#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
AGRN	375790	broad.mit.edu	37	1	977425	977425	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:977425G>T	ENST00000379370.2	+	7	1317	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	423	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.G423W(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CACCTGTGACGGGGCCTACAG	0.697																																						uc001ack.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(1267-1269)GGG>TGG		agrin precursor							30.0	33.0	32.0					1																	977425		2200	4294	6494	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:977425G>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1267G>T	1.37:g.977425G>T	ENSP00000368678:p.Gly423Trp						p.G423W	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	7	1317	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	423			Kazal-like 4.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.1267G>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113596	0.56398	.	.	ENSG00000188157	ENST00000379370	T	0.75477	-0.94	4.89	4.89	0.63831	Proteinase inhibitor I1, Kazal (2);	0.079450	0.50627	D	0.000120	D	0.83825	0.5338	M	0.70275	2.135	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	D	0.85251	0.1044	10	0.72032	D	0.01	-28.3632	11.2383	0.48953	0.0864:0.0:0.9136:0.0	.	423	O00468	AGRIN_HUMAN	W	423	ENSP00000368678:G423W	ENSP00000368678:G423W	G	+	1	0	AGRN	967288	1.000000	0.71417	0.847000	0.33407	0.939000	0.58152	3.563000	0.53784	2.239000	0.73571	0.609000	0.83330	GGG		PASS	0.697	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		17	4	17	4	---	---	---	---
CCNL2	81669	broad.mit.edu	37	1	1325625	1325625	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:1325625G>C	ENST00000400809.3	-	8	996	c.991C>G	c.(991-993)Cct>Gct	p.P331A	CCNL2_ENST00000408952.5_Missense_Mutation_p.P109A|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	331					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P331A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGGGGGCAGGAGAGAACCCC	0.587																																						uc001afi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(991-993)CCT>GCT		cyclin L2 isoform A							74.0	81.0	79.0					1																	1325625		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325625G>C	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.991C>G	1.37:g.1325625G>C	ENSP00000383611:p.Pro331Ala					CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.P109A|CCNL2_uc001afg.1_Missense_Mutation_p.P109A|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.P331A	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	1023	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	331					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.991C>G	CCDS30557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.74|10.74	1.434787|1.434787	0.25813|0.25813	.|.	.|.	ENSG00000221978|ENSG00000221978	ENST00000400809|ENST00000408952	T|.	0.33865|.	1.39|.	5.13|5.13	4.2|4.2	0.49525|0.49525	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.75810|0.75810	0.3900|0.3900	M|M	0.80982|0.80982	2.52|2.52	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.56521|.	0.976|.	P|.	0.47206|.	0.541|.	T|T	0.78853|0.78853	-0.2040|-0.2040	10|6	0.30078|0.54805	T|T	0.28|0.06	.|.	14.0438|14.0438	0.64693|0.64693	0.0:0.0:0.8482:0.1518|0.0:0.0:0.8482:0.1518	.|.	331|.	Q96S94|.	CCNL2_HUMAN|.	A|C	331|107	ENSP00000383611:P331A|.	ENSP00000383611:P331A|ENSP00000386132:S107C	P|S	-|-	1|2	0|0	CCNL2|CCNL2	1315488|1315488	1.000000|1.000000	0.71417|0.71417	0.783000|0.783000	0.31826|0.31826	0.029000|0.029000	0.11900|0.11900	8.760000|8.760000	0.91671|0.91671	1.353000|1.353000	0.45828|0.45828	0.650000|0.650000	0.86243|0.86243	CCT|TCC		PASS	0.587	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		6	70	6	70	---	---	---	---
CCNL2	81669	broad.mit.edu	37	1	1325636	1325636	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:1325636G>A	ENST00000400809.3	-	8	985	c.980C>T	c.(979-981)tCg>tTg	p.S327L	CCNL2_ENST00000408952.5_Missense_Mutation_p.S105L|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	327					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S327L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGAGAACCCCGAGGTACCATC	0.592																																						uc001afi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(979-981)TCG>TTG		cyclin L2 isoform A							76.0	84.0	81.0					1																	1325636		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325636G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.980C>T	1.37:g.1325636G>A	ENSP00000383611:p.Ser327Leu					CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.S105L|CCNL2_uc001afg.1_Missense_Mutation_p.S105L|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.S327L	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	1012	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	327					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.980C>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547373	0.45383	.	.	ENSG00000221978	ENST00000400809	T	0.32753	1.44	5.13	5.13	0.70059	.	0.544230	0.17867	N	0.159340	T	0.29458	0.0734	L	0.54323	1.7	0.09310	N	1	B	0.33073	0.396	B	0.19666	0.026	T	0.16129	-1.0413	10	0.34782	T	0.22	.	17.7455	0.88419	0.0:0.0:1.0:0.0	.	327	Q96S94	CCNL2_HUMAN	L	327	ENSP00000383611:S327L	ENSP00000383611:S327L	S	-	2	0	CCNL2	1315499	0.951000	0.32395	0.006000	0.13384	0.001000	0.01503	6.360000	0.73064	2.682000	0.91365	0.650000	0.86243	TCG		PASS	0.592	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		8	72	8	72	---	---	---	---
CDK11A	728642	broad.mit.edu	37	1	1636454	1636454	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:1636454C>A	ENST00000378633.1	-	13	1435	c.1356G>T	c.(1354-1356)gtG>gtT	p.V452V	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000356200.3_Silent_p.V415V|CDK11A_ENST00000404249.3_Silent_p.V449V|CDK11A_ENST00000357760.2_Silent_p.V448V|CDK11A_ENST00000378638.2_Silent_p.V415V|CDK11A_ENST00000358779.5_Silent_p.V439V			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	452	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V464V(1)|p.V448V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCTTTAGAGCCACAATTTCAT	0.532																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.2																			2	Substitution - coding silent(2)		lung(2)	stomach(1)	1						c.(1345-1347)GTG>GTT		cell division cycle 2-like 2 isoform 1							69.0	102.0	91.0					1																	1636454		1855	4078	5933	SO:0001819	synonymous_variant	728642				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1636454C>A	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1356G>T	1.37:g.1636454C>A						CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Silent_p.V66V|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.V439V|CDK11A_uc010nys.1_Silent_p.V439V|CDK11A_uc010nyt.1_Silent_p.V449V	p.V449V	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN			13	1455	-			452			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37	c.1347G>T																																																																																					PASS	0.532	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		6	129	6	129	---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6206373	6206373	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:6206373C>A	ENST00000262450.3	-	11	1800	c.1701G>T	c.(1699-1701)aaG>aaT	p.K567N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.K567N(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGTTCTTCCTCTTCTCGCTCT	0.527																																						uc001amb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(1699-1701)AAG>AAT		chromodomain helicase DNA binding protein 5							173.0	172.0	172.0					1																	6206373		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206373C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1701G>T	1.37:g.6206373C>A	ENSP00000262450:p.Lys567Asn					CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	p.K567N	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	11	1801	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	567					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1701G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411031	0.62399	.	.	ENSG00000116254	ENST00000262450;ENST00000378006	D	0.91237	-2.81	3.85	0.815	0.18763	.	0.000000	0.85682	D	0.000000	D	0.92681	0.7674	M	0.84511	2.7	0.80722	D	1	D	0.62365	0.991	P	0.55011	0.766	D	0.90503	0.4475	10	0.59425	D	0.04	-30.5815	8.3732	0.32427	0.0:0.5634:0.0:0.4366	.	567	Q8TDI0	CHD5_HUMAN	N	567;83	ENSP00000262450:K567N	ENSP00000262450:K567N	K	-	3	2	CHD5	6128960	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.171000	0.31896	0.062000	0.16340	0.462000	0.41574	AAG		PASS	0.527	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		5	52	5	52	---	---	---	---
TNFRSF9	3604	broad.mit.edu	37	1	7995201	7995201	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:7995201C>A	ENST00000377507.3	-	6	582	c.416G>T	c.(415-417)tGt>tTt	p.C139F		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	139					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.C139F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCAAAGAACAGCTTAGACA	0.433																																						uc001aot.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(415-417)TGT>TTT		tumor necrosis factor receptor superfamily,							78.0	67.0	71.0					1																	7995201		2203	4300	6503	SO:0001583	missense	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7995201C>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.416G>T	1.37:g.7995201C>A	ENSP00000366729:p.Cys139Phe						p.C139F	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	6	544	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	139			Extracellular (Potential).|TNFR-Cys 4.			Missense_Mutation	SNP	ENST00000377507.3	37	c.416G>T	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555060	0.45487	.	.	ENSG00000049249	ENST00000377507	T	0.75260	-0.92	5.44	5.44	0.79542	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	H	0.94734	3.575	0.54753	D	0.99998	D	0.89917	1.0	D	0.80764	0.994	D	0.92107	0.5693	10	0.87932	D	0	-16.256	14.7549	0.69557	0.0:1.0:0.0:0.0	.	139	Q07011	TNR9_HUMAN	F	139	ENSP00000366729:C139F	ENSP00000366729:C139F	C	-	2	0	TNFRSF9	7917788	0.993000	0.37304	0.916000	0.36221	0.219000	0.24729	3.482000	0.53186	2.551000	0.86045	0.557000	0.71058	TGT		PASS	0.433	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			5	32	5	32	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11589653	11589653	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:11589653G>C	ENST00000294484.6	+	14	2977	c.2839G>C	c.(2839-2841)Ggg>Cgg	p.G947R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G947R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	947					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.G1164R(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCCTTCCACGGGCGCGTATG	0.627																																						uc001ash.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(2839-2841)GGG>CGG		patched domain containing 2							55.0	60.0	58.0					1																	11589653		1991	4145	6136	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11589653G>C	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2839G>C	1.37:g.11589653G>C	ENSP00000294484:p.Gly947Arg						p.G947R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	14	2977	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	947			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.2839G>C	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765216	0.69878	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90900	-2.75;-2.75	4.82	4.82	0.62117	.	0.063250	0.64402	D	0.000007	D	0.91506	0.7318	L	0.27053	0.805	0.54753	D	0.999989	D	0.76494	0.999	D	0.65010	0.931	D	0.92995	0.6418	10	0.72032	D	0.01	-27.0884	16.8747	0.86048	0.0:0.0:1.0:0.0	.	947	Q9P2K9	PTHD2_HUMAN	R	947	ENSP00000294484:G947R;ENSP00000374226:G947R	ENSP00000294484:G947R	G	+	1	0	PTCHD2	11512240	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	4.851000	0.62896	2.198000	0.70561	0.561000	0.74099	GGG		PASS	0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		8	41	8	41	---	---	---	---
