859						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D859G(1)									TTATTGATGGACAAGGACCTT	0.383																																						uc002iln.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(2575-2577)GAC>GGC		hypothetical protein LOC124989							216.0	184.0	195.0					17																	45507265		2203	4300	6503	SO:0001583	missense	124989						calcium ion binding	g.chr17:45507265A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2576A>G	17.37:g.45507265A>G	ENSP00000332111:p.Asp859Gly					C17orf57_uc002ilm.2_Missense_Mutation_p.D763G	p.D859G	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			24	2987	+			859					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.2576A>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	.	7.700	0.692814	0.15039	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.23552	1.9;1.9	2.63	1.54	0.23209	.	0.771739	0.11273	N	0.581220	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.009;0.017	B;B	0.12837	0.008;0.008	T	0.26503	-1.0101	10	0.38643	T	0.18	0.3706	4.4246	0.11497	0.839:0.0:0.161:0.0	.	859;763	Q8IY85;G3V128	CQ057_HUMAN;.	G	859;763	ENSP00000332111:D859G;ENSP00000430048:D763G	ENSP00000332111:D859G	D	+	2	0	C17orf57	42862264	0.005000	0.15991	0.001000	0.08648	0.437000	0.31866	2.127000	0.42035	0.447000	0.26695	0.248000	0.18094	GAC		PASS	0.383	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		3	45	3	45	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46629716	46629716	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:46629716T>C	ENST00000470495.1	-	1	1568	c.121A>G	c.(121-123)Acg>Gcg	p.T41A	HOXB3_ENST00000490677.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_5'UTR|HOXB3_ENST00000311626.4_Missense_Mutation_p.T41A|HOXB3_ENST00000489475.1_5'UTR|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.T41A|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.T41A|HOXB-AS1_ENST00000435312.1_RNA			P14651	HXB3_HUMAN	homeobox B3	41					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T41A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCCAGGTGCGTGGCGGCCTGA	0.647																																						uc002inn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)ACG>GCG		homeobox B3							28.0	34.0	32.0					17																	46629716		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629716T>C		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.121A>G	17.37:g.46629716T>C	ENSP00000417207:p.Thr41Ala					HOXB3_uc010wlm.1_5'UTR|HOXB3_uc010dbf.2_Missense_Mutation_p.T41A|HOXB3_uc010dbg.2_Missense_Mutation_p.T41A|HOXB3_uc002ino.2_Missense_Mutation_p.T41A|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_5'UTR	p.T41A	NM_002146	NP_002137	P14651	HXB3_HUMAN			1	521	-			41					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.121A>G	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	T	0.730	-0.780118	0.02929	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	3.94	2.85	0.33270	.	0.394960	0.24899	U	0.034707	T	0.68311	0.2987	N	0.03050	-0.425	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54642	-0.8263	10	0.21014	T	0.42	.	2.9632	0.05899	0.296:0.1962:0.0:0.5078	.	41	P14651	HXB3_HUMAN	A	41	ENSP00000417207:T41A;ENSP00000308252:T41A;ENSP00000420595:T41A;ENSP00000418892:T41A	ENSP00000308252:T41A	T	-	1	0	HOXB3	43984715	0.034000	0.19679	0.998000	0.56505	0.001000	0.01503	0.189000	0.17037	0.667000	0.31107	-0.441000	0.05720	ACG		PASS	0.647	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			3	25	3	25	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008357	50008357	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:50008357C>A	ENST00000285273.4	-	4	1383	c.272G>T	c.(271-273)gGc>gTc	p.G91V	CA10_ENST00000442502.2_Missense_Mutation_p.G91V|CA10_ENST00000340813.6_Missense_Mutation_p.G97V|CA10_ENST00000570565.1_Missense_Mutation_p.G16V|CA10_ENST00000451037.2_Missense_Mutation_p.G91V	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TACCTTCCTGCCCCCCGTGTT	0.493																																						uc002itw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(271-273)GGC>GTC		carbonic anhydrase X							264.0	257.0	259.0					17																	50008357		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:50008357C>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.272G>T	17.37:g.50008357C>A	ENSP00000285273:p.Gly91Val					CA10_uc002itv.3_Missense_Mutation_p.G97V|CA10_uc002itx.3_Missense_Mutation_p.G91V|CA10_uc002ity.3_Missense_Mutation_p.G91V|CA10_uc002itz.2_Missense_Mutation_p.G91V	p.G91V	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1258	-			91					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.272G>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349786	0.82132	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.93	5.93	0.95920	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.63428	1.95	0.80722	D	1	P;D	0.61080	0.954;0.989	P;D	0.65233	0.858;0.933	T	0.79718	-0.1686	9	.	.	.	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	91;97	Q9NS85;Q68D28	CAH10_HUMAN;.	V	91;91;91;97	ENSP00000390666:G91V;ENSP00000285273:G91V;ENSP00000405388:G91V;ENSP00000340363:G97V	.	G	-	2	0	CA10	47363356	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.298000	0.78815	2.826000	0.97356	0.655000	0.94253	GGC		PASS	0.493	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		20	117	20	117	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60042580	60042580	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:60042580G>T	ENST00000397786.2	-	20	4707	c.4631C>A	c.(4630-4632)tCc>tAc	p.S1544Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1544	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S1544Y(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTCAAGTTGGAGGATGATGA	0.418																																						uc002izo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(4630-4632)TCC>TAC		mediator complex subunit 13							155.0	148.0	150.0					17																	60042580		2015	4187	6202	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60042580G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4631C>A	17.37:g.60042580G>T	ENSP00000380888:p.Ser1544Tyr						p.S1544Y	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			20	4708	-			1544			Ser-rich.		B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.4631C>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901154	0.52227	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75154	-0.91	5.78	5.78	0.91487	.	0.406223	0.26820	N	0.022327	T	0.69477	0.3115	L	0.34521	1.04	0.43930	D	0.996587	P	0.37955	0.612	B	0.37833	0.259	T	0.71728	-0.4505	10	0.62326	D	0.03	-26.3154	20.0174	0.97485	0.0:0.0:1.0:0.0	.	1544	Q9UHV7	MED13_HUMAN	Y	1544;1543	ENSP00000380888:S1544Y	ENSP00000262436:S1543Y	S	-	2	0	MED13	57397362	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	6.879000	0.75572	2.734000	0.93682	0.655000	0.94253	TCC		PASS	0.418	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		6	72	6	72	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62036742	62036742	+	Silent	SNP	G	G	A	rs368811155		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:62036742G>A	ENST00000435607.1	-	12	1978	c.1902C>T	c.(1900-1902)ccC>ccT	p.P634P	SCN4A_ENST00000578147.1_Silent_p.P634P	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	634					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P634P(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATACTCGTAGGGGTCCATGG	0.572																																						uc002jds.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1900-1902)CCC>CCT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)	G		0,4120		0,0,2060	84.0	86.0	85.0		1902	4.7	1.0	17		85	4,8450		0,4,4223	no	coding-synonymous	SCN4A	NM_000334.4		0,4,6283	AA,AG,GG		0.0473,0.0,0.0318		634/1837	62036742	4,12570	2060	4227	6287	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036742G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1902C>T	17.37:g.62036742G>A							p.P634P	NM_000334	NP_000325	P35499	SCN4A_HUMAN			12	1979	-			634			II.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.1902C>T	CCDS45761.1																																																																																				PASS	0.572	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		8	38	8	38	---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74622817	74622817	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr17:74622817G>T	ENST00000156626.7	-	5	1426	c.1227C>A	c.(1225-1227)tcC>tcA	p.S409S	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	409					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.S409S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCCGTAGAAGGATGTCCGAG	0.532																																						uc002jsh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1225-1227)TCC>TCA		sialyltransferase 7A							248.0	258.0	255.0					17																	74622817		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622817G>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1227C>A	17.37:g.74622817G>T						ST6GALNAC1_uc002jsi.2_Silent_p.S277S|ST6GALNAC1_uc002jsj.2_RNA	p.S409S	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			5	1401	-			409			Lumenal (Potential).		Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.1227C>A	CCDS11748.1																																																																																				PASS	0.532	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		11	323	11	323	---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2892094	2892094	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr18:2892094C>A	ENST00000254528.3	+	4	2128	c.1969C>A	c.(1969-1971)Ccg>Acg	p.P657T		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	657					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.P657T(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGACACCCTGCCGTCCCCCCA	0.552																																						uc002kln.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1969-1971)CCG>ACG		elastin microfibril interfacer 2 precursor							58.0	56.0	57.0					18																	2892094		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892094C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1969C>A	18.37:g.2892094C>A	ENSP00000254528:p.Pro657Thr						p.P657T	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2128	+			657					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1969C>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	5.344	0.248727	0.10130	.	.	ENSG00000132205	ENST00000254528	T	0.38401	1.14	5.03	4.07	0.47477	.	0.562147	0.17418	N	0.174926	T	0.26882	0.0658	L	0.41415	1.275	0.09310	N	1	B	0.22909	0.077	B	0.12156	0.007	T	0.10382	-1.0632	10	0.13108	T	0.6	-20.4275	12.1951	0.54292	0.2645:0.7355:0.0:0.0	.	657	Q9BXX0	EMIL2_HUMAN	T	657	ENSP00000254528:P657T	ENSP00000254528:P657T	P	+	1	0	EMILIN2	2882094	0.009000	0.17119	0.063000	0.19743	0.010000	0.07245	0.971000	0.29396	2.338000	0.79540	0.563000	0.77884	CCG		PASS	0.552	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		6	46	6	46	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13073110	13073110	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr18:13073110C>A	ENST00000325971.8	+	28	5347	c.3754C>A	c.(3754-3756)Cga>Aga	p.R1252R	CEP192_ENST00000430049.2_Silent_p.R1373R|CEP192_ENST00000506447.1_Silent_p.R1848R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1252					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R1252R(1)|p.R1848R(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCACCTACTCGATTATCTTG	0.383																																						uc010xac.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(5542-5544)CGA>AGA		centrosomal protein 192kDa							164.0	162.0	163.0					18																	13073110		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13073110C>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3754C>A	18.37:g.13073110C>A						CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.R1373R|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.R270R|CEP192_uc002krw.2_5'UTR|CEP192_uc002krx.2_5'UTR	p.R1848R	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			30	5622	+			1848					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.5542C>A																																																																																					PASS	0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		6	87	6	87	---	---	---	---
DSG3	1830	broad.mit.edu	37	18	29045295	29045295	+	Missense_Mutation	SNP	G	G	A	rs200258412		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr18:29045295G>A	ENST00000257189.4	+	10	1369	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R429H(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTCATGGGACGTAACGATGGT	0.269													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15437	0.0		0.0	False		,,,				2504	0.0					uc002kws.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1285-1287)CGT>CAT		desmoglein 3 preproprotein							72.0	78.0	76.0					18																	29045295		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29045295G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1286G>A	18.37:g.29045295G>A	ENSP00000257189:p.Arg429His						p.R429H	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		10	1395	+			429			Cadherin 4.|Extracellular (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1286G>A	CCDS11898.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	1.758	-0.487439	0.04352	.	.	ENSG00000134757	ENST00000257189	T	0.60797	0.16	5.82	4.95	0.65309	Cadherin (3);Cadherin-like (1);	0.129478	0.35067	N	0.003479	T	0.35885	0.0947	N	0.16862	0.45	0.35785	D	0.821946	B	0.32365	0.367	B	0.23852	0.049	T	0.44513	-0.9323	10	0.22109	T	0.4	.	10.6928	0.45882	0.1466:0.0:0.8534:0.0	.	429	P32926	DSG3_HUMAN	H	429	ENSP00000257189:R429H	ENSP00000257189:R429H	R	+	2	0	DSG3	27299293	0.931000	0.31567	0.980000	0.43619	0.020000	0.10135	1.440000	0.35024	1.473000	0.48159	0.467000	0.42956	CGT		PASS	0.269	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		9	48	9	48	---	---	---	---
CNDP1	84735	broad.mit.edu	37	18	72245452	72245452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr18:72245452G>T	ENST00000358821.3	+	9	1285	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	CNDP1_ENST00000582365.1_Nonsense_Mutation_p.E310*	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	353						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.E353*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCATGGGATCGAGGGCGCGTT	0.423																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1057-1059)GAG>TAG		carnosinase 1 precursor							115.0	110.0	112.0					18																	72245452		2203	4300	6503	SO:0001587	stop_gained	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72245452G>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1057G>T	18.37:g.72245452G>T	ENSP00000351682:p.Glu353*					CNDP1_uc002lls.2_Nonsense_Mutation_p.E156*	p.E353*	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	9	1268	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	353					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Nonsense_Mutation	SNP	ENST00000358821.3	37	c.1057G>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	41	8.654803	0.98901	.	.	ENSG00000150656	ENST00000358821	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-45.5996	19.2999	0.94140	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000351682:E353X	E	+	1	0	CNDP1	70396432	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	6.370000	0.73114	2.654000	0.90174	0.650000	0.86243	GAG		PASS	0.423	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		4	58	4	58	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2121290	2121290	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:2121290C>A	ENST00000345016.5	-	13	1353	c.1122G>T	c.(1120-1122)atG>atT	p.M374I	AP3D1_ENST00000350812.6_Missense_Mutation_p.M205I|AP3D1_ENST00000355272.6_Missense_Mutation_p.M374I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Missense_Mutation_p.M283I	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	374					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.M374I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACGATCTCCATCAGGTTCT	0.562																																						uc002luz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)ATG>ATT		adaptor-related protein complex 3, delta 1							169.0	181.0	177.0					19																	2121290		2131	4245	6376	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121290C>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1122G>T	19.37:g.2121290C>A	ENSP00000344055:p.Met374Ile					AP3D1_uc002luy.2_Missense_Mutation_p.M283I|AP3D1_uc002lva.2_Missense_Mutation_p.M374I	p.M374I	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1345	-		Hepatocellular(1079;0.137)	374					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1122G>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.632025	0.67015	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.27256	2.65;2.65;1.68;2.65	4.73	4.73	0.59995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.038387	0.85682	D	0.000000	T	0.32734	0.0839	L	0.57536	1.79	0.80722	D	1	P;B;B	0.44281	0.831;0.213;0.232	P;B;B	0.45610	0.487;0.115;0.113	T	0.05241	-1.0897	10	0.25106	T	0.35	-49.5995	16.6679	0.85258	0.0:1.0:0.0:0.0	.	374;374;283	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	I	283;374;374;374;205	ENSP00000349398:M283I;ENSP00000344055:M374I;ENSP00000347416:M374I;ENSP00000342321:M205I	ENSP00000341579:M374I	M	-	3	0	AP3D1	2072290	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.641000	0.83368	2.177000	0.69029	0.462000	0.41574	ATG		PASS	0.562	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			6	83	6	83	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4511796	4511796	+	Missense_Mutation	SNP	G	G	T	rs553614548	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:4511796G>T	ENST00000301286.3	-	3	2133	c.2134C>A	c.(2134-2136)Cta>Ata	p.L712I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	712	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.L712I(1)|p.L640I(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						GTACCAGTTAGGACAGTCTTG	0.592																																						uc002mar.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2134-2136)CTA>ATA		plasma membrane associated protein, S3-12							247.0	262.0	257.0					19																	4511796		2131	4237	6368	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511796G>T	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.2134C>A	19.37:g.4511796G>T	ENSP00000301286:p.Leu712Ile					PLIN4_uc010dub.1_5'Flank	p.L712I	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	2134	-			712			19.|27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2134C>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908705	0.17833	.	.	ENSG00000167676	ENST00000301286	T	0.06768	3.26	4.89	-3.36	0.04913	.	0.461375	0.15968	N	0.235930	T	0.08447	0.0210	M	0.83118	2.625	0.09310	N	1	B	0.26400	0.148	B	0.26310	0.068	T	0.34354	-0.9832	10	0.22109	T	0.4	-7.2167	1.6403	0.02751	0.17:0.2864:0.3319:0.2117	.	712	Q96Q06	PLIN4_HUMAN	I	712	ENSP00000301286:L712I	ENSP00000301286:L712I	L	-	1	2	PLIN4	4462796	0.012000	0.17670	0.000000	0.03702	0.021000	0.10359	-0.210000	0.09345	-0.131000	0.11578	0.205000	0.17691	CTA		PASS	0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		10	344	10	344	---	---	---	---
ARRDC5	645432	broad.mit.edu	37	19	4891523	4891523	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:4891523G>T	ENST00000381781.2	-	3	563	c.564C>A	c.(562-564)gtC>gtA	p.V188V	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	188								p.V188V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TTTGCAAACAGACAGTGCCCT	0.537																																						uc002mbm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)GTC>GTA		arrestin domain containing 5							83.0	77.0	79.0					19																	4891523		2029	4185	6214	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4891523G>T		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.564C>A	19.37:g.4891523G>T							p.V188V	NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	564	-			188						Silent	SNP	ENST00000381781.2	37	c.564C>A	CCDS45929.1																																																																																				PASS	0.537	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		6	32	6	32	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9048368	9048368	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:9048368G>T	ENST00000397910.4	-	5	33466	c.33263C>A	c.(33262-33264)cCa>cAa	p.P11088Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11090	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P11088Q(1)|p.P6721Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAACAGTTGGAGTTGGAAC	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33262-33264)CCA>CAA		mucin 16							80.0	72.0	74.0					19																	9048368		1920	4132	6052	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048368G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33263C>A	19.37:g.9048368G>T	ENSP00000381008:p.Pro11088Gln						p.P11088Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33467	-			11090			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33263C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.216	0.225278	0.09916	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	3.05	-4.9	0.03094	.	.	.	.	.	T	0.06096	0.0158	L	0.40543	1.245	.	.	.	D	0.64830	0.994	P	0.53912	0.737	T	0.09487	-1.0672	8	0.87932	D	0	.	9.0638	0.36451	0.6505:0.0:0.3495:0.0	.	11088	B5ME49	.	Q	11088	ENSP00000381008:P11088Q	ENSP00000381008:P11088Q	P	-	2	0	MUC16	8909368	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.378000	0.01068	-1.014000	0.03379	-0.447000	0.05616	CCA		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	70	5	70	---	---	---	---
ELAVL3	1995	broad.mit.edu	37	19	11565633	11565633	+	Missense_Mutation	SNP	G	G	T	rs144639070		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:11565633G>T	ENST00000359227.3	-	7	1236	c.812C>A	c.(811-813)gCg>gAg	p.A271E	ELAVL3_ENST00000438662.2_Missense_Mutation_p.A264E	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	271					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.A271E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCCACGCCCGCCAGGCCGCT	0.692																																						uc002mry.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(811-813)GCG>GAG		ELAV-like protein 3 isoform 1		G	GLU/ALA,GLU/ALA	1,4405	2.1+/-5.4	0,1,2202	62.0	70.0	67.0		812,791	4.8	1.0	19	dbSNP_134	67	0,8594		0,0,4297	no	missense,missense	ELAVL3	NM_001420.3,NM_032281.2	107,107	0,1,6499	TT,TG,GG		0.0,0.0227,0.0077	benign,benign	271/368,264/361	11565633	1,12999	2203	4297	6500	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11565633G>T		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.812C>A	19.37:g.11565633G>T	ENSP00000352162:p.Ala271Glu					ELAVL3_uc002mrx.1_Missense_Mutation_p.A264E	p.A271E	NM_001420	NP_001411	Q14576	ELAV3_HUMAN			7	1192	-			271					Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.812C>A	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698993	0.88830	2.27E-4	0.0	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.09911	2.93;2.93	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.64997	1.995	0.80722	D	1	P;P	0.42010	0.768;0.754	B;B	0.42030	0.206;0.373	T	0.02150	-1.1205	10	0.38643	T	0.18	.	16.6509	0.85189	0.0:0.0:1.0:0.0	.	271;264	Q14576;Q14576-2	ELAV3_HUMAN;.	E	271;264	ENSP00000352162:A271E;ENSP00000390878:A264E	ENSP00000352162:A271E	A	-	2	0	ELAVL3	11426633	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.746000	0.55127	2.231000	0.72958	0.505000	0.49811	GCG		PASS	0.692	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		20	58	20	58	---	---	---	---
ZNF491	126069	broad.mit.edu	37	19	11917126	11917126	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:11917126A>T	ENST00000323169.5	+	3	689	c.358A>T	c.(358-360)Aga>Tga	p.R120*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	120					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.R120*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAGCATTCGAAGATATATGGT	0.398																																						uc002mso.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(358-360)AGA>TGA		zinc finger protein 491							86.0	87.0	87.0					19																	11917126		2203	4300	6503	SO:0001587	stop_gained	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917126A>T	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.358A>T	19.37:g.11917126A>T	ENSP00000313443:p.Arg120*						p.R120*	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	643	+			120			C2H2-type 2; degenerate.		Q3MJ35|Q8NAT8	Nonsense_Mutation	SNP	ENST00000323169.5	37	c.358A>T	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	10.81	1.454057	0.26161	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	.	.	.	0.914	0.914	0.19360	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	4.8948	0.13744	0.6858:0.3142:0.0:0.0	.	.	.	.	X	120	.	ENSP00000313443:R120X	R	+	1	2	ZNF491	11778126	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-0.886000	0.04157	0.659000	0.30945	0.418000	0.28097	AGA		PASS	0.398	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		16	58	16	58	---	---	---	---
ZNF20	7568	broad.mit.edu	37	19	12244153	12244153	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:12244153T>C	ENST00000334213.5	-	4	1072	c.848A>G	c.(847-849)tAt>tGt	p.Y283C	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	283					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.Y330C(1)|p.Y283C(1)		endometrium(1)|kidney(1)|lung(6)	8						CTTACACTCATAGGGTTTTTC	0.393																																						uc002mtf.1																			2	Substitution - Missense(2)		lung(2)		0						c.(847-849)TAT>TGT		zinc finger protein 20							72.0	77.0	75.0					19																	12244153		2202	4299	6501	SO:0001583	missense	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244153T>C	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.848A>G	19.37:g.12244153T>C	ENSP00000335437:p.Tyr283Cys					ZNF20_uc002mte.1_Missense_Mutation_p.Y248C|ZNF20_uc002mtg.1_Missense_Mutation_p.Y283C	p.Y283C	NM_021143	NP_066966	P17024	ZNF20_HUMAN			4	991	-			283			C2H2-type 7.		Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.848A>G	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628066	0.46944	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.25414	1.8	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43678	0.1258	M	0.75447	2.3	0.09310	N	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.18871	-1.0323	9	0.87932	D	0	.	3.1888	0.06610	0.3814:0.0:0.0:0.6186	.	283	P17024	ZNF20_HUMAN	C	283	ENSP00000335437:Y283C	ENSP00000292241:Y283C	Y	-	2	0	ZNF20	12105153	0.000000	0.05858	0.094000	0.20943	0.917000	0.54804	-0.159000	0.10056	0.742000	0.32697	0.260000	0.18958	TAT		PASS	0.393	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		4	54	4	54	---	---	---	---
CASP14	23581	broad.mit.edu	37	19	15164418	15164418	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:15164418C>A	ENST00000427043.3	+	3	461	c.153C>A	c.(151-153)acC>acA	p.T51T	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Silent_p.T51T	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	51					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.T51T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TCGAAAGCACCATGAAAAGAG	0.552																																						uc010dzv.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(151-153)ACC>ACA		caspase 14 precursor							87.0	85.0	86.0					19																	15164418		2203	4300	6503	SO:0001819	synonymous_variant	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164418C>A		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.153C>A	19.37:g.15164418C>A						CASP14_uc002naf.2_Silent_p.T51T	p.T51T	NM_012114	NP_036246	P31944	CASPE_HUMAN			3	461	+			51					O95823|Q3SYC9	Silent	SNP	ENST00000427043.3	37	c.153C>A	CCDS12323.1																																																																																				PASS	0.552	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		7	135	7	135	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15794350	15794350	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:15794350T>A	ENST00000550308.1	+	7	1075	c.695T>A	c.(694-696)gTa>gAa	p.V232E	CYP4F12_ENST00000324632.10_Missense_Mutation_p.V232E	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	232					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.V232E(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AGTGCCCTTGTAGAGAAAAGA	0.547																																						uc002nbl.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(694-696)GTA>GAA		cytochrome P450, family 4, subfamily F,							72.0	73.0	73.0					19																	15794350		2201	4300	6501	SO:0001583	missense	66002							g.chr19:15794350T>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.695T>A	19.37:g.15794350T>A	ENSP00000448998:p.Val232Glu						p.V232E	NM_023944	NP_076433					7	756	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.695T>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.939316	0.34189	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70164	-0.46;-0.46	2.46	-0.909	0.10514	.	0.201708	0.32593	U	0.005898	T	0.67429	0.2892	M	0.87097	2.86	0.09310	N	1	P	0.34462	0.454	B	0.39152	0.292	T	0.63655	-0.6588	10	0.87932	D	0	.	6.604	0.22716	0.0:0.3867:0.0:0.6133	.	232	Q9HCS2	CP4FC_HUMAN	E	232	ENSP00000448998:V232E;ENSP00000321821:V232E	ENSP00000321821:V232E	V	+	2	0	CYP4F12	15655350	0.302000	0.24454	0.000000	0.03702	0.054000	0.15201	2.451000	0.44952	-0.317000	0.08677	0.397000	0.26171	GTA		PASS	0.547	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			15	63	15	63	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839195	15839195	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:15839195G>T	ENST00000305899.3	+	1	362	c.342G>T	c.(340-342)ctG>ctT	p.L114L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACTCCTTCCTGCTCACCGTCA	0.647																																						uc002nbm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(340-342)CTG>CTT		olfactory receptor, family 10, subfamily H,							54.0	49.0	51.0					19																	15839195		2203	4295	6498	SO:0001819	synonymous_variant	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839195G>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.342G>T	19.37:g.15839195G>T							p.L114L	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	362	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		114			Helical; Name=3; (Potential).		Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	c.342G>T	CCDS12333.1																																																																																				PASS	0.647	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			5	24	5	24	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19338255	19338255	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:19338255C>A	ENST00000252575.6	+	8	1925	c.1826C>A	c.(1825-1827)gCc>gAc	p.A609D	NCAN_ENST00000538881.1_Missense_Mutation_p.A60D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	609					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.A609D(1)|p.A623D(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCCTTGGAGGCCACTGTCTCA	0.652																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1825-1827)GCC>GAC		chondroitin sulfate proteoglycan 3 precursor							41.0	42.0	42.0					19																	19338255		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338255C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1826C>A	19.37:g.19338255C>A	ENSP00000252575:p.Ala609Asp					NCAN_uc010ecc.1_Missense_Mutation_p.A173D	p.A609D	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	1925	+			609					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1826C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708828	0.30322	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85861	-1.79;-2.04	4.22	0.934	0.19477	.	0.914176	0.09003	N	0.862728	T	0.68137	0.2968	N	0.19112	0.55	0.09310	N	1	P;B	0.39480	0.675;0.244	B;B	0.32289	0.143;0.08	T	0.58532	-0.7620	10	0.33141	T	0.24	.	3.8746	0.09051	0.0:0.5764:0.2035:0.2201	.	623;609	Q4LE67;O14594	.;NCAN_HUMAN	D	623;609;60	ENSP00000252575:A609D;ENSP00000442202:A60D	ENSP00000252575:A609D	A	+	2	0	NCAN	19199255	0.033000	0.19621	0.008000	0.14137	0.051000	0.14879	0.462000	0.21956	0.533000	0.28675	0.561000	0.74099	GCC		PASS	0.652	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		5	23	5	23	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21205610	21205610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:21205610G>T	ENST00000261560.5	+	2	200	c.19G>T	c.(19-21)Gga>Tga	p.G7*	ZNF430_ENST00000595401.1_Nonsense_Mutation_p.G7*|ZNF430_ENST00000599548.1_Nonsense_Mutation_p.G7*	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	7					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.G7*(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						CCTGAAGTCTGGAGTGTATCC	0.443																																						uc002npj.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(19-21)GGA>TGA		zinc finger protein 430							99.0	101.0	101.0					19																	21205610		2203	4300	6503	SO:0001587	stop_gained	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21205610G>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.19G>T	19.37:g.21205610G>T	ENSP00000261560:p.Gly7*					ZNF430_uc002npk.2_Nonsense_Mutation_p.G7*	p.G7*	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			2	129	+			7					Q86V70	Nonsense_Mutation	SNP	ENST00000261560.5	37	c.19G>T	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.569840	0.86542	.	.	ENSG00000118620	ENST00000261560	.	.	.	0.82	-0.51	0.11973	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	3.2579	0.06839	0.3463:0.0:0.6537:0.0	.	.	.	.	X	7	.	ENSP00000261560:G7X	G	+	1	0	ZNF430	20997450	0.006000	0.16342	0.000000	0.03702	0.535000	0.34838	0.529000	0.23019	-0.120000	0.11809	0.313000	0.20887	GGA		PASS	0.443	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		5	66	5	66	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24309473	24309473	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:24309473C>T	ENST00000357002.4	+	4	786	c.671C>T	c.(670-672)aCc>aTc	p.T224I	ZNF254_ENST00000342944.6_Missense_Mutation_p.T139I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	224					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T224I(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGTCCTCAACCCTTACTAAT	0.328																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)ACC>ATC		zinc finger protein 254							46.0	51.0	49.0					19																	24309473		2203	4290	6493	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309473C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.671C>T	19.37:g.24309473C>T	ENSP00000349494:p.Thr224Ile					ZNF254_uc010xrk.1_Missense_Mutation_p.T139I	p.T224I	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	805	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	224			C2H2-type 1; degenerate.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.671C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054855	0.08291	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.52754	0.65;0.65	1.12	-0.692	0.11301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37517	0.1006	L	0.41079	1.255	0.09310	N	1	B	0.33345	0.409	B	0.40009	0.316	T	0.35599	-0.9782	9	0.23891	T	0.37	.	6.3605	0.21425	0.0:0.6908:0.3092:0.0	.	224	O75437	ZN254_HUMAN	I	139;224;224	ENSP00000445527:T139I;ENSP00000349494:T224I	ENSP00000445527:T139I	T	+	2	0	ZNF254	24101313	0.000000	0.05858	0.444000	0.26895	0.442000	0.32017	-4.346000	0.00249	0.536000	0.28733	0.313000	0.20887	ACC		PASS	0.328	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	33	5	33	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32923703	32923703	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:32923703C>T	ENST00000342179.5	+	4	534	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	DPY19L3_ENST00000392250.2_Missense_Mutation_p.L107F|DPY19L3_ENST00000586987.1_Missense_Mutation_p.L107F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	107						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L107F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGCTCCAACCCTCGTGCAAGG	0.413																																						uc002ntg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(319-321)CTC>TTC		dpy-19-like 3							96.0	83.0	88.0					19																	32923703		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32923703C>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.319C>T	19.37:g.32923703C>T	ENSP00000344937:p.Leu107Phe					DPY19L3_uc002nth.1_Missense_Mutation_p.L107F	p.L107F	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			4	495	+	Esophageal squamous(110;0.162)		107					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.319C>T	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276752	0.05679	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.46063	0.88;0.88	5.84	3.62	0.41486	.	0.183733	0.44688	D	0.000426	T	0.14141	0.0342	N	0.02357	-0.585	0.33654	D	0.608832	B	0.09022	0.002	B	0.15484	0.013	T	0.27839	-1.0062	10	0.02654	T	1	-7.8656	8.0195	0.30400	0.3905:0.4983:0.1112:0.0	.	107	Q6ZPD9	D19L3_HUMAN	F	107	ENSP00000376081:L107F;ENSP00000344937:L107F	ENSP00000315672:L107F	L	+	1	0	DPY19L3	37615543	1.000000	0.71417	0.996000	0.52242	0.711000	0.40976	3.670000	0.54569	1.448000	0.47680	0.591000	0.81541	CTC		PASS	0.413	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		5	34	5	34	---	---	---	---
LGALS13	29124	broad.mit.edu	37	19	40097949	40097949	+	Silent	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:40097949C>T	ENST00000221797.4	+	4	435	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	130	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.I130I(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGAGAGATATCTCCCTGACCT	0.468																																						uc002omb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(388-390)ATC>ATT		galectin-13							185.0	139.0	154.0					19																	40097949		2203	4300	6503	SO:0001819	synonymous_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097949C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.390C>T	19.37:g.40097949C>T							p.I130I	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	430	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		130			Galectin.		C5HZ15	Silent	SNP	ENST00000221797.4	37	c.390C>T	CCDS33024.1																																																																																				PASS	0.468	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		5	41	5	41	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42485885	42485885	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:42485885G>T	ENST00000302102.5	-	10	1441	c.1291C>A	c.(1291-1293)Cct>Act	p.P431T	ATP1A3_ENST00000545399.1_Missense_Mutation_p.P444T|ATP1A3_ENST00000602133.1_Missense_Mutation_p.P401T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.P442T	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	431					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.P431T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTGAGCACAGGGATGTTGTCC	0.592																																						uc002osg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1291-1293)CCT>ACT		Na+/K+ -ATPase alpha 3 subunit							99.0	83.0	88.0					19																	42485885		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42485885G>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1291C>A	19.37:g.42485885G>T	ENSP00000302397:p.Pro431Thr					ATP1A3_uc010xwf.1_Missense_Mutation_p.P442T|ATP1A3_uc010xwg.1_Missense_Mutation_p.P401T|ATP1A3_uc010xwh.1_Missense_Mutation_p.P444T|ATP1A3_uc002osh.2_Missense_Mutation_p.P431T	p.P431T	NM_152296	NP_689509	P13637	AT1A3_HUMAN			10	1445	-			431			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1291C>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573528	0.65765	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	4.34	4.34	0.51931	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.116370	0.64402	D	0.000017	D	0.96166	0.8750	M	0.79343	2.45	0.80722	D	1	P;P;D;P	0.55172	0.846;0.738;0.97;0.58	P;B;P;P	0.56278	0.512;0.364;0.795;0.497	D	0.96693	0.9512	10	0.87932	D	0	.	15.1511	0.72700	0.0:0.0:1.0:0.0	.	444;442;431;431	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	T	431;431;444;401;175;442	ENSP00000302397:P431T;ENSP00000411503:P431T;ENSP00000444688:P444T;ENSP00000437577:P442T	ENSP00000302397:P431T	P	-	1	0	ATP1A3	47177725	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.318000	0.43779	2.357000	0.79964	0.561000	0.74099	CCT		PASS	0.592	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		7	33	7	33	---	---	---	---