MUL1	79594	broad.mit.edu	37	1	20827489	20827489	+	Silent	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:20827489T>A	ENST00000264198.3	-	4	889	c.753A>T	c.(751-753)acA>acT	p.T251T		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	251					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T251T(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGGTGGCACATGTGGCAAAGC	0.592																																						uc001bdi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)ACA>ACT		mitochondrial ubiquitin ligase activator of NFKB							55.0	60.0	58.0					1																	20827489		2203	4300	6503	SO:0001819	synonymous_variant	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827489T>A	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.753A>T	1.37:g.20827489T>A							p.T251T	NM_024544	NP_078820	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	910	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	251			Helical; (Potential).		B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	c.753A>T	CCDS208.1																																																																																				PASS	0.592	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		11	62	11	62	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23236992	23236992	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:23236992G>A	ENST00000400191.3	+	14	2638	c.2620G>A	c.(2620-2622)Ggc>Agc	p.G874S	EPHB2_ENST00000374627.1_Missense_Mutation_p.G869S|EPHB2_ENST00000374632.3_Missense_Mutation_p.G875S|EPHB2_ENST00000374630.3_Missense_Mutation_p.G874S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.G874S(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCAAGTTCGGCCAAATTGT	0.627																																						uc009vqj.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(2620-2622)GGC>AGC		ephrin receptor EphB2 isoform 1 precursor							109.0	81.0	90.0					1																	23236992		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23236992G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2620G>A	1.37:g.23236992G>A	ENSP00000383053:p.Gly874Ser					EPHB2_uc001bge.2_Missense_Mutation_p.G875S|EPHB2_uc001bgf.2_Missense_Mutation_p.G874S|EPHB2_uc010odu.1_Missense_Mutation_p.G816S	p.G874S	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	14	2765	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	874			Cytoplasmic (Potential).|Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.2620G>A		.	.	.	.	.	.	.	.	.	.	G	6.868	0.529507	0.13127	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	4.55	3.62	0.41486	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.110120	0.64402	N	0.000007	T	0.48786	0.1519	N	0.01081	-1.03	0.80722	D	1	B;B;B;B	0.13594	0.006;0.008;0.001;0.0	B;B;B;B	0.14578	0.007;0.011;0.007;0.002	T	0.53899	-0.8373	10	0.02654	T	1	.	11.6165	0.51092	0.0886:0.0:0.9114:0.0	.	816;874;892;875	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	S	816;874;874;875;869	ENSP00000363761:G874S;ENSP00000383053:G874S;ENSP00000363763:G875S;ENSP00000363758:G869S	ENSP00000363755:G816S	G	+	1	0	EPHB2	23109579	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.204000	0.72143	1.272000	0.44329	0.485000	0.47835	GGC		PASS	0.627	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		8	21	8	21	---	---	---	---
ASAP3	55616	broad.mit.edu	37	1	23763444	23763444	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:23763444T>A	ENST00000336689.3	-	15	1480	c.1436A>T	c.(1435-1437)cAg>cTg	p.Q479L	ASAP3_ENST00000495646.1_5'Flank|ASAP3_ENST00000437606.2_Missense_Mutation_p.Q470L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	479	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q479L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGTGAGTGACTGCATGCGCGA	0.657																																						uc001bha.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1435-1437)CAG>CTG		ArfGAP with SH3 domain, ankyrin repeat and PH							19.0	21.0	20.0					1																	23763444		2203	4296	6499	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23763444T>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1436A>T	1.37:g.23763444T>A	ENSP00000338769:p.Gln479Leu					ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.Q348L|ASAP3_uc010oea.1_Missense_Mutation_p.Q470L|ASAP3_uc001bhb.2_Missense_Mutation_p.Q2L	p.Q479L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			15	1560	-			479			Arf-GAP.		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.1436A>T	CCDS235.1	.	.	.	.	.	.	.	.	.	.	T	33	5.219361	0.95139	.	.	ENSG00000088280	ENST00000538685;ENST00000336689;ENST00000437606	T;T	0.44083	0.93;0.93	4.53	4.53	0.55603	.	0.145168	0.46442	D	0.000284	T	0.59542	0.2201	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.63386	-0.6649	10	0.87932	D	0	.	13.1144	0.59292	0.0:0.0:0.0:1.0	.	470;348;2;479	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	L	2;479;470	ENSP00000338769:Q479L;ENSP00000408826:Q470L	ENSP00000338769:Q479L	Q	-	2	0	ASAP3	23636031	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.794000	0.85869	2.030000	0.59900	0.386000	0.25728	CAG		PASS	0.657	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		3	6	3	6	---	---	---	---
HMGCL	3155	broad.mit.edu	37	1	24143192	24143192	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:24143192G>T	ENST00000374490.3	-	4	364	c.321C>A	c.(319-321)acC>acA	p.T107T	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Silent_p.T107T|HMGCL_ENST00000374483.4_Silent_p.T82T	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	107					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.T107T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TCAAATTTGGGGTCAGGACTG	0.517																																						uc001bib.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(319-321)ACC>ACA		3-hydroxy-3-methylglutaryl CoA lyase isoform 1							169.0	164.0	166.0					1																	24143192		2203	4300	6503	SO:0001819	synonymous_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24143192G>T	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.321C>A	1.37:g.24143192G>T						HMGCL_uc010oec.1_Silent_p.T107T|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.T82T|HMGCL_uc009vqs.1_Silent_p.T107T|HMGCL_uc001bid.1_Silent_p.T107T	p.T107T	NM_000191	NP_000182	P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	4	365	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	107					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Silent	SNP	ENST00000374490.3	37	c.321C>A	CCDS243.1																																																																																				PASS	0.517	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		7	145	7	145	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24418729	24418729	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:24418729G>T	ENST00000374434.3	-	11	1329	c.1167C>A	c.(1165-1167)ctC>ctA	p.L389L	MYOM3_ENST00000330966.7_Silent_p.L390L|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.L389L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	389	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.L389L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGTCAGGATGAGGCAGTCTC	0.657																																						uc001bin.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1165-1167)CTC>CTA		myomesin family, member 3							52.0	59.0	57.0					1																	24418729		1950	4137	6087	SO:0001819	synonymous_variant	127294							g.chr1:24418729G>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1167C>A	1.37:g.24418729G>T						MYOM3_uc001bim.3_Silent_p.L46L|MYOM3_uc001bio.2_Silent_p.L389L|MYOM3_uc001bip.1_Silent_p.L46L	p.L389L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	11	1330	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	389			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.1167C>A	CCDS41281.1																																																																																				PASS	0.657	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	15	4	15	---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32138087	32138087	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:32138087C>A	ENST00000373672.3	-	47	3551	c.3035G>T	c.(3034-3036)gGa>gTa	p.G1012V	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1012V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1012	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.G1012V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCAGGATCTCCCTCACTGTT	0.597																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)	8						c.(3034-3036)GGA>GTA		alpha 1 type XVI collagen precursor							77.0	85.0	82.0					1																	32138087		2064	4184	6248	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138087C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3035G>T	1.37:g.32138087C>A	ENSP00000362776:p.Gly1012Val					COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Missense_Mutation_p.G825V	p.G1012V	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	47	3400	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1012			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3035G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	9.268	1.044928	0.19748	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	D;D;D	0.97941	-4.62;-4.21;-2.84	4.42	3.5	0.40072	.	0.509194	0.19842	N	0.104836	D	0.98695	0.9562	H	0.96720	3.87	0.51233	D	0.999916	P;P	0.51537	0.946;0.933	P;P	0.56398	0.797;0.694	D	0.99023	1.0818	10	0.87932	D	0	.	8.229	0.31587	0.0:0.8912:0.0:0.1088	.	1012;1012	Q07092;Q07092-2	COGA1_HUMAN;.	V	1012;1012;217	ENSP00000362776:G1012V;ENSP00000271069:G1012V;ENSP00000411457:G217V	ENSP00000271069:G1012V	G	-	2	0	COL16A1	31910674	0.999000	0.42202	0.927000	0.36925	0.022000	0.10575	2.456000	0.44997	1.212000	0.43366	0.561000	0.74099	GGA		PASS	0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		22	19	22	19	---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34667845	34667845	+	Silent	SNP	C	C	A	rs114850350		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:34667845C>A	ENST00000488417.1	+	4	1551	c.1431C>A	c.(1429-1431)acC>acA	p.T477T	C1orf94_ENST00000373374.3_Silent_p.T287T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	477								p.T477T(1)|p.T287T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ATCACTCTACCTTCTTGCAGT	0.552																																						uc001bxs.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(859-861)ACC>ACA		hypothetical protein LOC84970 isoform b							170.0	147.0	155.0					1																	34667845		2203	4300	6503	SO:0001819	synonymous_variant	84970						protein binding	g.chr1:34667845C>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1431C>A	1.37:g.34667845C>A						C1orf94_uc001bxt.2_Silent_p.T477T	p.T287T	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			4	1260	+		Myeloproliferative disorder(586;0.0393)	287					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	c.861C>A	CCDS44108.1																																																																																				PASS	0.552	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		5	63	5	63	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636743	36636743	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:36636743G>T	ENST00000373151.2	+	2	434	c.218G>T	c.