ZNF284	342909	broad.mit.edu	37	19	44590805	44590805	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:44590805G>T	ENST00000421176.3	+	5	1390	c.1174G>T	c.(1174-1176)Gtc>Ttc	p.V392F	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	392					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.V392F(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ACATCAGCGGGTCCACAATGG	0.433																																						uc002oyg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)GTC>TTC		zinc finger protein 284							128.0	133.0	131.0					19																	44590805		2064	4225	6289	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590805G>T	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1174G>T	19.37:g.44590805G>T	ENSP00000411032:p.Val392Phe					ZNF284_uc010ejd.2_RNA	p.V392F	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			5	1390	+		Prostate(69;0.0435)	392			C2H2-type 9.		Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.1174G>T	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692921	0.30052	.	.	ENSG00000186026	ENST00000421176	T	0.09911	2.93	2.37	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17280	0.0415	L	0.45137	1.4	0.09310	N	1	D	0.54397	0.966	P	0.58928	0.848	T	0.14839	-1.0458	9	0.72032	D	0.01	.	7.5745	0.27928	0.5538:0.0:0.4462:0.0	.	392	Q2VY69	ZN284_HUMAN	F	392	ENSP00000411032:V392F	ENSP00000411032:V392F	V	+	1	0	ZNF284	49282645	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.014000	0.12656	-0.424000	0.07382	-1.587000	0.00848	GTC		PASS	0.433	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		33	94	33	94	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51133130	51133130	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:51133130C>A	ENST00000338916.4	-	3	1606	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	SYT3_ENST00000600079.1_Missense_Mutation_p.D325Y|SYT3_ENST00000593901.1_Missense_Mutation_p.D325Y|SYT3_ENST00000544769.1_Missense_Mutation_p.D325Y	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	325	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.D325Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGGGAGGTCCAGGGCCTGC	0.612																																						uc002pst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(973-975)GAC>TAC		synaptotagmin III							90.0	88.0	89.0					19																	51133130		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133130C>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.973G>T	19.37:g.51133130C>A	ENSP00000340914:p.Asp325Tyr					SYT3_uc002psv.2_Missense_Mutation_p.D325Y|SYT3_uc010ycd.1_Missense_Mutation_p.D325Y	p.D325Y	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1607	-		all_neural(266;0.131)	325			C2 1.|Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.973G>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946612	0.73672	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.10099	2.91;2.91	4.67	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	U	0.000005	T	0.32971	0.0847	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.10730	-1.0617	10	0.87932	D	0	.	10.4299	0.44400	0.0:0.9068:0.0:0.0932	.	325	Q9BQG1	SYT3_HUMAN	Y	325	ENSP00000340914:D325Y;ENSP00000438883:D325Y	ENSP00000340914:D325Y	D	-	1	0	SYT3	55824942	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.717000	0.68446	2.301000	0.77427	0.655000	0.94253	GAC		PASS	0.612	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		11	57	11	57	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179385	55179385	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:55179385G>T	ENST00000391736.1	+	14	1577	c.1262G>T	c.(1261-1263)aGa>aTa	p.R421I	LILRB4_ENST00000391734.3_Missense_Mutation_p.R368I|LILRB4_ENST00000270452.2_Missense_Mutation_p.R421I|LILRB4_ENST00000430952.2_Missense_Mutation_p.R420I|LILRB4_ENST00000391733.3_Missense_Mutation_p.R422I	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	421					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R421I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TTTACCCTCAGACAGAAGGCA	0.622																																						uc002qgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1261-1263)AGA>ATA		leukocyte immunoglobulin-like receptor,							96.0	99.0	98.0					19																	55179385		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179385G>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1262G>T	19.37:g.55179385G>T	ENSP00000375616:p.Arg421Ile					LILRB4_uc002qgq.2_Missense_Mutation_p.R420I|LILRB4_uc002qgr.2_Missense_Mutation_p.R463I|LILRB4_uc010ert.2_Missense_Mutation_p.R462I|LILRB4_uc010eru.2_Missense_Mutation_p.R451I	p.R421I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1624	+			421			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1262G>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567952	0.28003	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00490	7.14;7.14;7.14;7.03;7.16	2.07	-1.77	0.07982	.	.	.	.	.	T	0.00875	0.0029	M	0.74881	2.28	0.09310	N	1	P;D;D;D	0.76494	0.932;0.96;0.999;0.989	B;B;D;P	0.67548	0.193;0.354;0.952;0.732	T	0.48937	-0.8990	9	0.87932	D	0	.	2.5943	0.04850	0.3782:0.2681:0.3537:0.0	.	368;422;420;421	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	I	421;421;420;368;422	ENSP00000375616:R421I;ENSP00000270452:R421I;ENSP00000408995:R420I;ENSP00000375614:R368I;ENSP00000375613:R422I	ENSP00000270452:R421I	R	+	2	0	LILRB4	59871197	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.336000	0.07863	-0.182000	0.10602	0.407000	0.27541	AGA		PASS	0.622	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			9	77	9	77	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57642748	57642748	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr19:57642748G>C	ENST00000254181.4	+	4	3159	c.2705G>C	c.(2704-2706)aGc>aCc	p.S902T	USP29_ENST00000598197.1_Missense_Mutation_p.S902T|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	902					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S902T(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGCTACCTAGCACACAGGCA	0.498																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2704-2706)AGC>ACC		ubiquitin specific peptidase 29							59.0	67.0	64.0					19																	57642748		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642748G>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2705G>C	19.37:g.57642748G>C	ENSP00000254181:p.Ser902Thr						p.S902T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	3061	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	902						Missense_Mutation	SNP	ENST00000254181.4	37	c.2705G>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874171	0.33069	.	.	ENSG00000131864	ENST00000254181	T	0.52526	0.66	3.06	0.904	0.19302	.	.	.	.	.	T	0.41328	0.1154	L	0.42245	1.32	0.09310	N	1	D	0.56521	0.976	P	0.47603	0.551	T	0.27905	-1.0060	9	0.72032	D	0.01	-0.5904	5.1004	0.14756	0.2793:0.0:0.7207:0.0	.	902	Q9HBJ7	UBP29_HUMAN	T	902	ENSP00000254181:S902T	ENSP00000254181:S902T	S	+	2	0	USP29	62334560	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.014000	0.12656	0.310000	0.22990	0.591000	0.81541	AGC		PASS	0.498	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			11	55	11	55	---	---	---	---
RRBP1	6238	broad.mit.edu	37	20	17610501	17610501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:17610501C>A	ENST00000377813.1	-	9	3019	c.2716G>T	c.(2716-2718)Gag>Tag	p.E906*	RRBP1_ENST00000360807.4_Nonsense_Mutation_p.E473*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.E906*|RRBP1_ENST00000455029.2_Nonsense_Mutation_p.E247*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.E473*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	906					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.E473*(1)|p.E906*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGGGCCTTCTCGGCATCCGCC	0.711																																						uc002wpv.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1417-1419)GAG>TAG		ribosome binding protein 1																																				SO:0001587	stop_gained	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17610501C>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2716G>T	20.37:g.17610501C>A	ENSP00000367044:p.Glu906*					RRBP1_uc002wpu.2_Nonsense_Mutation_p.E247*|RRBP1_uc002wpw.1_Nonsense_Mutation_p.E473*|RRBP1_uc010gcl.1_Nonsense_Mutation_p.E247*|RRBP1_uc010gcm.1_Silent_p.P58P	p.E473*	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			10	1771	-			906			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	ENST00000377813.1	37	c.1417G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.609414	0.97701	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	4.38	4.38	0.52667	.	0.000000	0.35970	N	0.002880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-35.7481	16.7972	0.85605	0.0:1.0:0.0:0.0	.	.	.	.	X	473;906;473;906;247	.	ENSP00000246043:E906X	E	-	1	0	RRBP1	17558501	1.000000	0.71417	0.922000	0.36590	0.301000	0.27625	4.917000	0.63369	2.380000	0.81148	0.561000	0.74099	GAG		PASS	0.711	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		8	10	8	10	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20505152	20505153	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:20505152_20505153CC>AA	ENST00000202677.7	-	30	3804_3805	c.3797_3798GG>TT	c.(3796-3798)tGG>tTT	p.W1266F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1266					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.W1266L(2)|p.W1266F(2)|p.W1266C(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATGCCATGCACCAGTCCAAGAG	0.5																																						uc002wrz.2																			6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(3796-3798)TGG>TGT|c.(3796-3798)TGG>TTG		akt substrate AS250																																				SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20505152C>A|g.chr20:20505153C>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3797_3798delinsAA	20.37:g.20505152_20505153delinsAA	ENSP00000202677:p.Trp1266Phe					RALGAPA2_uc010gcx.2_Missense_Mutation_p.W970C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.W714C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W38C|RALGAPA2_uc010gcx.2_Missense_Mutation_p.W970L|RALGAPA2_uc010zsg.1_Missense_Mutation_p.W714L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W38L	p.W1266C|p.W1266L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			30	3941|3940	-			1266					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3798G>T|c.3797G>T	CCDS46584.1																																																																																				PASS	0.500	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		12	49|46	12	46	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	30956834	30956834	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:30956834G>T	ENST00000375687.4	+	4	584	c.160G>T	c.(160-162)Gca>Tca	p.A54S	ASXL1_ENST00000542461.1_Missense_Mutation_p.A53S|ASXL1_ENST00000375689.1_Missense_Mutation_p.A50S|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Missense_Mutation_p.A49S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	54					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A54S(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTCCCCTCTCGCATGCCTCAA	0.438			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(160-162)GCA>TCA		additional sex combs like 1 isoform 1							128.0	114.0	119.0					20																	30956834		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:30956834G>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.160G>T	20.37:g.30956834G>T	ENSP00000364839:p.Ala54Ser					ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR	p.A54S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			3	586	+			54					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.160G>T	CCDS13201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.525474|4.525474	0.85600|0.85600	.|.	.|.	ENSG00000171456|ENSG00000171456	ENST00000358956;ENST00000542189;ENST00000375687;ENST00000542461;ENST00000421155;ENST00000412498;ENST00000375689;ENST00000306058|ENST00000497249	T;T|.	0.55760|.	1.16;0.5|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73353|0.73353	0.3576|0.3576	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.72730|0.72730	-0.4205|-0.4205	10|5	0.87932|.	D|.	0|.	-12.3413|-12.3413	15.5042|15.5042	0.75725|0.75725	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	54|.	Q8IXJ9|.	ASXL1_HUMAN|.	S|L	54;54;54;53;54;44;50;49|42	ENSP00000364839:A54S;ENSP00000305119:A49S|.	ENSP00000305119:A49S|.	A|R	+|+	1|2	0|0	ASXL1|ASXL1	30420495|30420495	1.000000|1.000000	0.71417|0.71417	0.394000|0.394000	0.26270|0.26270	0.888000|0.888000	0.51559|0.51559	7.990000|7.990000	0.88215|0.88215	2.706000|2.706000	0.92434|0.92434	0.643000|0.643000	0.83706|0.83706	GCA|CGC		PASS	0.438	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		10	49	10	49	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33337933	33337933	+	Missense_Mutation	SNP	G	G	T	rs375914895		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:33337933G>T	ENST00000374796.2	-	10	4635	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T	NCOA6_ENST00000359003.2_Missense_Mutation_p.P689T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	689	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P689T(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATCATTTGTGGGCCCTGCTGG	0.547																																						uc002xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(2065-2067)CCA>ACA		nuclear receptor coactivator 6							69.0	69.0	69.0					20																	33337933		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337933G>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2065C>A	20.37:g.33337933G>T	ENSP00000363929:p.Pro689Thr					NCOA6_uc002xaw.2_Missense_Mutation_p.P689T	p.P689T	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			10	4636	-			689			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2065C>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541686	0.45280	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.21543	2.0;2.0	6.17	5.22	0.72569	.	0.298173	0.29246	N	0.012718	T	0.12902	0.0313	N	0.08118	0	0.47659	D	0.999488	B	0.21606	0.058	B	0.20767	0.031	T	0.08617	-1.0713	10	0.31617	T	0.26	-1.0894	16.0153	0.80434	0.0:0.1335:0.8665:0.0	.	689	Q14686	NCOA6_HUMAN	T	689	ENSP00000363929:P689T;ENSP00000351894:P689T	ENSP00000351894:P689T	P	-	1	0	NCOA6	32801594	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.289000	0.78701	1.616000	0.50265	0.655000	0.94253	CCA		PASS	0.547	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	56	5	56	---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34241817	34241817	+	Silent	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:34241817T>C	ENST00000374114.3	-	3	1691	c.1428A>G	c.(1426-1428)gtA>gtG	p.V476V	CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Silent_p.V476V|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.V476V|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	476	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V476V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTCTGAACTCTACAAAGCCTT	0.373											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002xdq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1426-1428)GTA>GTG		RNA binding motif protein 12							107.0	111.0	110.0					20																	34241817		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241817T>C	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1428A>G	20.37:g.34241817T>C			OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	846	CPNE1_uc010zvj.1_5'UTR|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.V476V|RBM12_uc002xds.2_Silent_p.V476V	p.V476V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1660	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		476			RRM 2.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.1428A>G	CCDS13261.1																																																																																				PASS	0.373	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		33	107	33	107	---	---	---	---
ACTR5	79913	broad.mit.edu	37	20	37384652	37384652	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:37384652C>A	ENST00000243903.4	+	5	1183	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	382					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.L382L(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AAGTCAACCTCGAGGTGGATG	0.532																																						uc002xjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1144-1146)CTC>CTA		ARP5 actin-related protein 5 homolog							79.0	75.0	76.0					20																	37384652		2203	4300	6503	SO:0001819	synonymous_variant	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37384652C>A	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1146C>A	20.37:g.37384652C>A							p.L382L	NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN			5	1171	+		Myeloproliferative disorder(115;0.00878)	382			Potential.		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	c.1146C>A	CCDS13308.1																																																																																				PASS	0.532	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		4	39	4	39	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40735489	40735489	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:40735489C>A	ENST00000373187.1	-	24	3326	c.3327G>T	c.(3325-3327)gtG>gtT	p.V1109V	PTPRT_ENST00000356100.2_Silent_p.V1118V|PTPRT_ENST00000373193.3_Silent_p.V1112V|PTPRT_ENST00000373190.1_Silent_p.V1108V|PTPRT_ENST00000373201.1_Silent_p.V1099V|PTPRT_ENST00000373184.1_Silent_p.V1119V|PTPRT_ENST00000373198.4_Silent_p.V1128V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1109	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.V1131V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGATGTCCACCACCCCTTCAT	0.572																																						uc002xkg.2																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(3325-3327)GTG>GTT		protein tyrosine phosphatase, receptor type, T							89.0	99.0	96.0					20																	40735489		2119	4248	6367	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735489C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3327G>T	20.37:g.40735489C>A						PTPRT_uc010ggj.2_Silent_p.V1128V|PTPRT_uc010ggi.2_Silent_p.V312V	p.V1109V	NM_007050	NP_008981	O14522	PTPRT_HUMAN			24	3511	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1109			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.3327G>T	CCDS42874.1																																																																																				PASS	0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			5	58	5	58	---	---	---	---
R3HDML	140902	broad.mit.edu	37	20	42965955	42965955	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:42965955G>T	ENST00000217043.2	+	1	330	c.158G>T	c.(157-159)cGc>cTc	p.R53L		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	53						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)	p.R53L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCCAGGTACCGCCGGAAGCGC	0.597																																						uc002xls.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CGC>CTC		R3H domain containing-like precursor							57.0	53.0	55.0					20																	42965955		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42965955G>T	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.158G>T	20.37:g.42965955G>T	ENSP00000217043:p.Arg53Leu						p.R53L	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	330	+		Myeloproliferative disorder(115;0.028)	53						Missense_Mutation	SNP	ENST00000217043.2	37	c.158G>T	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583102	0.46006	.	.	ENSG00000101074	ENST00000217043	T	0.08896	3.04	5.05	1.96	0.26148	CAP domain (2);	0.275895	0.34133	N	0.004229	T	0.10766	0.0263	M	0.66939	2.045	0.27820	N	0.94182	P	0.40515	0.719	B	0.40199	0.322	T	0.07271	-1.0781	10	0.66056	D	0.02	.	8.191	0.31368	0.1447:0.1291:0.7262:0.0	.	53	Q9H3Y0	CRSPL_HUMAN	L	53	ENSP00000217043:R53L	ENSP00000217043:R53L	R	+	2	0	R3HDML	42399369	0.001000	0.12720	0.991000	0.47740	0.224000	0.24922	0.124000	0.15728	0.156000	0.19299	0.174000	0.16983	CGC		PASS	0.597	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		6	20	6	20	---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56137948	56137948	+	Silent	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:56137948T>A	ENST00000319441.4	+	4	767	c.603T>A	c.(601-603)ccT>ccA	p.P201P	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.P69P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	201					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.P201P(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCCCTCTGCCTTTACAAAGTA	0.532																																						uc002xyn.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(601-603)CCT>CCA		cytosolic phosphoenolpyruvate carboxykinase 1							45.0	47.0	46.0					20																	56137948		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137948T>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.603T>A	20.37:g.56137948T>A						PCK1_uc010zzm.1_Intron	p.P201P	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	766	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		201					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.603T>A	CCDS13460.1																																																																																				PASS	0.532	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			7	28	7	28	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769790	57769790	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:57769790G>C	ENST00000371030.2	+	1	3716	c.3716G>C	c.(3715-3717)gGa>gCa	p.G1239A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1239							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G1239A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGGAGAAGGAGGGCCGGCG	0.597																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(3715-3717)GGA>GCA		zinc finger protein 831							21.0	23.0	22.0					20																	57769790		1978	4142	6120	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769790G>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3716G>C	20.37:g.57769790G>C	ENSP00000360069:p.Gly1239Ala						p.G1239A	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3716	+	all_lung(29;0.0085)		1239					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3716G>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604584	0.28623	.	.	ENSG00000124203	ENST00000371030	T	0.04603	3.59	3.55	1.52	0.23074	.	0.742458	0.11976	N	0.511291	T	0.03477	0.0100	L	0.27053	0.805	0.09310	N	1	P	0.46987	0.888	B	0.43536	0.423	T	0.34675	-0.9819	10	0.12430	T	0.62	-4.3454	4.3247	0.11034	0.1394:0.2625:0.598:0.0	.	1239	Q5JPB2	ZN831_HUMAN	A	1239	ENSP00000360069:G1239A	ENSP00000360069:G1239A	G	+	2	0	ZNF831	57203185	0.830000	0.29337	0.006000	0.13384	0.062000	0.15995	0.637000	0.24659	0.454000	0.26884	0.609000	0.83330	GGA		PASS	0.597	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	10	4	10	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57829123	57829123	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:57829123C>A	ENST00000371030.2	+	5	4359	c.4359C>A	c.(4357-4359)tcC>tcA	p.S1453S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1453							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S1453S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCTGGCCTCCCAGGATTCAG	0.522																																						uc002yan.2																			1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(4357-4359)TCC>TCA		zinc finger protein 831							70.0	74.0	73.0					20																	57829123		2004	4176	6180	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829123C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4359C>A	20.37:g.57829123C>A							p.S1453S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4359	+	all_lung(29;0.0085)		1453					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.4359C>A	CCDS42894.1																																																																																				PASS	0.522	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	63	6	63	---	---	---	---
GID8	54994	broad.mit.edu	37	20	61576136	61576136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:61576136G>T	ENST00000266069.3	+	5	706	c.559G>T	c.(559-561)Gag>Tag	p.E187*		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	187						cell junction (GO:0030054)|nucleus (GO:0005634)		p.E187*(1)									TGAAAATCGCGAGTCAACACC	0.418																																						uc002ydy.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(559-561)GAG>TAG		chromosome 20 open reading frame 11							116.0	107.0	110.0					20																	61576136		2203	4300	6503	SO:0001587	stop_gained	54994					nucleus	protein binding	g.chr20:61576136G>T	AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.559G>T	20.37:g.61576136G>T	ENSP00000266069:p.Glu187*						p.E187*	NM_017896	NP_060366	Q9NWU2	CT011_HUMAN			5	736	+	Breast(26;5.68e-08)		187					E1P5I3|Q8N5M5	Nonsense_Mutation	SNP	ENST00000266069.3	37	c.559G>T	CCDS13510.1	.	.	.	.	.	.	.	.	.	.	G	37	6.493665	0.97612	.	.	ENSG00000101193	ENST00000266069	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-29.8516	19.6769	0.95939	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000266069:E187X	E	+	1	0	C20orf11	61046581	1.000000	0.71417	0.952000	0.39060	0.971000	0.66376	9.569000	0.98170	2.651000	0.90000	0.655000	0.94253	GAG		PASS	0.418	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2	NM_017896		4	71	4	71	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61959481	61959481	+	Splice_Site	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:61959481T>A	ENST00000358894.6	+	33	3713		c.e33+2		COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.C1212*|COL20A1_ENST00000422202.1_Nonsense_Mutation_p.C1212*	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.?(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCAGGCCTGTGAGTCTGCCA	0.647																																						uc011aau.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e33+2		collagen, type XX, alpha 1							55.0	60.0	58.0					20																	61959481		2161	4257	6418	SO:0001630	splice_region_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959481T>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3613+2T>A	20.37:g.61959481T>A						COL20A1_uc011aav.1_Nonsense_Mutation_p.C1026*	p.S1205_splice	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			33	3713	+	all_cancers(38;1.39e-10)							Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Splice_Site	SNP	ENST00000358894.6	37	c.3613_splice	CCDS46628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.304|5.304	0.241499|0.241499	0.10077|0.10077	.|.	.|.	ENSG00000101203|ENSG00000101203	ENST00000358894;ENST00000326996|ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.|.	.|.	.|.	3.92|3.92	1.42|1.42	0.22433|0.22433	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.0464|5.0464	0.14487|0.14487	0.0:0.3446:0.0:0.6554|0.0:0.3446:0.0:0.6554	.|.	.|.	.|.	.|.	.|X	-1|1212;1212;340;195	.|.	.|.	.|C	+|+	.|3	.|2	COL20A1|COL20A1	61429925|61429925	0.759000|0.759000	0.28416|0.28416	0.999000|0.999000	0.59377|0.59377	0.113000|0.113000	0.19764|0.19764	-0.489000|-0.489000	0.06490|0.06490	0.072000|0.072000	0.16694|0.16694	0.260000|0.260000	0.18958|0.18958	.|TGT		PASS	0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	Intron	3	14	3	14	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62595499	62595499	+	Missense_Mutation	SNP	C	C	G	rs375990139		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr20:62595499C>G	ENST00000450537.1	-	8	1465	c.1405G>C	c.(1405-1407)Gcc>Ccc	p.A469P	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A469P|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A469P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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.A469P(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTCTTCCGGGCGTCCTCAGGG	0.662																																						uc002yhl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)GCC>CCC		zinc finger protein 512B							73.0	79.0	77.0					20																	62595499		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62595499C>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1405G>C	20.37:g.62595499C>G	ENSP00000393795:p.Ala469Pro						p.A469P	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			8	1459	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		469					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1405G>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	2.329	-0.353800	0.05173	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.22539	1.95;1.95;1.95	4.59	-1.73	0.08081	.	1.893140	0.03248	N	0.181409	T	0.07683	0.0193	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	10	0.29301	T	0.29	0.0303	2.276	0.04103	0.3482:0.3855:0.1158:0.1505	.	469	Q96KM6	Z512B_HUMAN	P	469	ENSP00000358904:A469P;ENSP00000393795:A469P;ENSP00000217130:A469P	ENSP00000217130:A469P	A	-	1	0	ZNF512B	62065943	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.670000	0.05256	-0.244000	0.09639	0.467000	0.42956	GCC		PASS	0.662	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		9	36	9	36	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47847543	47847543	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr21:47847543C>A	ENST00000359568.5	+	34	7435	c.7328C>A	c.(7327-7329)cCc>cAc	p.P2443H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2443					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P2443H(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TAGGAAGTGCCCACCGCGTGC	0.567																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(7327-7329)CCC>CAC		pericentrin							67.0	69.0	68.0					21																	47847543		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47847543C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7328C>A	21.37:g.47847543C>A	ENSP00000352572:p.Pro2443His					PCNT_uc002zjj.2_Missense_Mutation_p.P2325H	p.P2443H	NM_006031	NP_006022	O95613	PCNT_HUMAN			34	7435	+	Breast(49;0.112)		2443					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7328C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466134	0.43839	.	.	ENSG00000160299	ENST00000359568	T	0.01516	4.81	5.14	0.0698	0.14376	.	2.090240	0.02762	N	0.118747	T	0.03178	0.0093	N	0.24115	0.695	0.09310	N	1	D;D	0.57899	0.972;0.981	P;P	0.53313	0.723;0.662	T	0.44034	-0.9354	10	0.42905	T	0.14	.	7.4044	0.26983	0.0:0.5095:0.0:0.4905	.	2325;2443	O95613-2;O95613	.;PCNT_HUMAN	H	2443	ENSP00000352572:P2443H	ENSP00000352572:P2443H	P	+	2	0	PCNT	46671971	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.689000	0.25437	0.181000	0.19994	0.655000	0.94253	CCC		PASS	0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	47	6	47	---	---	---	---
IGLV1-44	28823	broad.mit.edu	37	22	22735419	22735420	+	RNA	DNP	CC	CC	AA	rs575299294		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:22735419_22735420CC>AA	ENST00000390297.2	+	0	170_171									immunoglobulin lambda variable 1-44																		GGGTCCTGGGCCCAGTCTGTGC	0.579																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.																																						96610							g.chr22:22735419C>A|g.chr22:22735420C>A	Z73654		22q11.2	2012-02-08			ENSG00000211651	ENSG00000211651		"""Immunoglobulins / IGL locus"""	5879	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151050	Exception_encountered	22.37:g.22735419_22735420delinsAA														46		+									RNA	SNP	ENST00000390297.2	37	c.5215C>A|c.5216C>A																																																																																					PASS	0.579	IGLV1-44-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321110.1	NG_000002		7|6	53|52	6	52	---	---	---	---
ZNF280B	140883	broad.mit.edu	37	22	22843151	22843151	+	Missense_Mutation	SNP	C	C	A	rs184628048		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:22843151C>A	ENST00000406426.1	-	4	1315	c.573G>T	c.(571-573)agG>agT	p.R191S	ZNF280B_ENST00000360412.2_Missense_Mutation_p.R191S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	191					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.R191S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAATTCCATCCCTGAGTTTAG	0.383																																						uc002zwc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(571-573)AGG>AGT		zinc finger protein 280B							103.0	103.0	103.0					22																	22843151		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843151C>A	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.573G>T	22.37:g.22843151C>A	ENSP00000385998:p.Arg191Ser					LOC96610_uc011aim.1_Intron	p.R191S	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1349	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	191						Missense_Mutation	SNP	ENST00000406426.1	37	c.573G>T	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.012187	0.00422	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.11821	2.74;2.74	4.32	3.28	0.37604	.	.	.	.	.	T	0.02727	0.0082	N	0.00368	-1.59	0.23277	N	0.997992	B	0.09022	0.002	B	0.04013	0.001	T	0.39643	-0.9604	9	0.02654	T	1	-2.7214	7.7484	0.28883	0.7357:0.2643:0.0:0.0	.	191	Q86YH2	Z280B_HUMAN	S	191	ENSP00000385998:R191S;ENSP00000353586:R191S	ENSP00000353586:R191S	R	-	3	2	ZNF280B	21173151	0.995000	0.38212	0.963000	0.40424	0.158000	0.22134	1.239000	0.32719	0.868000	0.35678	0.655000	0.94253	AGG		PASS	0.383	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		10	68	10	68	---	---	---	---
CHCHD10	400916	broad.mit.edu	37	22	24108318	24108318	+	Missense_Mutation	SNP	G	G	T	rs201709051		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:24108318G>T	ENST00000484558.2	-	3	974	c.406C>A	c.(406-408)Cat>Aat	p.H136N	CHCHD10_ENST00000520222.1_3'UTR|CHCHD10_ENST00000401675.3_Missense_Mutation_p.H143N			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	136					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	mitochondrion (GO:0005739)		p.H136N(1)		large_intestine(2)|lung(1)	3						CACTCACCATGGTAGTACTTG	0.627																																						uc002zxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CAT>AAT		coiled-coil-helix-coiled-coil-helix domain							60.0	43.0	49.0					22																	24108318		2203	4300	6503	SO:0001583	missense	400916					mitochondrion		g.chr22:24108318G>T	AB050774	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	15559	protein-coding gene	gene with protein product		615903	"""chromosome 22 open reading frame 16"""	C22orf16			Standard	XM_006724241		Approved	N27C7-4	uc002zxw.3	Q8WYQ3	OTTHUMG00000150736	ENST00000484558.2:c.406C>A	22.37:g.24108318G>T	ENSP00000418428:p.His136Asn						p.H136N	NM_213720	NP_998885	Q8WYQ3	CHC10_HUMAN			3	486	-			136					A8K0J5	Missense_Mutation	SNP	ENST00000484558.2	37	c.406C>A	CCDS13815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.501|0.501	-0.870917|-0.870917	0.02570|0.02570	.|.	.|.	ENSG00000250479|ENSG00000250479	ENST00000401675;ENST00000484558|ENST00000521886	T;T|.	0.39406|.	1.09;1.08|.	4.2|4.2	3.18|3.18	0.36537|0.36537	.|.	0.277071|.	0.32258|.	N|.	0.006352|.	T|T	0.12987|0.12987	0.0315|0.0315	N|N	0.02286|0.02286	-0.61|-0.61	0.32134|0.32134	N|N	0.586379|0.586379	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.20840|0.20840	-1.0263|-1.0263	10|5	0.02654|.	T|.	1|.	.|.	5.8661|5.8661	0.18775|0.18775	0.1039:0.0:0.7065:0.1896|0.1039:0.0:0.7065:0.1896	.|.	136|.	Q8WYQ3|.	CHC10_HUMAN|.	N|Q	143;136|84	ENSP00000384973:H143N;ENSP00000418428:H136N|.	ENSP00000384973:H143N|.	H|P	-|-	1|2	0|0	CHCHD10|CHCHD10	22438318|22438318	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.844000|0.844000	0.47949|0.47949	2.926000|2.926000	0.48892|0.48892	1.084000|1.084000	0.41184|0.41184	0.485000|0.485000	0.47835|0.47835	CAT|CCA		PASS	0.627	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319870.2	NM_213720		5	29	5	29	---	---	---	---
RFPL1	5988	broad.mit.edu	37	22	29837623	29837623	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:29837623C>T	ENST00000354373.2	+	2	675	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	156	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.R156W(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CACACAGAATCGGCAAGACCT	0.552																																						uc003afn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)CGG>TGG		ret finger protein-like 1							149.0	128.0	135.0					22																	29837623		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837623C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.466C>T	22.37:g.29837623C>T	ENSP00000346342:p.Arg156Trp					RFPL1S_uc003afm.1_RNA	p.R156W	NM_021026	NP_066306	O75677	RFPL1_HUMAN			2	675	+			156			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.466C>T	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	5.412	0.261245	0.10239	.	.	ENSG00000128250	ENST00000354373	T	0.10477	2.87	0.932	-0.522	0.11928	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.11452	0.0279	L	0.45422	1.42	0.09310	N	1	P	0.46912	0.886	P	0.46049	0.502	T	0.19128	-1.0315	9	0.40728	T	0.16	.	7.9607	0.30070	0.0:0.8069:0.0:0.1931	.	156	O75677	RFPL1_HUMAN	W	156	ENSP00000346342:R156W	ENSP00000346342:R156W	R	+	1	2	RFPL1	28167623	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	0.415000	0.21181	-0.697000	0.05092	-1.137000	0.01932	CGG		PASS	0.552	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		21	64	21	64	---	---	---	---
PATZ1	23598	broad.mit.edu	37	22	31741322	31741322	+	Silent	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:31741322G>A	ENST00000266269.5	-	1	896	c.267C>T	c.(265-267)ggC>ggT	p.G89G	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000351933.4_Silent_p.G89G|PATZ1_ENST00000405309.3_Silent_p.G89G|PATZ1_ENST00000215919.3_Silent_p.G89G	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G89G(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTGCCGTCGCGCCCCCTACAT	0.682																																						uc003akq.2																		EWSR1/PATZ1(2)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(2)	2						c.(265-267)GGC>GGT		POZ (BTB) and AT hook containing zinc finger 1							16.0	19.0	18.0					22																	31741322		2197	4286	6483	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31741322G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.267C>T	22.37:g.31741322G>A						PATZ1_uc003akp.2_Silent_p.G89G|PATZ1_uc003akr.2_Silent_p.G89G|PATZ1_uc003aks.2_Silent_p.G89G|uc003akt.2_5'Flank	p.G89G	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			1	928	-			89			BTB.		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.267C>T	CCDS13894.1																																																																																				PASS	0.682	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	9	5	9	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34000433	34000433	+	Silent	SNP	T	T	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:34000433T>C	ENST00000354992.2	-	6	1174	c.603A>G	c.(601-603)gcA>gcG	p.A201A	LARGE_ENST00000437602.2_Silent_p.A201A|LARGE_ENST00000402320.1_Silent_p.A201A|LARGE_ENST00000337431.2_Silent_p.A201A|LARGE_ENST00000397394.2_Silent_p.A201A	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	201					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.A201A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGAGCTCGTCTGCATTGTAGA	0.547																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(601-603)GCA>GCG		like-glycosyltransferase							126.0	105.0	112.0					22																	34000433		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34000433T>C	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.603A>G	22.37:g.34000433T>C						LARGE_uc003ane.3_Silent_p.A201A|LARGE_uc010gwp.2_Silent_p.A201A|LARGE_uc011ame.1_Silent_p.A133A|LARGE_uc011amf.1_Silent_p.A201A	p.A201A	NM_004737	NP_004728	O95461	LARGE_HUMAN			6	1182	-		Lung NSC(1;0.219)	201			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.603A>G	CCDS13912.1																																																																																				PASS	0.547	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		8	71	8	71	---	---	---	---