(217-219)gGg>gTg	p.G73V	MAP7D1_ENST00000373150.4_Missense_Mutation_p.G73V|MAP7D1_ENST00000316156.4_Missense_Mutation_p.G73V	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	73	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.G73V(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCCCCTCAGGGCAGGTCGGG	0.657																																						uc001bzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(217-219)GGG>GTG		MAP7 domain containing 1							49.0	54.0	52.0					1																	36636743		2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36636743G>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.218G>T	1.37:g.36636743G>T	ENSP00000362244:p.Gly73Val					MAP7D1_uc001caa.2_Missense_Mutation_p.G73V|MAP7D1_uc001cab.2_Missense_Mutation_p.G73V|MAP7D1_uc001cac.2_5'Flank	p.G73V	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			2	434	+		Myeloproliferative disorder(586;0.0393)	73			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.218G>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416386	0.25552	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	4.35	-1.06	0.10002	.	0.387393	0.19091	N	0.122958	T	0.03178	0.0093	N	0.22421	0.69	0.09310	N	0.999999	B;B;P	0.44734	0.275;0.13;0.842	B;B;B	0.37601	0.071;0.103;0.254	T	0.45862	-0.9232	10	0.31617	T	0.26	-3.361	5.1986	0.15252	0.5461:0.1643:0.2896:0.0	.	73;73;73	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	V	34;73;73;73;34	ENSP00000390091:G34V;ENSP00000320228:G73V;ENSP00000362243:G73V;ENSP00000362244:G73V;ENSP00000435126:G34V	ENSP00000320228:G73V	G	+	2	0	MAP7D1	36409330	0.001000	0.12720	0.002000	0.10522	0.864000	0.49448	0.063000	0.14410	-0.065000	0.13021	0.462000	0.41574	GGG		PASS	0.657	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		6	33	6	33	---	---	---	---
MTF1	4520	broad.mit.edu	37	1	38323190	38323190	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:38323190G>T	ENST00000373036.4	-	2	281	c.141C>A	c.(139-141)acC>acA	p.T47T	MTF1_ENST00000468190.1_5'UTR	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	47					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T47T(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAAGAACAGTGGTCCTATCAT	0.498																																						uc001cce.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(139-141)ACC>ACA		metal-regulatory transcription factor 1							129.0	114.0	119.0					1																	38323190		2203	4300	6503	SO:0001819	synonymous_variant	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38323190G>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.141C>A	1.37:g.38323190G>T						MTF1_uc009vvj.1_5'UTR	p.T47T	NM_005955	NP_005946	Q14872	MTF1_HUMAN			2	282	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	47					B2RAK6|Q96CB1	Silent	SNP	ENST00000373036.4	37	c.141C>A	CCDS30676.1																																																																																				PASS	0.498	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		5	49	5	49	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39844973	39844973	+	Missense_Mutation	SNP	C	C	A	rs377263950		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:39844973C>A	ENST00000372915.3	+	53	13477	c.13390C>A	c.(13390-13392)Ctc>Atc	p.L4464I	MACF1_ENST00000361689.2_Missense_Mutation_p.L2397I|MACF1_ENST00000564288.1_Missense_Mutation_p.L4459I|MACF1_ENST00000539005.1_Missense_Mutation_p.L2376I|MACF1_ENST00000289893.4_Missense_Mutation_p.L2899I|MACF1_ENST00000545844.1_Missense_Mutation_p.L2397I|MACF1_ENST00000567887.1_Missense_Mutation_p.L4496I|MACF1_ENST00000317713.7_Missense_Mutation_p.L2397I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4464					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.L2397I(1)|p.L2899I(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)			TCAGGCTATCCTCAACAGAAT	0.478																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(8695-8697)CTC>ATC		microfilament and actin filament cross-linker							193.0	192.0	192.0					1																	39844973		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.chr1:39844973C>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.13390C>A	1.37:g.39844973C>A	ENSP00000362006:p.Leu4464Ile					MACF1_uc010ois.1_Missense_Mutation_p.L2397I|MACF1_uc001cda.1_Missense_Mutation_p.L2284I|MACF1_uc001cdc.1_Missense_Mutation_p.L1463I	p.L2899I	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)		18	8826	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4464					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8695C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.04|13.04	2.119223|2.119223	0.37436|0.37436	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	6.04|6.04	2.1|2.1	0.27182|0.27182	.|.	0.359227|.	0.23930|.	N|.	0.043147|.	T|T	0.58963|0.58963	0.2159|0.2159	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;B;B|.	0.51791|.	0.948;0.053;0.369|.	P;B;B|.	0.57244|.	0.816;0.109;0.382|.	T|T	0.51419|0.51419	-0.8708|-0.8708	10|5	0.26408|.	T|.	0.33|.	.|.	10.3244|10.3244	0.43785|0.43785	0.0:0.6809:0.0:0.3191|0.0:0.6809:0.0:0.3191	.|.	4464;2397;2341|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	I|H	2397;4464;2397;2397;2376;2899|1509	ENSP00000439537:L2397I;ENSP00000362006:L4464I;ENSP00000354573:L2397I;ENSP00000313438:L2397I;ENSP00000444364:L2376I;ENSP00000289893:L2899I|.	ENSP00000289893:L2899I|.	L|P	+|+	1|2	0|0	MACF1|MACF1	39617560|39617560	1.000000|1.000000	0.71417|0.71417	0.378000|0.378000	0.26068|0.26068	0.376000|0.376000	0.30014|0.30014	1.048000|1.048000	0.30379|0.30379	0.147000|0.147000	0.19030|0.19030	-0.145000|-0.145000	0.13849|0.13849	CTC|CCT		PASS	0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	248	9	248	---	---	---	---
AKR1A1	10327	broad.mit.edu	37	1	46034829	46034829	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:46034829C>A	ENST00000372070.3	+	9	1587	c.840C>A	c.(838-840)acC>acA	p.T280T	AKR1A1_ENST00000473038.1_3'UTR|AKR1A1_ENST00000351829.4_Silent_p.T280T	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	280					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)	p.T280T(1)		lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TTGACTTCACCTTTAGCCCAG	0.473																																						uc001cod.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(838-840)ACC>ACA		aldo-keto reductase family 1, member A1							120.0	117.0	118.0					1																	46034829		2203	4300	6503	SO:0001819	synonymous_variant	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46034829C>A	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.840C>A	1.37:g.46034829C>A						AKR1A1_uc001coe.2_Silent_p.T280T|AKR1A1_uc001cof.2_Silent_p.T86T|AKR1A1_uc001cog.2_RNA	p.T280T	NM_006066	NP_006057	P14550	AK1A1_HUMAN			9	1304	+	Acute lymphoblastic leukemia(166;0.155)		280					A8KAL8|D3DQ04|Q6IAZ4	Silent	SNP	ENST00000372070.3	37	c.840C>A	CCDS523.1																																																																																				PASS	0.473	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		7	72	7	72	---	---	---	---
FAF1	11124	broad.mit.edu	37	1	50957443	50957443	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:50957443T>C	ENST00000396153.2	-	16	1976	c.1525A>G	c.(1525-1527)Aga>Gga	p.R509G	FAF1_ENST00000371778.4_Missense_Mutation_p.R509G|FAF1_ENST00000545823.1_Missense_Mutation_p.R267G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	509					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.R509G(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTTGCTCTCTCTTCACATTT	0.338																																						uc009vyx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1525-1527)AGA>GGA		FAS-associated factor 1							147.0	137.0	141.0					1																	50957443		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50957443T>C	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1525A>G	1.37:g.50957443T>C	ENSP00000379457:p.Arg509Gly					FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.R509G|FAF1_uc010onc.1_Missense_Mutation_p.R267G	p.R509G	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	17	1588	-			509					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.1525A>G	CCDS554.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396795	0.62177	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.79	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	L	0.56769	1.78	0.52099	D	0.999945	P;P	0.52842	0.907;0.956	B;P	0.50082	0.258;0.63	T	0.61436	-0.7063	9	0.42905	T	0.14	-25.447	11.4038	0.49885	0.0:0.0:0.2755:0.7245	.	267;509	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	G	509;509;267;349;357	.	ENSP00000360843:R509G	R	-	1	2	FAF1	50730031	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.947000	0.49058	2.215000	0.71742	0.529000	0.55759	AGA		PASS	0.338	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		15	68	15	68	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52821867	52821867	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:52821867T>G	ENST00000371586.2	-	18	2201	c.2063A>C	c.(2062-2064)cAg>cCg	p.Q688P	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q682P|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q63P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	688	C2.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Q688P(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CCTCACAGTCTGGAATGTCTT	0.612																																						uc001ctq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2062-2064)CAG>CCG		coiled-coil and C2 domain containing 1B							102.0	101.0	102.0					1																	52821867		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52821867T>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2063A>C	1.37:g.52821867T>G	ENSP00000360642:p.Gln688Pro					CC2D1B_uc001ctr.2_Missense_Mutation_p.Q228P|CC2D1B_uc001cts.2_Missense_Mutation_p.Q373P	p.Q688P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			18	2201	-			688			C2.		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.2063A>C	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762750	0.49574	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	T;T;T	0.53423	0.62;0.62;0.62	5.09	5.09	0.68999	C2 calcium/lipid-binding domain, CaLB (1);	0.251747	0.40469	N	0.001098	T	0.41026	0.1141	N	0.04508	-0.205	0.38365	D	0.944705	D;D;D	0.59357	0.974;0.985;0.974	P;P;P	0.58520	0.696;0.84;0.696	T	0.50923	-0.8770	10	0.33940	T	0.23	-18.7663	13.9913	0.64369	0.0:0.0:0.0:1.0	.	468;682;688	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	P	688;682;596;63	ENSP00000360642:Q688P;ENSP00000284376:Q682P;ENSP00000406300:Q63P	ENSP00000284376:Q682P	Q	-	2	0	CC2D1B	52594455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.825000	0.48096	2.146000	0.66826	0.459000	0.35465	CAG		PASS	0.612	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		16	23	16	23	---	---	---	---
C8A	731	broad.mit.edu	37	1	57333307	57333307	+	Missense_Mutation	SNP	G	G	A	rs201034819		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:57333307G>A	ENST00000361249.3	+	2	199	c.103G>A	c.(103-105)Gca>Aca	p.A35T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	35					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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.A35T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCTACACCCGCAGCAGTTAC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		17292	0.0		0.001	False		,,,				2504	0.0					uc001cyo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(103-105)GCA>ACA		complement component 8, alpha polypeptide							74.0	67.0	69.0					1																	57333307		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57333307G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.103G>A	1.37:g.57333307G>A	ENSP00000354458:p.Ala35Thr						p.A35T	NM_000562	NP_000553	P07357	CO8A_HUMAN			2	235	+			35					A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.103G>A	CCDS606.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.848	0.340618	0.11069	.	.	ENSG00000157131	ENST00000361249	T	0.76186	-1.0	5.09	-8.4	0.00965	.	1.130590	0.06250	N	0.691972	T	0.46639	0.1403	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29852	-0.9998	10	0.12430	T	0.62	1.9357	3.8445	0.08928	0.1647:0.1197:0.4805:0.2351	.	35	P07357	CO8A_HUMAN	T	35	ENSP00000354458:A35T	ENSP00000354458:A35T	A	+	1	0	C8A	57105895	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.907000	0.04067	-0.910000	0.03847	-1.364000	0.01208	GCA		PASS	0.468	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		6	28	6	28	---	---	---	---