TOM1	10043	broad.mit.edu	37	22	35723368	35723368	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:35723368G>T	ENST00000449058.2	+	7	878	c.753G>T	c.(751-753)ctG>ctT	p.L251L	TOM1_ENST00000411850.1_Silent_p.L251L|TOM1_ENST00000425375.1_Silent_p.L206L|TOM1_ENST00000436462.2_Silent_p.L213L|TOM1_ENST00000382034.5_Silent_p.L184L|TOM1_ENST00000447733.1_Silent_p.L218L	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	251	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.L251L(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGCAGACCTGGAGCTGCTGC	0.627																																						uc003ann.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(751-753)CTG>CTT		target of myb1 isoform 1							90.0	71.0	77.0					22																	35723368		2203	4300	6503	SO:0001819	synonymous_variant	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35723368G>T	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.753G>T	22.37:g.35723368G>T						TOM1_uc011ami.1_Silent_p.L218L|TOM1_uc011amj.1_Silent_p.L94L|TOM1_uc003ans.2_Silent_p.L94L|TOM1_uc011amk.1_Silent_p.L213L|TOM1_uc003anp.2_Silent_p.L251L|TOM1_uc011aml.1_Silent_p.L206L|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.L245L|TOM1_uc003anr.2_Silent_p.L94L	p.L251L	NM_005488	NP_005479	O60784	TOM1_HUMAN			7	878	+			251			GAT.		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	c.753G>T	CCDS13913.1																																																																																				PASS	0.627	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		9	20	9	20	---	---	---	---
MB	4151	broad.mit.edu	37	22	36003352	36003352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:36003352G>A	ENST00000397326.2	-	3	655	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	MB_ENST00000397328.1_Nonsense_Mutation_p.Q153*|MB_ENST00000359787.1_Nonsense_Mutation_p.Q153*|MB_ENST00000406324.1_Nonsense_Mutation_p.Q153*|MB_ENST00000401702.1_Nonsense_Mutation_p.Q98*	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	153					brown fat cell differentiation (GO:0050873)|enucleate erythrocyte differentiation (GO:0043353)|heart development (GO:0007507)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.Q153*(1)		lung(1)	1						GCCTAGCCCTGGAAGCCCAGC	0.622																																					GBM(49;694 1113 16998 18419)|Esophageal Squamous(101;120 1973 10459 37086)	uc003anz.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(457-459)CAG>TAG		myoglobin							49.0	51.0	51.0					22																	36003352		2203	4300	6503	SO:0001587	stop_gained	4151						heme binding|oxygen transporter activity	g.chr22:36003352G>A		CCDS13917.1	22q13.1	2012-10-02			ENSG00000198125	ENSG00000198125			6915	protein-coding gene	gene with protein product		160000				10591208, 2989088	Standard	NM_005368		Approved	PVALB	uc003anz.3	P02144	OTTHUMG00000150606	ENST00000397326.2:c.457C>T	22.37:g.36003352G>A	ENSP00000380489:p.Gln153*					MB_uc003aoa.2_Nonsense_Mutation_p.Q153*|MB_uc003aob.2_Nonsense_Mutation_p.Q153*	p.Q153*	NM_005368	NP_005359	P02144	MYG_HUMAN			3	537	-			153					Q52H51|Q5THY7	Nonsense_Mutation	SNP	ENST00000397326.2	37	c.457C>T	CCDS13917.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990347	0.74589	.	.	ENSG00000198125	ENST00000401702;ENST00000397326;ENST00000359787;ENST00000397328;ENST00000453997;ENST00000406324	.	.	.	4.8	4.8	0.61643	.	0.426761	0.25497	N	0.030262	.	.	.	.	.	.	0.29935	N	0.82158	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-38.7753	16.4191	0.83752	0.0:0.0:1.0:0.0	.	.	.	.	X	98;153;153;153;135;153	.	ENSP00000352835:Q153X	Q	-	1	0	MB	34333298	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.345000	0.59360	2.386000	0.81285	0.555000	0.69702	CAG		PASS	0.622	MB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319057.2	NM_203377		6	42	6	42	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40045840	40045840	+	Silent	SNP	C	C	A	rs373807263		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:40045840C>A	ENST00000402142.3	+	10	1902	c.1902C>A	c.(1900-1902)cgC>cgA	p.R634R	CACNA1I_ENST00000401624.1_Silent_p.R634R|CACNA1I_ENST00000407673.1_Silent_p.R599R|CACNA1I_ENST00000404898.1_Silent_p.R599R|CACNA1I_ENST00000400164.3_Silent_p.R599R|CACNA1I_ENST00000336649.4_Silent_p.R640R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	634					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R634R(1)|p.R599R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAAGCTGCGCGGCATCGTGG	0.647																																						uc003ayc.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1900-1902)CGC>CGA		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						38.0	52.0	47.0					22																	40045840		2191	4269	6460	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40045840C>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1902C>A	22.37:g.40045840C>A						CACNA1I_uc003ayd.2_Silent_p.R599R|CACNA1I_uc003aye.2_Silent_p.R549R|CACNA1I_uc003ayf.2_Silent_p.R514R	p.R634R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			10	1902	+	Melanoma(58;0.0749)		634			II.|Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.1902C>A	CCDS46710.1																																																																																				PASS	0.647	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		8	30	8	30	---	---	---	---
ENTHD1	150350	broad.mit.edu	37	22	40217076	40217076	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:40217076G>T	ENST00000325157.6	-	5	1004	c.754C>A	c.(754-756)Cta>Ata	p.L252I		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	252								p.L252I(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGTGTTGCTAGTAAAGGCAGC	0.398																																						uc003ayg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(754-756)CTA>ATA		ENTH domain containing 1							103.0	96.0	98.0					22																	40217076		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40217076G>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.754C>A	22.37:g.40217076G>T	ENSP00000317431:p.Leu252Ile						p.L252I	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			5	1005	-	Melanoma(58;0.0749)		252					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.754C>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	5.491	0.275534	0.10403	.	.	ENSG00000176177	ENST00000325157	T	0.45276	0.9	5.1	4.07	0.47477	.	0.650704	0.14189	N	0.335442	T	0.30727	0.0774	N	0.22421	0.69	0.22185	N	0.999304	B	0.17667	0.023	B	0.18263	0.021	T	0.22347	-1.0219	10	0.51188	T	0.08	-6.2233	11.4445	0.50114	0.0:0.0:0.8205:0.1795	.	252	Q8IYW4	ENTD1_HUMAN	I	252	ENSP00000317431:L252I	ENSP00000317431:L252I	L	-	1	2	ENTHD1	38547022	0.998000	0.40836	0.130000	0.21974	0.015000	0.08874	2.732000	0.47352	1.237000	0.43756	0.591000	0.81541	CTA		PASS	0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		5	25	5	25	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41647034	41647034	+	Missense_Mutation	SNP	C	C	A	rs139565299		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:41647034C>A	ENST00000455915.2	-	12	2929	c.1460G>T	c.(1459-1461)aGg>aTg	p.R487M	RANGAP1_ENST00000407260.4_Missense_Mutation_p.R432M|RANGAP1_ENST00000356244.3_Missense_Mutation_p.R487M|RANGAP1_ENST00000405486.1_Missense_Mutation_p.R487M			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	487					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.R487M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACTGCCATCCTCACAGTAGC	0.557																																						uc003azs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1459-1461)AGG>ATG		Ran GTPase activating protein 1							229.0	151.0	178.0					22																	41647034		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41647034C>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1460G>T	22.37:g.41647034C>A	ENSP00000401470:p.Arg487Met					RANGAP1_uc003azt.2_Missense_Mutation_p.R487M|RANGAP1_uc003azu.2_Missense_Mutation_p.R487M|RANGAP1_uc003azr.2_Translation_Start_Site|RANGAP1_uc010gyk.2_Translation_Start_Site|RANGAP1_uc011aoz.1_Missense_Mutation_p.R432M	p.R487M	NM_002883	NP_002874	P46060	RAGP1_HUMAN			12	2930	-			487					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1460G>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840943	0.71488	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	4.73	2.41	0.29592	Ran-GTPase activating protein 1, C-terminal (3);	0.094194	0.64402	D	0.000001	D	0.90570	0.7044	L	0.50333	1.59	0.29103	N	0.881344	P;P	0.52463	0.953;0.817	P;P	0.48815	0.591;0.53	D	0.85792	0.1368	10	0.72032	D	0.01	-20.4249	4.1201	0.10101	0.0:0.4447:0.0:0.5553	.	432;487	F8W7I9;P46060	.;RAGP1_HUMAN	M	487;487;487;487;432	ENSP00000385866:R487M;ENSP00000348577:R487M;ENSP00000401470:R487M;ENSP00000385354:R432M	ENSP00000348577:R487M	R	-	2	0	RANGAP1	39976980	1.000000	0.71417	0.888000	0.34837	0.834000	0.47266	1.848000	0.39309	0.969000	0.38237	0.555000	0.69702	AGG		PASS	0.557	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		6	75	6	75	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42609031	42609031	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr22:42609031G>T	ENST00000359486.3	-	1	2417	c.2281C>A	c.(2281-2283)Cac>Aac	p.H761N	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.H761N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.H761N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGTGGTGGTGGTAACCCTGA	0.502																																						uc003bcj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2281-2283)CAC>AAC		transcription factor 20 isoform 1							127.0	101.0	110.0					22																	42609031		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609031G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2281C>A	22.37:g.42609031G>T	ENSP00000352463:p.His761Asn					TCF20_uc003bck.1_Missense_Mutation_p.H761N|TCF20_uc003bnt.2_Missense_Mutation_p.H761N	p.H761N	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	2415	-			761					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2281C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656843	0.47467	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60040	0.23;0.22	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.60286	-0.7293	10	0.25751	T	0.34	-18.3246	20.1208	0.97960	0.0:0.0:1.0:0.0	.	761;761	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	761	ENSP00000352463:H761N;ENSP00000335561:H761N	ENSP00000335561:H761N	H	-	1	0	TCF20	40938975	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.716000	0.74702	2.758000	0.94735	0.655000	0.94253	CAC		PASS	0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		5	66	5	66	---	---	---	---
GYG2	8908	broad.mit.edu	37	X	2795308	2795308	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:2795308C>A	ENST00000381163.3	+	11	1586	c.1304C>A	c.(1303-1305)gCt>gAt	p.A435D	GYG2_ENST00000398806.3_Missense_Mutation_p.A404D|GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Intron|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	435					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.A435D(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACTCCCTGCTGAGGCTCTC	0.547																																						uc004cqs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1303-1305)GCT>GAT		glycogenin 2 isoform b							80.0	70.0	73.0					X																	2795308		2203	4299	6502	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2795308C>A	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1304C>A	X.37:g.2795308C>A	ENSP00000370555:p.Ala435Asp					GYG2_uc004cqt.1_Missense_Mutation_p.A404D|GYG2_uc004cqu.1_Missense_Mutation_p.A403D|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Missense_Mutation_p.A395D|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron	p.A435D	NM_003918	NP_003909	O15488	GLYG2_HUMAN			11	1586	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	435					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.1304C>A	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461244	0.26248	.	.	ENSG00000056998	ENST00000398806;ENST00000381163	T;T	0.44482	0.92;1.24	2.73	-0.0179	0.13966	.	1.287940	0.06122	U	0.669070	T	0.30135	0.0755	N	0.08118	0	0.09310	N	0.999998	D;P;B;B	0.54207	0.965;0.838;0.358;0.244	P;B;B;B	0.50570	0.644;0.202;0.154;0.074	T	0.21895	-1.0232	10	0.66056	D	0.02	.	4.8441	0.13505	0.0:0.436:0.0:0.564	.	395;404;404;435	O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;GLYG2_HUMAN	D	404;435	ENSP00000381786:A404D;ENSP00000370555:A435D	ENSP00000370555:A435D	A	+	2	0	GYG2	2805308	0.000000	0.05858	0.006000	0.13384	0.023000	0.10783	-0.519000	0.06260	0.106000	0.17784	0.525000	0.51046	GCT		PASS	0.547	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		8	56	8	56	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821666	5821666	+	Missense_Mutation	SNP	G	G	T	rs200351328		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:5821666G>T	ENST00000381095.3	-	5	1680	c.1053C>A	c.(1051-1053)gaC>gaA	p.D351E	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D351E|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D371E|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D351E|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D351E	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	351					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.D351E(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTGGGGGTCGTCTGGGATGA	0.597																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1051-1053)GAC>GAA		X-linked neuroligin 4 precursor							100.0	72.0	81.0					X																	5821666		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821666G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1053C>A	X.37:g.5821666G>T	ENSP00000370485:p.Asp351Glu					NLGN4X_uc004crp.2_Missense_Mutation_p.D371E|NLGN4X_uc004crq.2_Missense_Mutation_p.D351E|NLGN4X_uc010ndi.2_Missense_Mutation_p.D388E|NLGN4X_uc004crr.2_Missense_Mutation_p.D351E|NLGN4X_uc010ndj.2_Missense_Mutation_p.D351E	p.D351E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1554	-			351			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1053C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874444	0.33069	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	3.93	-0.871	0.10642	Carboxylesterase, type B (1);	.	.	.	.	T	0.69735	0.3144	L	0.48362	1.52	0.43263	D	0.995205	P;D;B	0.58970	0.914;0.984;0.216	P;D;B	0.66716	0.656;0.946;0.104	T	0.64833	-0.6314	8	.	.	.	.	8.3509	0.32301	0.7962:0.0:0.2038:0.0	.	408;351;371	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	E	351;371;351;351;351	ENSP00000370485:D351E;ENSP00000370483:D371E;ENSP00000275857:D351E;ENSP00000370482:D351E;ENSP00000439203:D351E	.	D	-	3	2	NLGN4X	5831666	0.988000	0.35896	0.509000	0.27700	0.216000	0.24613	0.241000	0.18065	-0.178000	0.10672	-0.191000	0.12829	GAC		PASS	0.597	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		11	62	11	62	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17743832	17743832	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:17743832G>T	ENST00000380060.3	+	6	1881	c.1543G>T	c.(1543-1545)Ggt>Tgt	p.G515C	NHS_ENST00000398097.3_Missense_Mutation_p.G359C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	536					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G359C(1)|p.G515C(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTCTTTTGTGGGTGACCATGA	0.547																																						uc004cxx.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1543-1545)GGT>TGT		Nance-Horan syndrome protein isoform 1							61.0	58.0	59.0					X																	17743832		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743832G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1543G>T	X.37:g.17743832G>T	ENSP00000369400:p.Gly515Cys					NHS_uc011mix.1_Missense_Mutation_p.G536C|NHS_uc004cxy.2_Missense_Mutation_p.G359C|NHS_uc004cxz.2_Missense_Mutation_p.G338C|NHS_uc004cya.2_Missense_Mutation_p.G238C	p.G515C	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	1881	+	Hepatocellular(33;0.183)		515					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1543G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993884	0.19043	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.47528	0.84;0.85	5.86	3.12	0.35913	.	0.660669	0.16425	N	0.214998	T	0.42899	0.1223	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.50272	0.82;0.82;0.82;0.933	P;P;P;P	0.46479	0.518;0.518;0.518;0.513	T	0.29366	-1.0014	10	0.56958	D	0.05	-0.9989	5.8514	0.18696	0.2145:0.2519:0.5337:0.0	.	536;357;359;515	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	515;359;357	ENSP00000369400:G515C;ENSP00000381170:G359C	ENSP00000369397:G357C	G	+	1	0	NHS	17653753	0.335000	0.24748	0.002000	0.10522	0.791000	0.44710	3.336000	0.52113	0.235000	0.21160	-0.174000	0.13273	GGT		PASS	0.547	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		7	107	7	107	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19013118	19013118	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:19013118T>A	ENST00000379869.3	-	28	2928	c.2765A>T	c.(2764-2766)cAa>cTa	p.Q922L	GPR64_ENST00000379878.3_Missense_Mutation_p.Q906L|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000360279.4_Missense_Mutation_p.Q900L|GPR64_ENST00000357544.3_Missense_Mutation_p.Q892L|GPR64_ENST00000340581.3_Missense_Mutation_p.Q803L|GPR64_ENST00000354791.3_Missense_Mutation_p.Q906L|GPR64_ENST00000379876.1_Missense_Mutation_p.Q898L|GPR64_ENST00000356606.4_Missense_Mutation_p.Q908L|GPR64_ENST00000357991.3_Missense_Mutation_p.Q919L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	922					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.Q919L(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGACACTCCTTGGTTTACAGT	0.423																																						uc004cyx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2764-2766)CAA>CTA		G protein-coupled receptor 64 isoform 1							217.0	169.0	185.0					X																	19013118		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19013118T>A	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2765A>T	X.37:g.19013118T>A	ENSP00000369198:p.Gln922Leu					GPR64_uc004cyy.2_Missense_Mutation_p.Q919L|GPR64_uc004cyz.2_Missense_Mutation_p.Q908L|GPR64_uc004czb.2_Intron|GPR64_uc004czc.2_Missense_Mutation_p.Q906L|GPR64_uc004czd.2_Missense_Mutation_p.Q898L|GPR64_uc004cze.2_Missense_Mutation_p.Q892L|GPR64_uc004czf.2_Missense_Mutation_p.Q884L|GPR64_uc004cza.2_Missense_Mutation_p.Q900L|GPR64_uc004cyw.2_Intron|GPR64_uc010nfj.2_Missense_Mutation_p.Q803L	p.Q922L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			28	2929	-	Hepatocellular(33;0.183)		922			Cytoplasmic (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2765A>T	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.695898	0.68386	.	.	ENSG00000173698	ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.43;1.43;1.46;1.43;1.46;1.46;1.43	5.23	5.23	0.72850	.	0.000000	0.49305	D	0.000148	T	0.38054	0.1026	N	0.16368	0.405	0.41410	D	0.987737	P;D;D;D;D;D;D;D;D	0.76494	0.926;0.999;0.995;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.956;0.999;0.996;0.999;0.999;0.999;0.999;0.999;0.997	T	0.23048	-1.0199	10	0.27785	T	0.31	.	14.2276	0.65871	0.0:0.0:0.0:1.0	.	803;884;892;898;906;900;908;919;922	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9	.;.;.;.;.;.;.;.;GPR64_HUMAN	L	906;906;898;892;922;900;919;908;803	ENSP00000369207:Q906L;ENSP00000346845:Q906L;ENSP00000369205:Q898L;ENSP00000350152:Q892L;ENSP00000369198:Q922L;ENSP00000353421:Q900L;ENSP00000350680:Q919L;ENSP00000349015:Q908L;ENSP00000344972:Q803L	ENSP00000344972:Q803L	Q	-	2	0	GPR64	18923039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.325000	0.59234	1.737000	0.51674	0.486000	0.48141	CAA		PASS	0.423	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			15	70	15	70	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19018072	19018072	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:19018072G>T	ENST00000379869.3	-	25	2400	c.2237C>A	c.(2236-2238)cCa>cAa	p.P746Q	GPR64_ENST00000379878.3_Missense_Mutation_p.P730Q|GPR64_ENST00000379873.2_Missense_Mutation_p.P746Q|GPR64_ENST00000360279.4_Missense_Mutation_p.P724Q|GPR64_ENST00000357544.3_Missense_Mutation_p.P716Q|GPR64_ENST00000340581.3_Missense_Mutation_p.P627Q|GPR64_ENST00000354791.3_Missense_Mutation_p.P730Q|GPR64_ENST00000379876.1_Missense_Mutation_p.P722Q|GPR64_ENST00000356606.4_Missense_Mutation_p.P732Q|GPR64_ENST00000357991.3_Missense_Mutation_p.P743Q	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	746					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.P743Q(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AACCACAGCTGGTACCCCTGG	0.453																																						uc004cyx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2236-2238)CCA>CAA		G protein-coupled receptor 64 isoform 1							144.0	121.0	129.0					X																	19018072		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19018072G>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2237C>A	X.37:g.19018072G>T	ENSP00000369198:p.Pro746Gln					GPR64_uc004cyy.2_Missense_Mutation_p.P743Q|GPR64_uc004cyz.2_Missense_Mutation_p.P732Q|GPR64_uc004czb.2_Missense_Mutation_p.P746Q|GPR64_uc004czc.2_Missense_Mutation_p.P730Q|GPR64_uc004czd.2_Missense_Mutation_p.P722Q|GPR64_uc004cze.2_Missense_Mutation_p.P716Q|GPR64_uc004czf.2_Missense_Mutation_p.P708Q|GPR64_uc004cza.2_Missense_Mutation_p.P724Q|GPR64_uc004cyw.2_Missense_Mutation_p.P730Q|GPR64_uc010nfj.2_Missense_Mutation_p.P627Q	p.P746Q	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			25	2401	-	Hepatocellular(33;0.183)		746			Helical; Name=4; (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2237C>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581363	0.86748	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	D;D;D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.87	5.87	0.94306	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000044	D	0.95146	0.8427	H	0.95611	3.695	0.80722	D	1	D;D;D;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;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96076	0.9050	10	0.87932	D	0	.	19.3889	0.94570	0.0:0.0:1.0:0.0	.	627;708;716;722;730;746;724;732;743;746;730	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Q	746;730;730;722;716;746;724;743;732;627	ENSP00000369202:P746Q;ENSP00000369207:P730Q;ENSP00000346845:P730Q;ENSP00000369205:P722Q;ENSP00000350152:P716Q;ENSP00000369198:P746Q;ENSP00000353421:P724Q;ENSP00000350680:P743Q;ENSP00000349015:P732Q;ENSP00000344972:P627Q	ENSP00000344972:P627Q	P	-	2	0	GPR64	18927993	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	8.341000	0.90046	2.618000	0.88619	0.600000	0.82982	CCA		PASS	0.453	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			20	104	20	104	---	---	---	---
PDHA1	5160	broad.mit.edu	37	X	19373469	19373469	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:19373469C>A	ENST00000422285.2	+	7	711	c.606C>A	c.(604-606)ggC>ggA	p.G202G	PDHA1_ENST00000545074.1_Silent_p.G209G|PDHA1_ENST00000540249.1_Silent_p.G171G|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000379806.5_Silent_p.G240G			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	202					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.G202G(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					ACTTCCAGGGCCAGATATTCG	0.438																																						uc004czg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(604-606)GGC>GGA		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						145.0	136.0	139.0					X																	19373469		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19373469C>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.606C>A	X.37:g.19373469C>A						PDHA1_uc004czh.3_Silent_p.G237G|PDHA1_uc011mjc.1_Silent_p.G206G|PDHA1_uc011mjd.1_Silent_p.G168G|PDHA1_uc010nfk.2_Silent_p.G199G|PDHA1_uc010nfl.2_5'UTR	p.G202G	NM_000284	NP_000275	P08559	ODPA_HUMAN			7	751	+	Hepatocellular(33;0.183)		202					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.606C>A	CCDS14192.1																																																																																				PASS	0.438	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			22	135	22	135	---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30873249	30873249	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:30873249G>T	ENST00000378933.1	-	3	710	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	TAB3_ENST00000378930.3_Missense_Mutation_p.P178Q|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.P178Q|TAB3_ENST00000378932.2_Missense_Mutation_p.P178Q|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	178	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.P178Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						AGGTGGCGGTGGTGGTGAAGG	0.488																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(532-534)CCA>CAA		mitogen-activated protein kinase kinase kinase 7							198.0	145.0	163.0					X																	30873249		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873249G>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.533C>A	X.37:g.30873249G>T	ENSP00000368215:p.Pro178Gln					TAB3_uc004dck.2_Missense_Mutation_p.P178Q|TAB3_uc010ngl.2_Missense_Mutation_p.P178Q	p.P178Q	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1196	-			178			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.533C>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099234	0.56183	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.64	5.01	5.01	0.66863	.	0.173707	0.49916	D	0.000132	T	0.65217	0.2670	N	0.08118	0	0.45415	D	0.99839	D;D	0.69078	0.997;0.995	P;P	0.59288	0.855;0.72	T	0.71066	-0.4700	10	0.52906	T	0.07	-2.2378	13.0067	0.58710	0.0:0.0:1.0:0.0	.	178;178	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Q	178	ENSP00000368215:P178Q;ENSP00000368212:P178Q;ENSP00000288422:P178Q;ENSP00000368214:P178Q	ENSP00000288422:P178Q	P	-	2	0	TAB3	30783170	0.998000	0.40836	0.597000	0.28824	0.955000	0.61496	4.294000	0.59043	2.219000	0.72066	0.600000	0.82982	CCA		PASS	0.488	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		19	81	19	81	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	40994071	40994071	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:40994071G>T	ENST00000324545.8	+	5	1049	c.416G>T	c.(415-417)gGc>gTc	p.G139V	USP9X_ENST00000378308.2_Missense_Mutation_p.G139V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	139					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.G139V(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCAGTGAGTGGCTGGAAGTTT	0.393																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(415-417)GGC>GTC		ubiquitin specific protease 9, X-linked isoform							115.0	106.0	109.0					X																	40994071		2195	4298	6493	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40994071G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.416G>T	X.37:g.40994071G>T	ENSP00000316357:p.Gly139Val					USP9X_uc004dfc.2_Missense_Mutation_p.G139V	p.G139V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			5	1049	+			139					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.416G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.121518	0.77436	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02916	4.11;4.11	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.56769	1.78	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.60949	0.881;0.764	T	0.01121	-1.1445	10	0.54805	T	0.06	.	17.9096	0.88930	0.0:0.0:1.0:0.0	.	139;139	Q93008-1;Q93008	.;USP9X_HUMAN	V	139	ENSP00000367558:G139V;ENSP00000316357:G139V	ENSP00000316357:G139V	G	+	2	0	USP9X	40879015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.448000	0.97600	2.250000	0.74265	0.534000	0.68092	GGC		PASS	0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	59	5	59	---	---	---	---
WAS	7454	broad.mit.edu	37	X	48545326	48545326	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:48545326G>T	ENST00000376701.4	+	7	791	c.716G>T	c.(715-717)gGt>gTt	p.G239V	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	239	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.G239V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GCTGATATTGGTGCACCCAGT	0.547			"""Mis, N, F, S"""			lymphoma																																uc004dkm.3				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Mis|N|F|S	Wiskott-Aldrich syndrome			L		lymphoma			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(715-717)GGT>GTT		Wiskott-Aldrich syndrome protein							72.0	60.0	64.0					X																	48545326		2202	4300	6502	SO:0001583	missense	7454	Wiskott-Aldrich_syndrome			blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48545326G>T	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.716G>T	X.37:g.48545326G>T	ENSP00000365891:p.Gly239Val						p.G239V	NM_000377	NP_000368	P42768	WASP_HUMAN			7	773	+		all_lung(315;1.27e-10)	239			CRIB.		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.716G>T	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938234	0.73557	.	.	ENSG00000015285	ENST00000376701	D	0.89617	-2.54	4.39	4.39	0.52855	PAK-box/P21-Rho-binding (3);	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95464	0.8545	10	0.87932	D	0	-9.7458	13.6192	0.62128	0.0:0.0:1.0:0.0	.	239	P42768	WASP_HUMAN	V	239	ENSP00000365891:G239V	ENSP00000365891:G239V	G	+	2	0	WAS	48430270	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	8.868000	0.92320	1.777000	0.52277	0.279000	0.19357	GGT		PASS	0.547	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		5	23	5	23	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958015	49958015	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:49958015G>T	ENST00000376056.2	-	5	1472	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y	AKAP4_ENST00000358526.2_Missense_Mutation_p.S450Y|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S441Y					A kinase (PRKA) anchor protein 4									p.S450Y(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGCTTTTAAAGATGCATATGA	0.448																																						uc004dow.1																			1	Substitution - Missense(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(1348-1350)TCT>TAT		A-kinase anchor protein 4 isoform 1							108.0	101.0	103.0					X																	49958015		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958015G>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1322C>A	X.37:g.49958015G>T	ENSP00000365224:p.Ser441Tyr					AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S272Y|AKAP4_uc004dou.1_Missense_Mutation_p.S441Y	p.S450Y	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	1473	-	Ovarian(276;0.236)		450						Missense_Mutation	SNP	ENST00000376056.2	37	c.1349C>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833385	0.32421	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.13420	2.59;2.59;2.59	4.6	4.6	0.57074	A-kinase anchor 110kDa, C-terminal (1);	0.145269	0.32068	N	0.006622	T	0.26011	0.0634	M	0.71036	2.16	0.58432	D	0.999998	D	0.55385	0.971	P	0.52386	0.697	T	0.01702	-1.1292	9	.	.	.	-4.5326	12.0313	0.53399	0.0:0.0:1.0:0.0	.	450	Q5JQC9	AKAP4_HUMAN	Y	441;450;441	ENSP00000365224:S441Y;ENSP00000351327:S450Y;ENSP00000365232:S441Y	.	S	-	2	0	AKAP4	49844755	0.965000	0.33210	0.453000	0.27007	0.406000	0.30931	3.970000	0.56824	1.881000	0.54492	0.468000	0.43344	TCT		PASS	0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		19	77	19	77	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53610791	53610791	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:53610791G>T	ENST00000342160.3	-	41	5704	c.5247C>A	c.(5245-5247)ggC>ggA	p.G1749G	HUWE1_ENST00000262854.6_Silent_p.G1749G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1749					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.G1612G(1)|p.G1749G(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTCTGTCAAGCCCTGGATCA	0.498																																						uc004dsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(5245-5247)GGC>GGA		HECT, UBA and WWE domain containing 1							77.0	67.0	71.0					X																	53610791		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53610791G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5247C>A	X.37:g.53610791G>T						HUWE1_uc004dsn.2_Silent_p.G574G	p.G1749G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			42	5649	-			1749					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.5247C>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	9.486	1.099386	0.20552	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.6	1.75	0.24633	.	.	.	.	.	T	0.42040	0.1185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	0.5848	0.00718	0.3146:0.1665:0.3438:0.1751	.	.	.	.	I	783	.	.	L	-	1	0	HUWE1	53627516	0.994000	0.37717	0.999000	0.59377	0.983000	0.72400	0.242000	0.18087	0.145000	0.18977	-0.192000	0.12808	CTT		PASS	0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		11	38	11	38	---	---	---	---
KLF8	11279	broad.mit.edu	37	X	56296637	56296637	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:56296637C>A	ENST00000468660.1	+	5	1069	c.781C>A	c.(781-783)Cag>Aag	p.Q261K	KLF8_ENST00000374928.3_Intron	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	261					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.Q261K(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GGCCCAAATGCAGGGAGAAGA	0.418																																						uc004dur.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)CAG>AAG		Kruppel-like factor 8 isoform 1							119.0	90.0	100.0					X																	56296637		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56296637C>A	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.781C>A	X.37:g.56296637C>A	ENSP00000417303:p.Gln261Lys					KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA	p.Q261K	NM_007250	NP_009181	O95600	KLF8_HUMAN			5	1727	+			261					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.781C>A	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	C	6.166	0.398859	0.11696	.	.	ENSG00000102349	ENST00000468660	T	0.05855	3.38	3.76	2.84	0.33178	.	0.677344	0.14202	N	0.334616	T	0.06188	0.0160	L	0.52759	1.655	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.15122	-1.0448	10	0.06757	T	0.87	.	9.7544	0.40494	0.2088:0.7912:0.0:0.0	.	261	O95600	KLF8_HUMAN	K	261	ENSP00000417303:Q261K	ENSP00000417303:Q261K	Q	+	1	0	KLF8	56313362	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	4.864000	0.62990	0.636000	0.30508	0.534000	0.68092	CAG		PASS	0.418	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		13	46	13	46	---	---	---	---
MSN	4478	broad.mit.edu	37	X	64957195	64957195	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:64957195C>G	ENST00000360270.5	+	10	1418	c.1246C>G	c.(1246-1248)Cag>Gag	p.Q416E		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	416					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.Q416E(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GACTCAGGAACAGCTGGTAAA	0.517			T	ALK	ALCL																																	uc004dwf.2				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(1246-1248)CAG>GAG		moesin							23.0	23.0	23.0					X																	64957195		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64957195C>G	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1246C>G	X.37:g.64957195C>G	ENSP00000353408:p.Gln416Glu						p.Q416E	NM_002444	NP_002435	P26038	MOES_HUMAN			10	1444	+			416						Missense_Mutation	SNP	ENST00000360270.5	37	c.1246C>G	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448659	0.43531	.	.	ENSG00000147065	ENST00000360270	D	0.82167	-1.58	4.97	4.97	0.65823	Ezrin/radixin/moesin, C-terminal (1);	0.162937	0.56097	D	0.000023	T	0.81356	0.4805	L	0.61387	1.9	0.45464	D	0.998434	B	0.09022	0.002	B	0.21360	0.034	T	0.77140	-0.2697	10	0.32370	T	0.25	.	15.785	0.78294	0.0:1.0:0.0:0.0	.	416	P26038	MOES_HUMAN	E	416	ENSP00000353408:Q416E	ENSP00000353408:Q416E	Q	+	1	0	MSN	64873920	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.735000	0.68587	2.294000	0.77228	0.594000	0.82650	CAG		PASS	0.517	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		7	23	7	23	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69510564	69510564	+	Silent	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:69510564C>G	ENST00000374403.3	+	3	226	c.144C>G	c.(142-144)tcC>tcG	p.S48S	PDZD11_ENST00000473667.1_5'Flank|PDZD11_ENST00000374454.1_5'Flank|KIF4A_ENST00000485406.1_3'UTR|PDZD11_ENST00000239666.4_5'Flank|KIF4A_ENST00000374388.3_Silent_p.S48S	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	48	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S48S(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGATAAATCCTTCACCTACG	0.453																																						uc004dyg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(142-144)TCC>TCG		kinesin family member 4							131.0	99.0	110.0					X																	69510564		2203	4300	6503	SO:0001819	synonymous_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69510564C>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.144C>G	X.37:g.69510564C>G						KIF4A_uc010nkw.2_Silent_p.S48S|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.1_Silent_p.S48S	p.S48S	NM_012310	NP_036442	O95239	KIF4A_HUMAN			3	271	+			48			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	c.144C>G	CCDS14401.1																																																																																				PASS	0.453	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		13	55	13	55	---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75003990	75003990	+	Silent	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:75003990C>A	ENST00000373359.2	-	1	1089	c.897G>T	c.(895-897)ctG>ctT	p.L299L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	299								p.L299L(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCAGCAGTCAGGCTTCTTT	0.468																																						uc004ecj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(895-897)CTG>CTT		melanoma antigen family E, 2							74.0	67.0	70.0					X																	75003990		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75003990C>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.897G>T	X.37:g.75003990C>A							p.L299L	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1082	-			299					Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.897G>T	CCDS14431.1																																																																																				PASS	0.468	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		8	76	8	76	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79999630	79999630	+	Silent	SNP	A	A	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:79999630A>G	ENST00000373275.4	-	8	930	c.714T>C	c.(712-714)gcT>gcC	p.A238A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	238					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.A238A(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGCTGCCTGCAGCAATAAGAG	0.453																																						uc004edt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(712-714)GCT>GCC		bromodomain and WD repeat domain containing 3							132.0	111.0	118.0					X																	79999630		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79999630A>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.714T>C	X.37:g.79999630A>G						BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Silent_p.A67A|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.A238A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	977	-			238			WD 3.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.714T>C	CCDS14447.1																																																																																				PASS	0.453	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		8	43	8	43	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84502603	84502603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:84502603G>T	ENST00000373165.3	+	3	331	c.25G>T	c.(25-27)Gga>Tga	p.G9*	ZNF711_ENST00000360700.4_Nonsense_Mutation_p.G9*|ZNF711_ENST00000276123.3_Nonsense_Mutation_p.G9*|ZNF711_ENST00000395402.1_5'UTR	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	9					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.G9*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGAAGTCTTGGATTGCACAC	0.338																																						uc004eeo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(25-27)GGA>TGA		zinc finger protein 711							143.0	131.0	135.0					X																	84502603		2203	4300	6503	SO:0001587	stop_gained	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84502603G>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.25G>T	X.37:g.84502603G>T	ENSP00000362260:p.Gly9*					ZNF711_uc004eep.2_Nonsense_Mutation_p.G9*|ZNF711_uc004eeq.2_Nonsense_Mutation_p.G9*	p.G9*	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			3	372	+			9					B4DSV4|Q6NX42|Q9Y4J6	Nonsense_Mutation	SNP	ENST00000373165.3	37	c.25G>T	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	g	41	9.061186	0.99051	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700	.	.	.	4.64	4.64	0.57946	.	0.000000	0.33023	U	0.005375	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.9411	17.0539	0.86527	0.0:0.0:1.0:0.0	.	.	.	.	X	9	.	ENSP00000276123:G9X	G	+	1	0	ZNF711	84389259	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.052000	0.93855	2.033000	0.60031	0.509000	0.49947	GGA		PASS	0.338	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		6	83	6	83	---	---	---	---