C8A	731	broad.mit.edu	37	1	57378134	57378134	+	Missense_Mutation	SNP	G	G	T	rs373473282		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:57378134G>T	ENST00000361249.3	+	10	1535	c.1439G>T	c.(1438-1440)cGc>cTc	p.R480L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	480	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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.R480L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGCCAAGCGCCAGAACCTG	0.622																																						uc001cyo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1438-1440)CGC>CTC		complement component 8, alpha polypeptide							59.0	62.0	61.0					1																	57378134		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378134G>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1439G>T	1.37:g.57378134G>T	ENSP00000354458:p.Arg480Leu						p.R480L	NM_000562	NP_000553	P07357	CO8A_HUMAN			10	1571	+			480			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1439G>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595302	0.28445	.	.	ENSG00000157131	ENST00000361249	D	0.85258	-1.96	5.73	3.86	0.44501	Membrane attack complex component/perforin (MACPF) domain (3);	0.156847	0.53938	D	0.000057	D	0.82398	0.5028	M	0.73598	2.24	0.22226	N	0.999271	B	0.22276	0.067	B	0.26416	0.069	T	0.71866	-0.4463	10	0.39692	T	0.17	-1.8718	6.362	0.21433	0.0707:0.1315:0.6612:0.1366	.	480	P07357	CO8A_HUMAN	L	480	ENSP00000354458:R480L	ENSP00000354458:R480L	R	+	2	0	C8A	57150722	0.003000	0.15002	0.957000	0.39632	0.921000	0.55340	0.941000	0.29005	0.776000	0.33473	0.655000	0.94253	CGC		PASS	0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		15	25	15	25	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60325921	60325921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:60325921G>T	ENST00000371208.3	+	15	1710	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E443*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	485	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.E485*(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGAAGGCTCTGAGAATGAACG	0.373																																						uc009wad.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1453-1455)GAG>TAG		hook homolog 1							128.0	133.0	131.0					1																	60325921		2203	4300	6503	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60325921G>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1453G>T	1.37:g.60325921G>T	ENSP00000360252:p.Glu485*					HOOK1_uc001czo.2_Nonsense_Mutation_p.E485*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.E443*	p.E485*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			16	1555	+	all_cancers(7;0.000129)		485			Sufficient for interaction with microtubules.|Potential.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.1453G>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	42	9.344033	0.99143	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.7375	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	X	485;443	.	ENSP00000360252:E485X	E	+	1	0	HOOK1	60098509	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	8.484000	0.90445	2.733000	0.93635	0.655000	0.94253	GAG		PASS	0.373	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		6	159	6	159	---	---	---	---
NFIA	4774	broad.mit.edu	37	1	61554058	61554058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:61554058G>T	ENST00000403491.3	+	2	749	c.265G>T	c.(265-267)Gag>Tag	p.E89*	NFIA_ENST00000485903.2_Nonsense_Mutation_p.E89*|NFIA_ENST00000407417.3_Nonsense_Mutation_p.E81*|NFIA_ENST00000371191.1_Nonsense_Mutation_p.E112*|NFIA_ENST00000371189.4_Nonsense_Mutation_p.E134*|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371184.2_Nonsense_Mutation_p.E89*|NFIA_ENST00000371187.3_Nonsense_Mutation_p.E89*|NFIA_ENST00000371185.2_Nonsense_Mutation_p.E89*	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	89					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E134*(1)|p.E89*(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CGAATATCGAGAGGATTTTGT	0.463																																						uc001czw.2																			2	Substitution - Nonsense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(265-267)GAG>TAG		nuclear factor I/A isoform 1							99.0	102.0	101.0					1																	61554058		2203	4300	6503	SO:0001587	stop_gained	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61554058G>T	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.265G>T	1.37:g.61554058G>T	ENSP00000384523:p.Glu89*					NFIA_uc001czy.2_Nonsense_Mutation_p.E81*|NFIA_uc010oos.1_Nonsense_Mutation_p.E134*|NFIA_uc001czv.2_Nonsense_Mutation_p.E89*	p.E89*	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			2	749	+			89			CTF/NF-I.		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Nonsense_Mutation	SNP	ENST00000403491.3	37	c.265G>T	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	42	9.727835	0.99249	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.0181	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	112;81;134;89;89;89;89;89	.	ENSP00000360226:E89X	E	+	1	0	NFIA	61326646	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GAG		PASS	0.463	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		7	124	7	124	---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62675520	62675520	+	Silent	SNP	A	A	T	rs536524142		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:62675520A>T	ENST00000498273.1	+	4	1369	c.1074A>T	c.(1072-1074)ctA>ctT	p.L358L	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	358								p.L358L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGAGCTTCCTATTTCTTAAAG	0.383																																						uc001dae.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1072-1074)CTA>CTT		LINE-1 type transposase domain containing 1							67.0	77.0	73.0					1																	62675520		2201	4298	6499	SO:0001819	synonymous_variant	54596							g.chr1:62675520A>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1074A>T	1.37:g.62675520A>T							p.L358L	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			4	1376	+			358					Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	c.1074A>T	CCDS619.1																																																																																				PASS	0.383	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		24	116	24	116	---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66379032	66379032	+	Missense_Mutation	SNP	C	C	G	rs12038033		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:66379032C>G	ENST00000329654.4	+	2	222	c.35C>G	c.(34-36)gCt>gGt	p.A12G	PDE4B_ENST00000371049.3_Missense_Mutation_p.A12G	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	12					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A12G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	ACGGTGATGGCTGATGATGTA	0.398																																						uc001dcn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(34-36)GCT>GGT		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						146.0	133.0	138.0					1																	66379032		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66379032C>G	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.35C>G	1.37:g.66379032C>G	ENSP00000332116:p.Ala12Gly					PDE4B_uc009war.2_5'UTR|PDE4B_uc001dco.2_Missense_Mutation_p.A12G	p.A12G	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			2	226	+			12					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.35C>G	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	5.314	0.243220	0.10077	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.70986	-0.53;-0.53;-0.53	4.52	4.52	0.55395	.	0.566442	0.15552	N	0.256349	T	0.34308	0.0893	N	0.08118	0	0.22693	N	0.998842	P	0.41929	0.765	B	0.36464	0.225	T	0.29549	-1.0008	10	0.30854	T	0.27	.	16.3203	0.82949	0.0:1.0:0.0:0.0	.	12	Q07343	PDE4B_HUMAN	G	12	ENSP00000332116:A12G;ENSP00000342637:A12G;ENSP00000360088:A12G	ENSP00000332116:A12G	A	+	2	0	PDE4B	66151620	0.994000	0.37717	0.776000	0.31678	0.548000	0.35241	3.819000	0.55686	2.514000	0.84764	0.557000	0.71058	GCT		PASS	0.398	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		16	33	16	33	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037158	75037158	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:75037158C>T	ENST00000326665.5	-	14	4454	c.4236G>A	c.(4234-4236)ggG>ggA	p.G1412G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1412	Glu-rich.							p.G1412G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCACTTCCTCCCCACTCCGTG	0.557																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4234-4236)GGG>GGA		hypothetical protein LOC127254							99.0	98.0	99.0					1																	75037158		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037158C>T																												ENST00000326665.5:c.4236G>A	1.37:g.75037158C>T							p.G1412G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4455	-			1412			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4236G>A	CCDS30755.1																																																																																				PASS	0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			17	55	17	55	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75065401	75065401	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:75065401A>C	ENST00000326665.5	-	11	1922	c.1704T>G	c.(1702-1704)agT>agG	p.S568R	C1orf173_ENST00000420661.2_Missense_Mutation_p.S371R|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		568	Glu-rich.							p.S568R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCAGTTCACTCTCAGAGC	0.388																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1702-1704)AGT>AGG		hypothetical protein LOC127254							251.0	224.0	233.0					1																	75065401		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75065401A>C																												ENST00000326665.5:c.1704T>G	1.37:g.75065401A>C	ENSP00000322609:p.Ser568Arg					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.S362R	p.S568R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	1923	-			568			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1704T>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	4.811	0.150733	0.09185	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.22743	2.37;1.94	6.05	1.85	0.25348	.	.	.	.	.	T	0.06962	0.0177	L	0.52573	1.65	0.31604	N	0.652386	B;P	0.38078	0.169;0.617	B;B	0.36289	0.091;0.221	T	0.24333	-1.0163	9	0.36615	T	0.2	-2.583	6.3653	0.21451	0.7101:0.1268:0.1631:0.0	.	371;568	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	R	568;371	ENSP00000322609:S568R;ENSP00000398581:S371R	ENSP00000322609:S568R	S	-	3	2	C1orf173	74837989	0.999000	0.42202	0.365000	0.25901	0.003000	0.03518	1.618000	0.36954	0.051000	0.15978	-0.321000	0.08615	AGT		PASS	0.388	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			26	36	26	36	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75107029	75107029	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:75107029T>A	ENST00000326665.5	-	5	648	c.430A>T	c.