CHM	1121	broad.mit.edu	37	X	85218784	85218784	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:85218784C>A	ENST00000357749.2	-	5	617	c.588G>T	c.(586-588)atG>atT	p.M196I	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.M48I	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	196					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.M196I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CATTTTCACTCATGTCTTCTG	0.373																																						uc004eet.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)ATG>ATT		choroideremia isoform a							169.0	131.0	144.0					X																	85218784		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218784C>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.588G>T	X.37:g.85218784C>A	ENSP00000350386:p.Met196Ile					CHM_uc011mqz.1_Missense_Mutation_p.M48I	p.M196I	NM_000390	NP_000381	P24386	RAE1_HUMAN			5	618	-		all_lung(315;5.41e-06)	196					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.588G>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628799	0.03610	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.57273	0.41;0.41	4.5	3.34	0.38264	.	1.189280	0.05771	N	0.606773	T	0.37839	0.1018	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.35671	T	0.21	0.3443	4.3103	0.10967	0.0:0.2006:0.1699:0.6295	.	196	P24386	RAE1_HUMAN	I	196;48	ENSP00000350386:M196I;ENSP00000441728:M48I	ENSP00000350386:M196I	M	-	3	0	CHM	85105440	0.372000	0.25064	0.016000	0.15963	0.253000	0.25986	1.993000	0.40747	0.538000	0.28769	0.284000	0.19432	ATG		PASS	0.373	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		6	37	6	37	---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99955935	99955935	+	Missense_Mutation	SNP	C	C	A	rs548102581		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:99955935C>A	ENST00000372989.1	-	7	828	c.497G>T	c.(496-498)tGg>tTg	p.W166L	SYTL4_ENST00000276141.6_Missense_Mutation_p.W166L|SYTL4_ENST00000372981.1_Missense_Mutation_p.W166L|SYTL4_ENST00000454200.2_Missense_Mutation_p.W166L|SYTL4_ENST00000455616.1_Missense_Mutation_p.W166L|SYTL4_ENST00000263033.5_Missense_Mutation_p.W166L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	166					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.W166*(1)|p.W166L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTTCCTGGCCAGATGTCACC	0.423																																						uc004egd.3																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(2)	2						c.(496-498)TGG>TTG		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						144.0	129.0	134.0					X																	99955935		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99955935C>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.497G>T	X.37:g.99955935C>A	ENSP00000362080:p.Trp166Leu					SYTL4_uc010nnc.2_Missense_Mutation_p.W166L|SYTL4_uc004ege.3_Missense_Mutation_p.W166L|SYTL4_uc004egf.3_Missense_Mutation_p.W166L|SYTL4_uc004egg.3_Missense_Mutation_p.W166L	p.W166L	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			7	853	-			166					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.497G>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	c	3.397	-0.122997	0.06795	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.62498	2.18;2.18;2.17;2.18;2.18;0.02	5.64	5.64	0.86602	.	0.264579	0.32273	N	0.006340	T	0.56775	0.2008	L	0.47716	1.5	0.30480	N	0.772434	P;B	0.40083	0.702;0.042	B;B	0.37650	0.255;0.013	T	0.61510	-0.7048	9	.	.	.	-12.5779	16.4928	0.84206	0.0:1.0:0.0:0.0	.	166;166	Q96C24-2;Q96C24	.;SYTL4_HUMAN	L	166	ENSP00000362080:W166L;ENSP00000390252:W166L;ENSP00000403556:W166L;ENSP00000276141:W166L;ENSP00000263033:W166L;ENSP00000362072:W166L	.	W	-	2	0	SYTL4	99842591	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	2.166000	0.42406	2.367000	0.80283	0.591000	0.81541	TGG		PASS	0.423	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		15	71	15	71	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105280734	105280734	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:105280734C>G	ENST00000327674.4	-	1	651	c.316G>C	c.(316-318)Gta>Cta	p.V106L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V106L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	106					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V106L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGATCTCTACCATTGGAGTG	0.478																																						uc004eme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GTA>CTA		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						90.0	85.0	87.0					X																	105280734		2203	4299	6502	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280734C>G	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.316G>C	X.37:g.105280734C>G	ENSP00000329374:p.Val106Leu					SERPINA7_uc010npd.2_Missense_Mutation_p.V106L|SERPINA7_uc010npe.1_Missense_Mutation_p.V106L	p.V106L	NM_000354	NP_000345	P05543	THBG_HUMAN			1	332	-			106					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.316G>C	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.142	-1.100695	0.01843	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.83914	-1.78;-1.78	4.9	-4.2	0.03823	Serpin domain (3);	1.431730	0.04120	N	0.316196	T	0.66015	0.2747	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49688	-0.8913	10	0.32370	T	0.25	.	4.5238	0.11971	0.4408:0.2746:0.0:0.2846	.	106	P05543	THBG_HUMAN	L	106	ENSP00000329374:V106L;ENSP00000361644:V106L	ENSP00000329374:V106L	V	-	1	0	SERPINA7	105167390	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.029000	0.00638	-1.459000	0.01914	-0.911000	0.02809	GTA		PASS	0.478	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		15	51	15	51	---	---	---	---
ACSL4	2182	broad.mit.edu	37	X	108926550	108926550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:108926550C>A	ENST00000469796.2	-	3	562	c.166G>T	c.(166-168)Gga>Tga	p.G56*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G15*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.G56*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	56					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.G56*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TATGGACTTCCAGGTTTGTCT	0.408																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(166-168)GGA>TGA		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						226.0	214.0	218.0					X																	108926550		2203	4299	6502	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108926550C>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.166G>T	X.37:g.108926550C>A	ENSP00000419171:p.Gly56*					ACSL4_uc004eoj.2_Nonsense_Mutation_p.G15*|ACSL4_uc004eok.2_Nonsense_Mutation_p.G15*|ACSL4_uc010npp.1_Nonsense_Mutation_p.G56*	p.G56*	NM_022977	NP_075266	O60488	ACSL4_HUMAN			4	671	-			56			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.166G>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	39	7.311896	0.98203	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800;ENST00000505855;ENST00000502391;ENST00000508092;ENST00000504980	.	.	.	5.3	5.3	0.74995	.	0.097443	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.0523	18.0805	0.89440	0.0:1.0:0.0:0.0	.	.	.	.	X	15;56;56;15;56;56;56	.	ENSP00000339787:G56X	G	-	1	0	ACSL4	108813206	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.484000	0.81180	2.205000	0.71048	0.506000	0.49869	GGA		PASS	0.408	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		6	92	6	92	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123554415	123554415	+	Silent	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:123554415G>T	ENST00000371130.3	-	24	4770	c.4707C>A	c.(4705-4707)acC>acA	p.T1569T	TENM1_ENST00000422452.2_Silent_p.T1576T|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1569					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T1571T(1)									CAGAATTGTAGGTGAAGTTAT	0.493																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4705-4707)ACC>ACA		odz, odd Oz/ten-m homolog 1 isoform 3							111.0	82.0	92.0					X																	123554415		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123554415G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4707C>A	X.37:g.123554415G>T						ODZ1_uc011muj.1_Silent_p.T1575T|ODZ1_uc010nqy.2_Silent_p.T1576T	p.T1569T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			24	4771	-			1569			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.4707C>A	CCDS14609.1																																																																																				PASS	0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		9	47	9	47	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128724198	128724198	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:128724198G>C	ENST00000371113.4	+	24	2822	c.2657G>C	c.(2656-2658)cGt>cCt	p.R886P	OCRL_ENST00000357121.5_Missense_Mutation_p.R878P	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	886	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R886P(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GACCGCCAGCGTGCTATTCAG	0.502																																						uc004euq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(2656-2658)CGT>CCT		phosphatidylinositol polyphosphate 5-phosphatase							210.0	203.0	205.0					X																	128724198		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128724198G>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2657G>C	X.37:g.128724198G>C	ENSP00000360154:p.Arg886Pro					OCRL_uc004eur.2_Missense_Mutation_p.R878P|OCRL_uc010nrb.2_RNA	p.R886P	NM_000276	NP_000267	Q01968	OCRL_HUMAN			24	2822	+			886			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2657G>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584134	0.46110	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.44881	0.91;0.91	5.5	2.28	0.28536	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.187758	0.47852	D	0.000220	T	0.34716	0.0907	L	0.46157	1.445	0.42635	D	0.993394	P;B	0.41569	0.755;0.448	B;B	0.38712	0.28;0.154	T	0.22243	-1.0222	10	0.66056	D	0.02	.	10.9779	0.47478	0.2531:0.0:0.7469:0.0	.	878;886	Q01968-2;Q01968	.;OCRL_HUMAN	P	886;878	ENSP00000360154:R886P;ENSP00000349635:R878P	ENSP00000349635:R878P	R	+	2	0	OCRL	128551879	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	3.074000	0.50065	0.497000	0.27926	0.600000	0.82982	CGT		PASS	0.502	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		36	161	36	161	---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128957775	128957775	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:128957775G>T	ENST00000357166.6	-	5	758	c.367C>A	c.(367-369)Ccg>Acg	p.P123T	ZDHHC9_ENST00000491039.1_5'Flank|ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P123T|AL359542.1_ENST00000582964.1_RNA	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	123					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.P123T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						ATACGAGGCGGTGGTCGCTGG	0.488																																						uc004euv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)CCG>ACG		zinc finger, DHHC domain containing 9							134.0	133.0	133.0					X																	128957775		2203	4300	6503	SO:0001583	missense	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128957775G>T	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.367C>A	X.37:g.128957775G>T	ENSP00000349689:p.Pro123Thr					ZDHHC9_uc004euw.2_Missense_Mutation_p.P123T|ZDHHC9_uc004eux.1_Missense_Mutation_p.P123T|ZDHHC9_uc004euy.1_Missense_Mutation_p.P50T	p.P123T	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN			4	736	-			123			Cytoplasmic (Potential).		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	c.367C>A	CCDS35395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.3|24.3	4.521020|4.521020	0.85495|0.85495	.|.	.|.	ENSG00000188706|ENSG00000188706	ENST00000433917|ENST00000357166;ENST00000371064;ENST00000406492	.|T;T;T	.|0.23754	.|1.89;1.89;1.89	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.048741	.|0.85682	.|D	.|0.000000	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.79108	.|0.992	T|T	0.57277|0.57277	-0.7839|-0.7839	5|10	.|0.24483	.|T	.|0.36	-11.8576|-11.8576	18.3342|18.3342	0.90282|0.90282	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|123	.|Q9Y397	.|ZDHC9_HUMAN	Q|T	82|123	.|ENSP00000349689:P123T;ENSP00000360103:P123T;ENSP00000383991:P123T	.|ENSP00000349689:P123T	H|P	-|-	3|1	2|0	ZDHHC9|ZDHHC9	128785456|128785456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.436000|9.436000	0.97532|0.97532	2.369000|2.369000	0.80426|0.80426	0.597000|0.597000	0.82753|0.82753	CAC|CCG		PASS	0.488	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		12	81	12	81	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135961564	135961565	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:135961564_135961565CC>AA	ENST00000320676.7	-	2	176_177	c.22_23GG>TT	c.(22-24)GGa>TTa	p.G8L	SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Missense_Mutation_p.G8L|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.G8L|RBMX_ENST00000565438.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	8	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G8*(2)|p.G8L(2)|p.G8V(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GAAGAGCTTTCCTGGGCGATCT	0.411																																						uc004fae.1																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	ovary(1)	1						c.(22-24)GGA>GTA|c.(22-24)GGA>TGA		RNA binding motif protein, X-linked isoform 1																																				SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961564C>A|g.chrX:135961565C>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.22_23delinsAA	X.37:g.135961564_135961565delinsAA	ENSP00000359645:p.Gly8Leu					RBMX_uc011mwf.1_Missense_Mutation_p.G8V|RBMX_uc004fad.1_Missense_Mutation_p.G8V|RBMX_uc011mwg.1_5'UTR|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank|RBMX_uc011mwf.1_Nonsense_Mutation_p.G8*|RBMX_uc004fad.1_Nonsense_Mutation_p.G8*|RBMX_uc011mwg.1_Translation_Start_Site|RBMX_uc004faf.1_Translation_Start_Site|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank	p.G8V|p.G8*	NM_002139	NP_002130	P38159	HNRPG_HUMAN			2	233|232	-	Acute lymphoblastic leukemia(192;0.000127)		8			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000320676.7	37	c.23G>T|c.22G>T	CCDS14661.1																																																																																				PASS	0.411	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		21	112|113	21	112	---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141291217	141291217	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:141291217C>A	ENST00000247452.3	-	3	904	c.557G>T	c.(556-558)cGt>cTt	p.R186L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	186	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R186L(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CATGAACTCACGGGCTCTCTT	0.483										HNSCC(46;0.14)																												uc004fbu.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(556-558)CGT>CTT		melanoma antigen family C, 2							146.0	141.0	143.0					X																	141291217		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291217C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.557G>T	X.37:g.141291217C>A	ENSP00000354660:p.Arg186Leu	HNSCC(46;0.14)					p.R186L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	905	-	Acute lymphoblastic leukemia(192;6.56e-05)		186			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.557G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	2.555	-0.303102	0.05495	.	.	ENSG00000046774	ENST00000247452	T	0.04809	3.55	0.988	-0.0885	0.13673	.	0.847096	0.10238	U	0.698727	T	0.04272	0.0118	L	0.39020	1.185	0.09310	N	1	B	0.18610	0.029	B	0.19946	0.027	T	0.42361	-0.9456	10	0.46703	T	0.11	.	4.457	0.11647	0.0:0.5798:0.4202:0.0	.	186	Q9UBF1	MAGC2_HUMAN	L	186	ENSP00000354660:R186L	ENSP00000354660:R186L	R	-	2	0	MAGEC2	141118883	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.026000	0.12392	-0.088000	0.12506	0.284000	0.19432	CGT		PASS	0.483	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		30	201	30	201	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037578	148037578	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:148037578G>C	ENST00000370460.2	+	11	2482	c.2003G>C	c.(2002-2004)aGa>aCa	p.R668T	AFF2_ENST00000370457.5_Missense_Mutation_p.R635T|AFF2_ENST00000286437.5_Missense_Mutation_p.R309T|AFF2_ENST00000342251.3_Missense_Mutation_p.R635T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	668					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R668T(2)|p.R309T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCACCAAGAGGCCGCAAC	0.517																																						uc004fcp.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(2002-2004)AGA>ACA		fragile X mental retardation 2							84.0	89.0	87.0					X																	148037578		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037578G>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2003G>C	X.37:g.148037578G>C	ENSP00000359489:p.Arg668Thr					AFF2_uc004fcq.2_Missense_Mutation_p.R658T|AFF2_uc004fcr.2_Missense_Mutation_p.R629T|AFF2_uc011mxb.1_Missense_Mutation_p.R633T|AFF2_uc004fcs.2_Missense_Mutation_p.R635T|AFF2_uc011mxc.1_Missense_Mutation_p.R309T	p.R668T	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2482	+	Acute lymphoblastic leukemia(192;6.56e-05)		668					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2003G>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167732	0.38315	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.67	3.87	0.44632	.	0.113755	0.64402	D	0.000010	T	0.57140	0.2033	L	0.50333	1.59	0.32241	N	0.572665	D;P;P;P;P;D	0.53312	0.959;0.949;0.949;0.949;0.949;0.959	P;P;P;P;P;P	0.50860	0.652;0.52;0.52;0.52;0.52;0.652	T	0.60707	-0.7210	10	0.21540	T	0.41	.	5.1863	0.15185	0.3812:0.0:0.6188:0.0	.	309;633;635;629;658;668	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	T	668;635;635;309	ENSP00000359489:R668T;ENSP00000359486:R635T;ENSP00000345459:R635T;ENSP00000286437:R309T	ENSP00000286437:R309T	R	+	2	0	AFF2	147845278	1.000000	0.71417	0.970000	0.41538	0.954000	0.61252	3.768000	0.55295	2.372000	0.80975	0.600000	0.82982	AGA		PASS	0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		34	163	34	163	---	---	---	---