(430-432)Agt>Tgt	p.S144C		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		144								p.S144C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTAACGGACTGGAATGTCCT	0.428																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(430-432)AGT>TGT		hypothetical protein LOC127254							155.0	136.0	143.0					1																	75107029		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75107029T>A																												ENST00000326665.5:c.430A>T	1.37:g.75107029T>A	ENSP00000322609:p.Ser144Cys						p.S144C	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			5	649	-			144					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.430A>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	9.380	1.072711	0.20147	.	.	ENSG00000178965	ENST00000326665	T	0.14391	2.51	5.41	0.566	0.17317	.	.	.	.	.	T	0.02807	0.0084	L	0.27053	0.805	0.80722	D	1	B	0.25609	0.13	B	0.25884	0.064	T	0.34800	-0.9814	9	0.48119	T	0.1	-7.3283	3.4108	0.07357	0.1621:0.2631:0.0:0.5748	.	144	Q5RHP9	CA173_HUMAN	C	144	ENSP00000322609:S144C	ENSP00000322609:S144C	S	-	1	0	C1orf173	74879617	0.456000	0.25744	0.990000	0.47175	0.115000	0.19883	0.583000	0.23849	0.123000	0.18342	-0.388000	0.06559	AGT		PASS	0.428	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	36	6	36	---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78097971	78097971	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:78097971C>A	ENST00000370801.3	-	5	1544	c.1069G>T	c.(1069-1071)Gtt>Ttt	p.V357F	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	357					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V357F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAGTCTAGAACAGGAGATGGT	0.468																																						uc001dhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(1069-1071)GTT>TTT		zinc finger, ZZ-type containing 3							168.0	154.0	159.0					1																	78097971		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097971C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1069G>T	1.37:g.78097971C>A	ENSP00000359837:p.Val357Phe					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.V357F|ZZZ3_uc001dhp.2_Missense_Mutation_p.V357F	p.V357F	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	1545	-			357					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1069G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	5.592	0.294073	0.10567	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	3.5	0.40072	.	0.628911	0.16929	N	0.193774	T	0.28400	0.0702	N	0.25647	0.755	0.80722	D	1	B;B;B	0.28324	0.207;0.132;0.207	B;B;B	0.36289	0.221;0.051;0.109	T	0.06807	-1.0806	8	.	.	.	.	10.5752	0.45223	0.0:0.793:0.134:0.073	.	357;357;357	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	F	357	.	.	V	-	1	0	ZZZ3	77870559	0.018000	0.18449	0.997000	0.53966	0.231000	0.25187	0.197000	0.17197	0.753000	0.32945	0.650000	0.86243	GTT		PASS	0.468	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		17	51	17	51	---	---	---	---
WDR63	126820	broad.mit.edu	37	1	85559204	85559204	+	Silent	SNP	C	C	A	rs373488223		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:85559204C>A	ENST00000294664.6	+	9	1101	c.921C>A	c.(919-921)ctC>ctA	p.L307L	WDR63_ENST00000370596.1_Silent_p.L268L|WDR63_ENST00000326813.8_Silent_p.L268L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	307								p.L307L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGAAATACCTCGCAGAAGAAG	0.388																																						uc001dkt.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(919-921)CTC>CTA		WD repeat domain 63							145.0	138.0	141.0					1																	85559204		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85559204C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.921C>A	1.37:g.85559204C>A						WDR63_uc009wcl.2_Silent_p.L268L	p.L307L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1112	+			307					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.921C>A	CCDS702.1																																																																																				PASS	0.388	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		7	158	7	158	---	---	---	---
CCBL2	56267	broad.mit.edu	37	1	89414865	89414865	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:89414865T>A	ENST00000260508.4	-	11	1387	c.1050A>T	c.(1048-1050)agA>agT	p.R350S	CCBL2_ENST00000370491.3_Missense_Mutation_p.R316S|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	350					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.R350S(1)|p.R316S(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CCATCCGATCTCTTTTTACTT	0.408																																						uc001dmp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1048-1050)AGA>AGT		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						109.0	100.0	103.0					1																	89414865		2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89414865T>A	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1050A>T	1.37:g.89414865T>A	ENSP00000260508:p.Arg350Ser					CCBL2_uc001dmq.2_Missense_Mutation_p.R316S|CCBL2_uc001dmr.2_Missense_Mutation_p.R186S	p.R350S	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	11	1427	-		Lung NSC(277;0.123)	350					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.1050A>T	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927224	0.73327	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	T;T	0.54479	0.57;0.57	5.47	2.98	0.34508	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73183	-0.4063	10	0.87932	D	0	-24.7344	3.2264	0.06734	0.3474:0.1315:0.0:0.5211	.	350	Q6YP21	KAT3_HUMAN	S	316;350	ENSP00000359522:R316S;ENSP00000260508:R350S	ENSP00000260508:R350S	R	-	3	2	CCBL2	89187453	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.032000	0.30178	2.084000	0.62774	0.460000	0.39030	AGA		PASS	0.408	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		13	24	13	24	---	---	---	---
GBP1	2633	broad.mit.edu	37	1	89523674	89523674	+	Splice_Site	SNP	C	C	T	rs139189718	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:89523674C>T	ENST00000370473.4	-	6	1094		c.e6+1		GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.?(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGGGGACTTACGAGGCCCGTT	0.423													.|||	4	0.000798722	0.003	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.0					uc001dmx.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e6+1		guanylate binding protein 1,		C		12,4394	19.1+/-41.9	0,12,2191	92.0	95.0	94.0			4.5	1.0	1	dbSNP_134	94	0,8600		0,0,4300	yes	splice-5	GBP1	NM_002053.2		0,12,6491	TT,TC,CC		0.0,0.2724,0.0923			89523674	12,12994	2203	4300	6503	SO:0001630	splice_region_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523674C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.874+1G>A	1.37:g.89523674C>T							p.R292_splice	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	1094	-		Lung NSC(277;0.123)						D3DT26|Q5T8M1	Splice_Site	SNP	ENST00000370473.4	37	c.874_splice	CCDS718.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.24	2.177844	0.38413	0.002724	0.0	ENSG00000117228	ENST00000370473;ENST00000542693	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6463	0.56735	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBP1	89296262	0.997000	0.39634	0.997000	0.53966	0.424000	0.31475	3.976000	0.56867	2.029000	0.59856	0.313000	0.20887	.		PASS	0.423	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	Intron	35	39	35	39	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93070917	93070917	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:93070917T>C	ENST00000370331.1	-	16	1978	c.1969A>G	c.(1969-1971)Agc>Ggc	p.S657G	EVI5_ENST00000540033.1_Missense_Mutation_p.S657G|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.S668G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	657	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.S657G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCAGCTATGCTATCTGCTTCC	0.383																																						uc001dox.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1969-1971)AGC>GGC		ecotropic viral integration site 5							139.0	137.0	138.0					1																	93070917		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93070917T>C	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1969A>G	1.37:g.93070917T>C	ENSP00000359356:p.Ser657Gly					EVI5_uc010otf.1_Missense_Mutation_p.S668G|EVI5_uc001doy.1_RNA	p.S657G	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	16	1979	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	657			Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.1969A>G	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527200	0.44969	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.35421	1.31;1.31;1.31	5.36	3.0	0.34707	.	0.048418	0.85682	D	0.000000	T	0.19087	0.0458	M	0.61703	1.905	0.30298	N	0.789741	B;B	0.22003	0.063;0.038	B;B	0.35182	0.197;0.097	T	0.16424	-1.0403	10	0.31617	T	0.26	-6.0381	6.9836	0.24715	0.0:0.1379:0.1238:0.7383	.	668;657	F5H4R0;O60447	.;EVI5_HUMAN	G	657;657;668	ENSP00000359356:S657G;ENSP00000440826:S657G;ENSP00000445019:S668G	ENSP00000359356:S657G	S	-	1	0	EVI5	92843505	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.640000	0.46579	0.861000	0.35504	0.533000	0.62120	AGC		PASS	0.383	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		27	55	27	55	---	---	---	---
MTF2	22823	broad.mit.edu	37	1	93602335	93602335	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:93602335G>T	ENST00000370298.4	+	15	1822	c.1533G>T	c.(1531-1533)caG>caT	p.Q511H	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Missense_Mutation_p.Q454H|MTF2_ENST00000540243.1_Missense_Mutation_p.Q409H|MTF2_ENST00000545708.1_Missense_Mutation_p.Q409H	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	511					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.Q511H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TCCAGACTCAGAACTCAGAAA	0.418																																						uc009wdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1531-1533)CAG>CAT		metal response element binding transcription							92.0	88.0	90.0					1																	93602335		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93602335G>T	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1533G>T	1.37:g.93602335G>T	ENSP00000359321:p.Gln511His					MTF2_uc010oth.1_Missense_Mutation_p.Q409H|MTF2_uc009wdk.2_Missense_Mutation_p.Q454H|MTF2_uc001dpi.3_Missense_Mutation_p.Q238H|MTF2_uc010oti.1_Missense_Mutation_p.Q409H|MTF2_uc001dpj.3_Missense_Mutation_p.Q409H|MTF2_uc001dpl.3_Missense_Mutation_p.Q409H|MTF2_uc001dpm.3_Missense_Mutation_p.Q180H	p.Q511H	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	15	1825	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	511					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.1533G>T	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696613	0.30142	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.31769	1.48;1.48;1.9;1.88	5.7	2.84	0.33178	.	0.163252	0.56097	N	0.000033	T	0.05135	0.0137	N	0.08118	0	0.35162	D	0.770715	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.002	T	0.18085	-1.0348	10	0.41790	T	0.15	-4.3032	5.5405	0.17036	0.3097:0.1351:0.5552:0.0	.	454;511;409	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	H	409;409;511;454	ENSP00000444962:Q409H;ENSP00000443295:Q409H;ENSP00000359321:Q511H;ENSP00000359326:Q454H	ENSP00000359321:Q511H	Q	+	3	2	MTF2	93374923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.713000	0.37951	0.356000	0.24157	0.655000	0.94253	CAG		PASS	0.418	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		16	72	16	72	---	---	---	---