MTM1	4534	broad.mit.edu	37	X	149814185	149814185	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:149814185G>T	ENST00000370396.2	+	9	762	c.708G>T	c.(706-708)aaG>aaT	p.K236N	MTM1_ENST00000543350.1_Missense_Mutation_p.K121N|MTM1_ENST00000413012.2_Missense_Mutation_p.K199N|MTM1_ENST00000542741.1_Missense_Mutation_p.K141N|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	236	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)	p.K236N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAAAATAAGACGGTCATTG	0.378																																						uc004fef.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(706-708)AAG>AAT		myotubularin							162.0	139.0	146.0					X																	149814185		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149814185G>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.708G>T	X.37:g.149814185G>T	ENSP00000359423:p.Lys236Asn					MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.K199N|MTM1_uc011mxz.1_Missense_Mutation_p.K121N|MTM1_uc010nte.2_Missense_Mutation_p.K104N	p.K236N	NM_000252	NP_000243	Q13496	MTM1_HUMAN			9	784	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.708G>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788234	0.31593	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.93	3.22	0.36961	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.210301	0.49305	D	0.000142	T	0.79203	0.4406	N	0.17248	0.465	0.27251	N	0.958899	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.67329	-0.5698	10	0.46703	T	0.11	.	9.7175	0.40283	0.2971:0.0:0.7029:0.0	.	199;236	B7Z491;Q13496	.;MTM1_HUMAN	N	236;141;121;199	ENSP00000359423:K236N;ENSP00000444015:K141N;ENSP00000439784:K121N;ENSP00000389157:K199N	ENSP00000359423:K236N	K	+	3	2	MTM1	149564843	1.000000	0.71417	0.906000	0.35671	0.933000	0.57130	0.520000	0.22878	0.260000	0.21731	0.594000	0.82650	AAG		PASS	0.378	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		9	45	9	45	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150345263	150345263	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:150345263C>A	ENST00000218316.3	+	1	139	c.70C>A	c.(70-72)Cca>Aca	p.P24T	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	24					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.P24T(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGAATACCCACCGGCTCT	0.522																																						uc010ntg.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(70-72)CCA>ACA		G protein-coupled receptor 50							88.0	89.0	89.0					X																	150345263		1888	4097	5985	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345263C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.70C>A	X.37:g.150345263C>A	ENSP00000218316:p.Pro24Thr					uc004fes.1_Intron|GPR50_uc011myc.1_Missense_Mutation_p.P24T	p.P24T	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			1	205	+	Acute lymphoblastic leukemia(192;6.56e-05)		24			Extracellular (Potential).		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.70C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696551	0.30142	.	.	ENSG00000102195	ENST00000218316	T	0.37235	1.21	4.18	4.18	0.49190	.	0.329165	0.28653	N	0.014600	T	0.28797	0.0714	N	0.08118	0	0.38546	D	0.949335	B	0.33777	0.425	P	0.45856	0.495	T	0.39187	-0.9626	10	0.72032	D	0.01	-3.5173	10.975	0.47461	0.0:1.0:0.0:0.0	.	24	Q13585	MTR1L_HUMAN	T	24	ENSP00000218316:P24T	ENSP00000218316:P24T	P	+	1	0	GPR50	150095921	1.000000	0.71417	0.993000	0.49108	0.398000	0.30690	4.160000	0.58164	2.061000	0.61500	0.292000	0.19580	CCA		PASS	0.522	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		14	70	14	70	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150349094	150349094	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:150349094C>A	ENST00000218316.3	+	2	1108	c.1039C>A	c.(1039-1041)Cgt>Agt	p.R347S	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	347	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.R347S(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CGACCAAGCTCGTGAACAAGA	0.592																																						uc010ntg.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1039-1041)CGT>AGT		G protein-coupled receptor 50							101.0	106.0	104.0					X																	150349094		2152	4219	6371	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349094C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1039C>A	X.37:g.150349094C>A	ENSP00000218316:p.Arg347Ser					uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR	p.R347S	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1174	+	Acute lymphoblastic leukemia(192;6.56e-05)		347			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1039C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	8.800	0.932734	0.18131	.	.	ENSG00000102195	ENST00000218316	T	0.59638	0.25	3.53	0.566	0.17317	.	0.996708	0.08119	N	0.994931	T	0.32255	0.0823	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.15484	0.013	T	0.17228	-1.0376	10	0.11485	T	0.65	0.4909	2.8496	0.05553	0.1413:0.5222:0.1378:0.1987	.	347	Q13585	MTR1L_HUMAN	S	347	ENSP00000218316:R347S	ENSP00000218316:R347S	R	+	1	0	GPR50	150099752	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.861000	0.27885	-0.431000	0.07307	-1.225000	0.01585	CGT		PASS	0.592	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		5	85	5	85	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911903	150911903	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:150911903C>A	ENST00000329903.4	+	6	961	c.928C>A	c.(928-930)Cca>Aca	p.P310T		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	310					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P310T(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGTTTACCCAAACATCAC	0.493																																						uc004fey.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(928-930)CCA>ACA		cyclic nucleotide gated channel alpha 2							177.0	162.0	167.0					X																	150911903		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911903C>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.928C>A	X.37:g.150911903C>A	ENSP00000328478:p.Pro310Thr						p.P310T	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1152	+	Acute lymphoblastic leukemia(192;6.56e-05)		310			Cytoplasmic (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.928C>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342035	0.41498	.	.	ENSG00000183862	ENST00000329903	D	0.98044	-4.68	4.96	4.09	0.47781	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98248	0.9420	M	0.84082	2.675	0.48087	D	0.999584	D	0.65815	0.995	P	0.62491	0.903	D	0.98091	1.0409	10	0.59425	D	0.04	.	10.6791	0.45804	0.0:0.9026:0.0:0.0974	.	310	Q16280	CNGA2_HUMAN	T	310	ENSP00000328478:P310T	ENSP00000328478:P310T	P	+	1	0	CNGA2	150662559	1.000000	0.71417	0.972000	0.41901	0.418000	0.31294	5.739000	0.68622	0.995000	0.38917	0.529000	0.55759	CCA		PASS	0.493	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		8	175	8	175	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150912080	150912080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:150912080G>T	ENST00000329903.4	+	6	1138	c.1105G>T	c.(1105-1107)Gga>Tga	p.G369*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	369					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.G369*(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CACCATCGTGGGAAATGTGGG	0.512																																						uc004fey.1																			1	Substitution - Nonsense(1)		lung(1)	breast(3)	3						c.(1105-1107)GGA>TGA		cyclic nucleotide gated channel alpha 2							126.0	119.0	121.0					X																	150912080		2203	4300	6503	SO:0001587	stop_gained	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912080G>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1105G>T	X.37:g.150912080G>T	ENSP00000328478:p.Gly369*						p.G369*	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1329	+	Acute lymphoblastic leukemia(192;6.56e-05)		369			Helical; Name=H5; (Potential).		A0AVD0	Nonsense_Mutation	SNP	ENST00000329903.4	37	c.1105G>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706166	0.96812	.	.	ENSG00000183862	ENST00000329903	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8649	0.70406	0.0:0.0:1.0:0.0	.	.	.	.	X	369	.	ENSP00000328478:G369X	G	+	1	0	CNGA2	150662736	1.000000	0.71417	0.978000	0.43139	0.969000	0.65631	9.420000	0.97426	2.183000	0.69458	0.529000	0.55759	GGA		PASS	0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		19	103	19	103	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870096	151870096	+	Silent	SNP	C	C	T	rs368605065		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:151870096C>T	ENST00000329342.5	+	3	1011	c.786C>T	c.(784-786)ccC>ccT	p.P262P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P262P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGGTCCCCGGCAGTGATC	0.527																																						uc004ffq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(784-786)CCC>CCT		melanoma antigen family A, 6							120.0	123.0	122.0					X																	151870096		2203	4300	6503	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870096C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.786C>T	X.37:g.151870096C>T						MAGEA6_uc004ffr.1_Silent_p.P262P|MAGEA2_uc010nto.2_Intron	p.P262P	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	980	+	Acute lymphoblastic leukemia(192;6.56e-05)		262			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.786C>T	CCDS14708.1																																																																																				PASS	0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		22	120	22	120	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153043055	153043055	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:153043055G>T	ENST00000361971.5	+	31	5287	c.5173G>T	c.(5173-5175)Gtc>Ttc	p.V1725F	PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V1748F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V1378F|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1725					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.V1725F(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCATCGCCGTCAAGTACCT	0.592																																						uc004fii.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(5173-5175)GTC>TTC		plexin B3 isoform 1							198.0	149.0	166.0					X																	153043055		2203	4300	6503	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043055G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5173G>T	X.37:g.153043055G>T	ENSP00000355378:p.Val1725Phe					PLXNB3_uc010nuk.2_Missense_Mutation_p.V1748F|PLXNB3_uc011mzd.1_Missense_Mutation_p.V1364F|SRPK3_uc004fik.2_5'UTR	p.V1725F	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			31	5347	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1725			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.5173G>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824516	0.32237	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.15718	2.4;2.4;2.4	4.7	-1.46	0.08800	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.391049	0.28448	N	0.015314	T	0.40119	0.1104	M	0.86651	2.83	0.80722	D	1	D;D;D	0.65815	0.995;0.993;0.995	D;D;D	0.71870	0.96;0.958;0.975	T	0.32851	-0.9891	10	0.87932	D	0	.	10.262	0.43431	0.6048:0.0:0.3952:0.0	.	1378;1748;1725	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	F	1748;1725;1378	ENSP00000442736:V1748F;ENSP00000355378:V1725F;ENSP00000445569:V1378F	ENSP00000355378:V1725F	V	+	1	0	PLXNB3	152696249	0.868000	0.29978	0.012000	0.15200	0.000000	0.00434	1.250000	0.32850	-0.483000	0.06772	-0.344000	0.07964	GTC		PASS	0.592	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			5	184	5	184	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153588595	153588596	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:153588595_153588596TG>CT	ENST00000369850.3	-	22	3803_3804	c.3567_3568CA>AG	c.(3565-3570)ggCAgc>ggAGgc	p.S1190G	FLNA_ENST00000422373.1_Missense_Mutation_p.S1190G|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.S1190G|FLNA_ENST00000344736.4_Missense_Mutation_p.S1190G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1190					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.S1190G(2)|p.G1189G(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTCCGCGCTGCCCGCGCTCG	0.644											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fkk.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(6)	6						c.(3568-3570)AGC>GGC|c.(3565-3567)GGC>GGA		filamin A, alpha isoform 2																																				SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588595T>C|g.chrX:153588596G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3567_3568delinsCT	X.37:g.153588595_153588596delinsCT	ENSP00000358866:p.Ser1190Gly		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.S1190G|FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.G1189G	p.S1190G|p.G1189G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			22	3817|3816	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1190|1189			Filamin 10.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation|Silent	SNP	ENST00000369850.3	37	c.3568A>G|c.3567C>A	CCDS48194.1																																																																																				PASS	0.644	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	36	5	36	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153689015	153689015	+	Silent	SNP	G	G	A			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chrX:153689015G>A	ENST00000369682.3	+	2	667	c.492G>A	c.(490-492)aaG>aaA	p.K164K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	164	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.K164K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCAGCAAGCTGTTTGTGG	0.627																																						uc004flm.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(490-492)AAG>AAA		plexin A3 precursor							70.0	74.0	72.0					X																	153689015		2201	4300	6501	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689015G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.492G>A	X.37:g.153689015G>A							p.K164K	NM_017514	NP_059984	P51805	PLXA3_HUMAN			2	665	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		164			Sema.|Extracellular (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.492G>A	CCDS14752.1																																																																																				PASS	0.627	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		26	90	26	90	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						uc003gce.2																			0					0						c.(1435-1437)CACfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs	p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1596_1597	+			479			His-rich.|Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																					0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		4	2	4	2	---	---	---	---
LINC01020	340094	broad.mit.edu	37	5	5057794	5057795	+	lincRNA	INS	-	-	T	rs202220747|rs72650151	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr5:5057794_5057795insT	ENST00000508201.1	+	0	477_478									long intergenic non-protein coding RNA 1020																		TCCAACACATATTTTTTTTGAA	0.5													tTTTTTT|TTTTTTTT|TTTTTTTTT|cryptic_indel	81	0.0161741	0.0015	0.0173	5008	,	,		18466	0.0079		0.0427	False		,,,				2504	0.0164					uc003jdg.2																			0					0								Homo sapiens hypothetical protein LOC340094, mRNA (cDNA clone IMAGE:5295461).																																						340094							g.chr5:5057794_5057795insT			5p15.32	2013-07-26			ENSG00000215231	ENSG00000215231		"""Long non-coding RNAs"""	27968	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_026994		Approved				OTTHUMG00000161653		5.37:g.5057802_5057802dupT						LOC340094_uc003jdh.2_RNA		NR_026994						3		+									RNA	INS	ENST00000508201.1	37	c.428_429insT																																																																																						0.500	LINC01020-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365595.1			7	7	7	7	---	---	---	---
TDRG1	732253	broad.mit.edu	37	6	40347103	40347104	+	RNA	INS	-	-	C	rs398094127|rs11434897	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr6:40347103_40347104insC	ENST00000373170.2	+	0	644_645				TDRG1_ENST00000451810.1_RNA|TDRG1_ENST00000448433.1_RNA|TDRG1_ENST00000448559.1_RNA	NR_024015.1		Q3Y452	TDRG1_HUMAN	testis development related 1 (non-protein coding)						multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GAACTGGGAAGCCCCCCCACCC	0.515													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	779	0.155551	0.1157	0.3458	5008	,	,		18351	0.1329		0.173	False		,,,				2504	0.0798					uc003opg.2																			0					0								Homo sapiens cDNA clone IMAGE:5297318.																																						732253							g.chr6:40347103_40347104insC	DQ168992		6p21.2	2014-07-18	2011-12-13		ENSG00000204091	ENSG00000204091		"""-"""	43642	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 532"""	615676				19403381, 22123530, 24595048	Standard	NR_024015		Approved	LINC00532	uc003opg.2		OTTHUMG00000014660		6.37:g.40347110_40347110dupC								NR_024015						2		+									RNA	INS	ENST00000373170.2	37	c.557_558insC																																																																																						0.515	TDRG1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000040484.1	NR_024015		3	6	3	6	---	---	---	---
ATP6V0E2	155066	broad.mit.edu	37	7	149578672	149578673	+	IGR	INS	-	-	G	rs375035537|rs112014832	byFrequency	TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr7:149578672_149578673insG	ENST00000425642.2	+	0	1649				RP11-445N20.3_ENST00000608912.1_lincRNA|ATP6V0E2-AS1_ENST00000464939.1_RNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCTGGCTGGGCGGTGGGGCGGA	0.604														1957	0.390775	0.3154	0.4798	5008	,	,		14785	0.3065		0.5646	False		,,,				2504	0.3374					uc003wgt.1																			0													Homo sapiens cDNA clone IMAGE:40014135.																																				SO:0001628	intergenic_variant	0							g.chr7:149578672_149578673insG	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094		7.37:g.149578674_149578674dupG														1		+								A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	RNA	INS	ENST00000425642.2	37	c.109_110insG																																																																																						0.604	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470874.1	NM_145230		3	7	3	7	---	---	---	---
LINC01388	101929179	broad.mit.edu	37	9	102842	102842	+	lincRNA	DEL	G	G	-			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr9:102842delG	ENST00000435421.1	-	0	8																											GTCAGCACGTGGCACTCAGCT	0.423																																						uc003zfy.2																			0													Homo sapiens chromosome 2 mRNA sequence.																																						0							g.chr9:102842delG																													9.37:g.102842delG														1		-									RNA	DEL	ENST00000435421.1	37	c.100delC																																																																																						0.423	RP11-143M1.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000055437.1			4	2	4	2	---	---	---	---
LINC01503	100506119	broad.mit.edu	37	9	132106612	132106612	+	lincRNA	DEL	A	A	-			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr9:132106612delA	ENST00000436710.1	+	0	727																											AGCGGCATTGAAAAAACCCTC	0.587																																						uc004bxu.2																			0													Homo sapiens cDNA clone IMAGE:6277875, partial cds.																																						0							g.chr9:132106612delA																													9.37:g.132106612delA														1		+									RNA	DEL	ENST00000436710.1	37	c.918delA																																																																																						0.587	RP11-65J3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000054572.4			4	2	4	2	---	---	---	---
LINC00839	84856	broad.mit.edu	37	10	42990170	42990170	+	lincRNA	DEL	G	G	-			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr10:42990170delG	ENST00000429940.2	+	0	1639					NR_026827.1				long intergenic non-protein coding RNA 839																		taccacgtttggttTCAAATG	0.468																																						uc001izy.2																			0					0								Homo sapiens cDNA FLJ33470 fis, clone BRAMY2002044.																																						84856							g.chr10:42990170delG			10q11.21	2012-12-20			ENSG00000185904	ENSG00000185904		"""Long non-coding RNAs"""	28269	protein-coding gene	gene with protein product						12477932	Standard	NR_026827		Approved		uc001izy.3		OTTHUMG00000018010		10.37:g.42990170delG						LOC84856_uc009xmf.2_RNA|LOC84856_uc001izz.1_RNA		NR_026827						5		+									RNA	DEL	ENST00000429940.2	37	c.1691delG																																																																																						0.468	LINC00839-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047672.2	NR_026827		4	2	4	2	---	---	---	---
Unknown	0	broad.mit.edu	37	15	67155912	67155912	+	IGR	DEL	A	A	-			TCGA-66-2734-01A-01D-0983-08	TCGA-66-2734-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f7a24a2-10e2-4039-ad27-13d7ec28ff36	e18d5713-e75d-49ca-857e-0d974b3a0282	g.chr15:67155912delA								SMAD6 (81574 upstream) : RP11-798K3.4 (56236 downstream)																							agatgtggctaaaatgccacc	0.483											OREG0023212	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aqh.1																			0													Homo sapiens mRNA; cDNA DKFZp686F0429 (from clone DKFZp686F0429).																																				SO:0001628	intergenic_variant	0							g.chr15:67155912delA																													15.37:g.67155912delA			OREG0023212	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	uc002aqi.2_5'Flank								1		+									RNA	DEL		37	c.3272delA																																																																																				0		0.483									4	2	4	2	---	---	---	---