DPH5	51611	broad.mit.edu	37	1	101460686	101460686	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:101460686C>A	ENST00000370109.3	-	6	622	c.510G>T	c.(508-510)caG>caT	p.Q170H	DPH5_ENST00000488176.1_Missense_Mutation_p.Q170H|DPH5_ENST00000427040.2_5'UTR|RP11-421L21.2_ENST00000414686.1_RNA|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.Q170H	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	170					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)	p.Q170H(1)		endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TTTCCAAAGACTGCTCCTTTA	0.294																																						uc001dts.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)CAG>CAT		diphthine synthase isoform a							66.0	64.0	65.0					1																	101460686		1794	4069	5863	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101460686C>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.510G>T	1.37:g.101460686C>A	ENSP00000359127:p.Gln170His					DPH5_uc001dtr.2_Missense_Mutation_p.Q170H|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Missense_Mutation_p.Q170H|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.Q170H|DPH5_uc001dty.2_Missense_Mutation_p.Q49H|DPH5_uc001dtz.2_RNA	p.Q170H	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	6	657	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	170					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.510G>T	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208112	0.58343	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	5.65	3.79	0.43588	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (2);	0.051580	0.85682	D	0.000000	T	0.55577	0.1929	M	0.89715	3.055	0.80722	D	1	P;B;B	0.36048	0.534;0.331;0.331	B;B;B	0.38921	0.132;0.285;0.209	T	0.60939	-0.7163	9	0.54805	T	0.06	-15.5129	8.2459	0.31689	0.0:0.6965:0.0:0.3035	.	182;170;170	Q9H2P9-5;Q9H2P9;A8JZY6	.;DPH5_HUMAN;.	H	170;169;119;170;170	.	ENSP00000339630:Q170H	Q	-	3	2	DPH5	101233274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.876000	0.28092	0.754000	0.32968	0.591000	0.81541	CAG		PASS	0.294	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		7	16	7	16	---	---	---	---
PRMT6	55170	broad.mit.edu	37	1	107600083	107600083	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:107600083G>A	ENST00000370078.1	+	1	783	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	PRMT6_ENST00000361318.5_Missense_Mutation_p.R190Q			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	249	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.R190Q(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GTGCTGGCCCGGCCGCAGCGC	0.687																																						uc010ous.1																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)CGG>CAG		protein arginine methyltransferase 6							30.0	35.0	33.0					1																	107600083		2007	4167	6174	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600083G>A	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.746G>A	1.37:g.107600083G>A	ENSP00000359095:p.Arg249Gln						p.R249Q	NM_018137	NP_060607	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	817	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	249					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.746G>A	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788962	0.49997	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.21361	2.01;2.01	5.51	3.63	0.41609	.	0.285462	0.33854	N	0.004481	T	0.06142	0.0159	L	0.53249	1.67	0.31477	N	0.667653	B	0.27559	0.181	B	0.24848	0.056	T	0.25117	-1.0141	10	0.18710	T	0.47	-25.9336	4.6448	0.12566	0.1769:0.0:0.6483:0.1748	.	249	Q96LA8	ANM6_HUMAN	Q	190;249	ENSP00000355145:R190Q;ENSP00000359095:R249Q	ENSP00000355145:R190Q	R	+	2	0	PRMT6	107401606	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.267000	0.51577	1.320000	0.45209	0.442000	0.29010	CGG		PASS	0.687	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		6	13	6	13	---	---	---	---
SLC25A24	29957	broad.mit.edu	37	1	108700228	108700228	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:108700228C>A	ENST00000565488.1	-	5	744	c.525G>T	c.(523-525)ggG>ggT	p.G175G	SLC25A24_ENST00000370041.4_Silent_p.G156G	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	175					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.G156G(1)|p.G175G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTAAGCTATCCCCTATGTCAA	0.403																																						uc001dvn.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(523-525)GGG>GGT		solute carrier family 25 member 24 isoform 1							104.0	103.0	103.0					1																	108700228		2203	4300	6503	SO:0001819	synonymous_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108700228C>A	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.525G>T	1.37:g.108700228C>A						SLC25A24_uc001dvm.2_Silent_p.G156G	p.G175G	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	5	739	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	175			Mitochondrial intermembrane (Potential).		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Silent	SNP	ENST00000565488.1	37	c.525G>T	CCDS41361.1																																																																																				PASS	0.403	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		7	109	7	109	---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:112999276G>A	ENST00000271277.6	+	6	1387	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.E388*(2)|p.E388K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCAGTGGAGAATGGTGG	0.552																																						uc001ebx.2																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)	central_nervous_system(2)|ovary(1)	3						c.(1162-1164)GAG>AAG		CTTNBP2 N-terminal like							102.0	110.0	108.0					1																	112999276		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999276G>A	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1162G>A	1.37:g.112999276G>A	ENSP00000271277:p.Glu388Lys					CTTNBP2NL_uc001ebz.2_5'Flank	p.E388K	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1390	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	388					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1162G>A	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521668	0.44866	.	.	ENSG00000143079	ENST00000271277	T	0.29917	1.55	5.69	4.77	0.60923	.	0.153883	0.64402	D	0.000020	T	0.07954	0.0199	N	0.08118	0	0.54753	D	0.999984	B	0.12630	0.006	B	0.06405	0.002	T	0.11108	-1.0601	10	0.23891	T	0.37	-28.1516	14.7337	0.69402	0.0716:0.0:0.9284:0.0	.	388	Q9P2B4	CT2NL_HUMAN	K	388	ENSP00000271277:E388K	ENSP00000271277:E388K	E	+	1	0	CTTNBP2NL	112800799	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.721000	0.61951	2.678000	0.91216	0.563000	0.77884	GAG		PASS	0.552	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		22	72	22	72	---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114381218	114381218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:114381218C>A	ENST00000359785.5	-	12	1075	c.940G>T	c.(940-942)Gag>Tag	p.E314*	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.E187*|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.E259*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.E314*|PTPN22_ENST00000538253.1_Nonsense_Mutation_p.E70*	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	314					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.E314*(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATTTTTCTCAGGAATACAA	0.328																																						uc001eds.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(940-942)GAG>TAG		protein tyrosine phosphatase, non-receptor type							90.0	95.0	93.0					1																	114381218		2203	4300	6503	SO:0001587	stop_gained	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114381218C>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.940G>T	1.37:g.114381218C>A	ENSP00000352833:p.Glu314*					PTPN22_uc009wgq.2_Nonsense_Mutation_p.E259*|PTPN22_uc010owo.1_Nonsense_Mutation_p.E70*|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Nonsense_Mutation_p.E314*|PTPN22_uc009wgs.2_Nonsense_Mutation_p.E187*|PTPN22_uc001edu.2_Nonsense_Mutation_p.E314*	p.E314*	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1070	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	314					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Nonsense_Mutation	SNP	ENST00000359785.5	37	c.940G>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979980	0.34942	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	5.54	-0.231	0.13086	.	0.549173	0.17222	N	0.182288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	7.7971	0.29154	0.0:0.3997:0.4403:0.16	.	.	.	.	X	314;259;70;314;187;314	.	ENSP00000346621:E314X	E	-	1	0	PTPN22	114182741	0.729000	0.28090	0.971000	0.41717	0.168000	0.22595	-0.390000	0.07332	0.224000	0.20940	0.655000	0.94253	GAG		PASS	0.328	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		5	52	5	52	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114949569	114949569	+	Silent	SNP	A	A	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:114949569A>C	ENST00000358465.2	-	14	2495	c.2412T>G	c.(2410-2412)gcT>gcG	p.A804A	TRIM33_ENST00000369543.2_Silent_p.A804A|TRIM33_ENST00000450349.2_Silent_p.A436A|TRIM33_ENST00000476908.1_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	804					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A804A(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCATGCAAGCACTCCTCC	0.433			T	RET	papillary thyroid																																	uc001eew.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		1	Substitution - coding silent(1)		lung(1)	lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11						c.(2410-2412)GCT>GCG		tripartite motif-containing 33 protein isoform							166.0	154.0	158.0					1																	114949569		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114949569A>C	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2412T>G	1.37:g.114949569A>C						TRIM33_uc010owr.1_Silent_p.A418A|TRIM33_uc010ows.1_Silent_p.A436A|TRIM33_uc001eex.2_Silent_p.A804A|TRIM33_uc001eey.1_5'UTR	p.A804A	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2496	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	804					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.2412T>G	CCDS872.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463823	0.26335	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.8	-0.511	0.11970	.	.	.	.	.	T	0.28034	0.0691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20140	-1.0284	4	.	.	.	-2.8584	4.0993	0.10005	0.346:0.0:0.2993:0.3547	.	.	.	.	R	565	.	.	L	-	2	0	TRIM33	114751092	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.149000	0.16243	0.231000	0.21079	0.528000	0.53228	CTT		PASS	0.433	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		17	63	17	63	---	---	---	---
NBPF7	343505	broad.mit.edu	37	1	120386969	120386969	+	IGR	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:120386969C>T								REG4 (32686 upstream) : ADAM30 (49186 downstream)														p.V64I(1)									ATTTGAGTTACAAGAAATTTC	0.423											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010oxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(190-192)GTA>ATA		hypothetical protein LOC343505							106.0	119.0	115.0					1																	120386969		2097	4246	6343	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120386969C>T																													1.37:g.120386969C>T			OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1503		p.V64I	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	1	811	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	64						Missense_Mutation	SNP		37	c.190G>A																																																																																				0	PASS	0.423									22	86	22	86	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144886153	144886153	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:144886153C>T	ENST00000369354.3	-	23	3270	c.3081G>A	c.(3079-3081)ctG>ctA	p.L1027L	PDE4DIP_ENST00000369356.4_Silent_p.L1027L|PDE4DIP_ENST00000313382.9_Silent_p.L1093L|PDE4DIP_ENST00000369359.4_Silent_p.L1164L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.L1164L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1027					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.L1027L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTAGCTCCTTCAGTTCCTCCT	0.522			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3079-3081)CTG>CTA		phosphodiesterase 4D interacting protein isoform							205.0	181.0	189.0					1																	144886153		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886153C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3081G>A	1.37:g.144886153C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1093L|PDE4DIP_uc001elv.3_Silent_p.L34L	p.L1027L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3372	-			1027			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3081G>A	CCDS30824.1																																																																																				PASS	0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		21	117	21	117	---	---	---	---
ACP6	51205	broad.mit.edu	37	1	147120111	147120111	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:147120111G>T	ENST00000369238.6	-	9	1527	c.1080C>A	c.(1078-1080)acC>acA	p.T360T	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	360					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.T360T(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AAAGTTCCATGGTCAGGTCAA	0.512																																						uc001epr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1078-1080)ACC>ACA		acid phosphatase 6, lysophosphatidic precursor							147.0	131.0	136.0					1																	147120111		2203	4300	6503	SO:0001819	synonymous_variant	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147120111G>T	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.1080C>A	1.37:g.147120111G>T							p.T360T	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			9	1544	-	all_hematologic(923;0.0276)		360					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	c.1080C>A	CCDS928.1																																																																																				PASS	0.512	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		5	54	5	54	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149879602	149879602	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:149879602G>T	ENST00000369146.3	-	9	2026	c.1536C>A	c.(1534-1536)ttC>ttA	p.F512L	SV2A_ENST00000369145.1_Missense_Mutation_p.F512L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	512					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.F512L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACTTGTCATTGAAGTACTGCC	0.488																																						uc001etg.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)	7						c.(1534-1536)TTC>TTA		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						143.0	142.0	142.0					1																	149879602		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149879602G>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1536C>A	1.37:g.149879602G>T	ENSP00000358142:p.Phe512Leu					SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.F512L	p.F512L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		9	2027	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		512			Extracellular (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.1536C>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307809	0.23821	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.39997	1.05;1.05	5.26	4.35	0.52113	Major facilitator superfamily domain (1);	0.141330	0.47093	D	0.000256	T	0.13500	0.0327	L	0.35414	1.06	0.49798	D	0.999823	B	0.06786	0.001	B	0.09377	0.004	T	0.07328	-1.0778	10	0.10636	T	0.68	-17.8602	11.4677	0.50249	0.0864:0.0:0.9136:0.0	.	512	Q7L0J3	SV2A_HUMAN	L	512	ENSP00000358142:F512L;ENSP00000358141:F512L	ENSP00000358141:F512L	F	-	3	2	SV2A	148146226	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.946000	0.29069	1.458000	0.47871	0.555000	0.69702	TTC		PASS	0.488	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			26	59	26	59	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057617	152057617	+	Silent	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:152057617A>T	ENST00000368806.1	-	3	2605	c.2541T>A	c.(2539-2541)tcT>tcA	p.S847S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	847							calcium ion binding (GO:0005509)	p.S847S(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGAAAAAGACAGAACAATCTG	0.502																																						uc001ezo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2539-2541)TCT>TCA		trichohyalin-like 1							222.0	194.0	204.0					1																	152057617		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152057617A>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2541T>A	1.37:g.152057617A>T							p.S847S	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2606	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		847					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.2541T>A	CCDS30857.1																																																																																				PASS	0.502	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		30	51	30	51	---	---	---	---
LCE2D	353141	broad.mit.edu	37	1	152636867	152636867	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:152636867C>T	ENST00000368784.1	+	2	341	c.286C>T	c.(286-288)Cct>Tct	p.P96S		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	96	Cys-rich.				keratinization (GO:0031424)			p.P96S(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGAGTGAACCTTCTGGGGC	0.642																																						uc001fag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CCT>TCT		late cornified envelope 2D							42.0	54.0	50.0					1																	152636867		2194	4284	6478	SO:0001583	missense	353141				keratinization			g.chr1:152636867C>T	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.286C>T	1.37:g.152636867C>T	ENSP00000357773:p.Pro96Ser						p.P96S	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	341	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		96			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.286C>T	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	c	4.597	0.110923	0.08831	.	.	ENSG00000187223	ENST00000368784	T	0.03301	3.98	2.75	-1.04	0.10068	.	.	.	.	.	T	0.00936	0.0031	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47849	-0.9085	9	0.34782	T	0.22	.	1.2446	0.01970	0.192:0.315:0.3405:0.1525	.	96	Q5TA82	LCE2D_HUMAN	S	96	ENSP00000357773:P96S	ENSP00000357773:P96S	P	+	1	0	LCE2D	150903491	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.855000	0.01663	-0.698000	0.05085	0.305000	0.20034	CCT		PASS	0.642	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		13	35	13	35	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153984787	153984787	+	Silent	SNP	G	G	T	rs537840004	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:153984787G>T	ENST00000368559.3	-	34	4784	c.4713C>A	c.(4711-4713)acC>acA	p.T1571T	NUP210L_ENST00000368553.1_Silent_p.T504T|NUP210L_ENST00000271854.3_Silent_p.T1571T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1571					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.T1571T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGAGGGTATTGGTGAGATAAG	0.403																																						uc001fdw.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4711-4713)ACC>ACA		nucleoporin 210kDa-like isoform 1							317.0	283.0	294.0					1																	153984787		1949	4161	6110	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153984787G>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4713C>A	1.37:g.153984787G>T						NUP210L_uc009woq.2_Silent_p.T480T|NUP210L_uc010peh.1_Silent_p.T1571T	p.T1571T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		34	4785	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1571					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.4713C>A	CCDS41399.1																																																																																				PASS	0.403	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		6	104	6	104	---	---	---	---
TDRD10	126668	broad.mit.edu	37	1	154514508	154514508	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:154514508G>T	ENST00000368480.3	+	7	463	c.378G>T	c.(376-378)gaG>gaT	p.E126D	TDRD10_ENST00000368482.4_Missense_Mutation_p.E126D|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	126							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E126D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGTGTTGGAGAAGGCTTCTG	0.488																																						uc009wow.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)GAG>GAT		tudor domain containing 10 isoform a							88.0	86.0	87.0					1																	154514508		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154514508G>T	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.378G>T	1.37:g.154514508G>T	ENSP00000357465:p.Glu126Asp					TDRD10_uc001ffd.2_Missense_Mutation_p.E126D|TDRD10_uc001ffe.2_Missense_Mutation_p.E47D	p.E126D	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		7	1216	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		126					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.378G>T	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284535	0.23392	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.25085	1.83;1.82	3.23	0.942	0.19525	.	0.765205	0.10689	N	0.645418	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.09377	0.002;0.004	T	0.37753	-0.9692	10	0.54805	T	0.06	.	3.1989	0.06643	0.2048:0.2636:0.5316:0.0	.	126;126	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	D	126	ENSP00000357467:E126D;ENSP00000357465:E126D	ENSP00000357465:E126D	E	+	3	2	TDRD10	152781132	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.193000	0.17116	0.237000	0.21200	0.555000	0.69702	GAG		PASS	0.488	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		6	23	6	23	---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155148375	155148375	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:155148375T>C	ENST00000334634.4	+	3	337	c.337T>C	c.(337-339)Tac>Cac	p.Y113H	TRIM46_ENST00000368383.3_Missense_Mutation_p.Y113H|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000545012.1_5'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_Missense_Mutation_p.Y113H|RP11-201K10.3_ENST00000473363.2_Intron|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000543729.1_Missense_Mutation_p.Y120H|TRIM46_ENST00000368382.1_Missense_Mutation_p.Y90H|TRIM46_ENST00000368385.4_Missense_Mutation_p.Y113H	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	113						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y113H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGGGACATACCCTGGGAG	0.552																																						uc001fhs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(337-339)TAC>CAC		tripartite motif-containing 46							122.0	127.0	125.0					1																	155148375		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155148375T>C		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.337T>C	1.37:g.155148375T>C	ENSP00000334657:p.Tyr113His					RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.Y100H|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.Y113H|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_5'UTR|TRIM46_uc001fhu.1_Missense_Mutation_p.Y90H|TRIM46_uc009wpg.1_Missense_Mutation_p.Y100H|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhv.3_Missense_Mutation_p.Y100H|TRIM46_uc001fhw.1_RNA	p.Y113H	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	420	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		113					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.337T>C	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.283663	0.23392	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T	0.60171	0.78;0.55;0.72;0.47;0.21;0.27	4.53	4.53	0.55603	Zinc finger, RING-type (1);	0.137253	0.50627	D	0.000104	T	0.23210	0.0561	N	0.22421	0.69	0.40539	D	0.981001	B;B;B;B;B	0.27351	0.011;0.101;0.176;0.017;0.022	B;B;B;B;B	0.23150	0.017;0.039;0.044;0.008;0.025	T	0.09164	-1.0687	10	0.17369	T	0.5	.	12.1314	0.53944	0.0:0.0:0.0:1.0	.	100;113;90;113;113	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	H	120;100;113;113;113;90;113	ENSP00000442719:Y120H;ENSP00000357369:Y113H;ENSP00000376245:Y113H;ENSP00000357367:Y113H;ENSP00000357366:Y90H;ENSP00000334657:Y113H	ENSP00000334657:Y113H	Y	+	1	0	TRIM46	153414999	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	5.304000	0.65744	2.024000	0.59613	0.533000	0.62120	TAC		PASS	0.552	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		40	94	40	94	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159275910	159275910	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:159275910G>T	ENST00000368115.1	+	5	563	c.464G>T	c.(463-465)tGg>tTg	p.W155L	FCER1A_ENST00000368114.1_Missense_Mutation_p.W122L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	155	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.W155L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTCAAGTACTGGTATGAGAAC	0.493																																						uc001ftq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(463-465)TGG>TTG		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						182.0	160.0	167.0					1																	159275910		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275910G>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.464G>T	1.37:g.159275910G>T	ENSP00000357097:p.Trp155Leu						p.W155L	NM_002001	NP_001992	P12319	FCERA_HUMAN			5	563	+	all_hematologic(112;0.0429)		155			Ig-like 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368115.1	37	c.464G>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058768	0.55325	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.08370	3.1;3.1	4.78	-0.559	0.11792	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.318910	0.04898	N	0.450703	T	0.02047	0.0064	N	0.24115	0.695	0.25566	N	0.98695	P	0.46395	0.877	P	0.45276	0.475	T	0.28004	-1.0057	10	0.41790	T	0.15	.	1.8065	0.03082	0.177:0.2882:0.3829:0.152	.	155	P12319	FCERA_HUMAN	L	155;122	ENSP00000357097:W155L;ENSP00000357096:W122L	ENSP00000357096:W122L	W	+	2	0	FCER1A	157542534	0.109000	0.22037	0.052000	0.19188	0.987000	0.75469	-0.261000	0.08694	-0.276000	0.09206	0.650000	0.86243	TGG		PASS	0.493	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		5	83	5	83	---	---	---	---
VSIG8	391123	broad.mit.edu	37	1	159827692	159827692	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:159827692C>T	ENST00000368100.1	-	4	630	c.495G>A	c.(493-495)ctG>ctA	p.L165L	C1orf204_ENST00000368102.1_5'Flank|C1orf204_ENST00000491974.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	165	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)	p.L165L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CATAGCACTTCAGCACCACAT	0.592																																						uc001fuh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)CTG>CTA		V-set and immunoglobulin domain containing 8							75.0	68.0	70.0					1																	159827692		2203	4300	6503	SO:0001819	synonymous_variant	391123					integral to membrane		g.chr1:159827692C>T		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.495G>A	1.37:g.159827692C>T						C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	p.L165L	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN			4	631	-	all_hematologic(112;0.0597)		165			Extracellular (Potential).|Ig-like V-type 2.		Q5VU14	Silent	SNP	ENST00000368100.1	37	c.495G>A	CCDS30913.1																																																																																				PASS	0.592	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		4	16	4	16	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160109474	160109474	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:160109474C>A	ENST00000361216.3	+	21	2974	c.2885C>A	c.(2884-2886)gCt>gAt	p.A962D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A962D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	962					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|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.A962D(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACGGCGTTGGCTGCCTTTCTC	0.577																																						uc001fvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(2884-2886)GCT>GAT		Na+/K+ -ATPase alpha 2 subunit proprotein							123.0	108.0	113.0					1																	160109474		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109474C>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2885C>A	1.37:g.160109474C>A	ENSP00000354490:p.Ala962Asp					ATP1A2_uc001fvd.2_Missense_Mutation_p.A681D	p.A962D	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		21	3017	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		962			Helical; (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2885C>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.105819|4.105819	0.77096|0.77096	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.96073|.	-3.9;-3.9|.	4.37|4.37	4.37|4.37	0.52481|0.52481	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87164|0.87164	0.6109|0.6109	H|H	0.98333|0.98333	4.205|4.205	0.80722|0.80722	D|D	1|1	P;D|.	0.56287|.	0.946;0.975|.	P;D|.	0.65874|.	0.899;0.939|.	D|D	0.91600|0.91600	0.5294|0.5294	10|5	0.87932|.	D|.	0|.	.|.	14.8061|14.8061	0.69956|0.69956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	862;962|.	F5GXJ7;P50993|.	.;AT1A2_HUMAN|.	D|M	962;962;665|656	ENSP00000354490:A962D;ENSP00000376066:A962D|.	ENSP00000354490:A962D|.	A|L	+|+	2|1	0|2	ATP1A2|ATP1A2	158376098|158376098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.585000|7.585000	0.82584|0.82584	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GCT|CTG		PASS	0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		11	28	11	28	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161042499	161042499	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:161042499C>A	ENST00000368012.3	-	9	1787	c.1485G>T	c.(1483-1485)aaG>aaT	p.K495N	ARHGAP30_ENST00000368013.3_5'Flank|PVRL4_ENST00000486694.1_5'UTR|ARHGAP30_ENST00000368015.1_5'Flank|PVRL4_ENST00000453926.2_Missense_Mutation_p.K204N	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	495					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K495N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCCGTGGGCTTGGCCCGTA	0.597																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1483-1485)AAG>AAT		poliovirus receptor-related 4 precursor							138.0	117.0	125.0					1																	161042499		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161042499C>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1485G>T	1.37:g.161042499C>A	ENSP00000356991:p.Lys495Asn					ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxl.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.K149N|PVRL4_uc010pjz.1_Missense_Mutation_p.K204N	p.K495N	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		9	1784	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		495			Cytoplasmic (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1485G>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414199	0.62511	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.60920	0.15;0.66	4.85	0.58	0.17402	.	0.000000	0.49916	D	0.000140	T	0.40347	0.1113	N	0.19112	0.55	0.35118	D	0.766812	D;D;D	0.76494	0.981;0.981;0.999	D;D;D	0.78314	0.95;0.95;0.991	T	0.32161	-0.9917	10	0.27785	T	0.31	.	7.8586	0.29497	0.0:0.585:0.0:0.415	.	204;149;495	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	N	495;204	ENSP00000356991:K495N;ENSP00000406015:K204N	ENSP00000356991:K495N	K	-	3	2	PVRL4	159309123	0.997000	0.39634	1.000000	0.80357	0.924000	0.55760	0.180000	0.16860	0.243000	0.21327	-0.140000	0.14226	AAG		PASS	0.597	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		24	36	24	36	---	---	---	---
C1orf111	284680	broad.mit.edu	37	1	162344105	162344105	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:162344105G>T	ENST00000367935.5	-	3	598	c.519C>A	c.(517-519)tcC>tcA	p.S173S	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	173								p.S173S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GGTGCCACCTGGAAGCCATTA	0.582																																						uc001gbx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(517-519)TCC>TCA		hypothetical protein LOC284680							193.0	185.0	188.0					1																	162344105		2203	4300	6503	SO:0001819	synonymous_variant	284680							g.chr1:162344105G>T	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.519C>A	1.37:g.162344105G>T							p.S173S	NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	583	-	all_hematologic(112;0.15)		173					Q6X961|Q8NEC3	Silent	SNP	ENST00000367935.5	37	c.519C>A	CCDS1238.1																																																																																				PASS	0.582	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		7	185	7	185	---	---	---	---
UAP1	6675	broad.mit.edu	37	1	162551080	162551080	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:162551080G>T	ENST00000367925.1	+	4	697	c.665G>T	c.(664-666)gGg>gTg	p.G222V	UAP1_ENST00000367926.4_Missense_Mutation_p.G222V|UAP1_ENST00000271469.3_Missense_Mutation_p.G222V|UAP1_ENST00000367924.1_Missense_Mutation_p.G222V			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	222					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|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)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.G222V(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTCCAGATGGGAATGGTGGT	0.388																																						uc001gce.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(664-666)GGG>GTG		UDP-N-acetylglucosamine pyrophosphorylase 1							216.0	220.0	218.0					1																	162551080		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162551080G>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.665G>T	1.37:g.162551080G>T	ENSP00000356902:p.Gly222Val						p.G222V	NM_003115	NP_003106	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		5	994	+	all_hematologic(112;0.115)		222					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.665G>T		.	.	.	.	.	.	.	.	.	.	G	25.3	4.620455	0.87460	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.91290	0.7254	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93724	0.7035	9	0.87932	D	0	-20.4648	17.5485	0.87870	0.0:0.0:1.0:0.0	.	222	Q16222-2	.	V	222	ENSP00000356903:G222V;ENSP00000271469:G222V;ENSP00000356902:G222V;ENSP00000356901:G222V	ENSP00000271469:G222V	G	+	2	0	UAP1	160817704	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.614000	0.98353	2.548000	0.85928	0.591000	0.81541	GGG		PASS	0.388	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		7	142	7	142	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166905975	166905975	+	Splice_Site	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:166905975C>A	ENST00000271417.3	-	5	612		c.e5-1		ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Splice_Site|ILDR2_ENST00000529071.1_Splice_Site|ILDR2_ENST00000528703.1_Splice_Site|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2						cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.?(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AACACCCACTCTGGAAGGATG	0.602																																						uc001gdx.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5-1		immunoglobulin-like domain containing receptor							59.0	67.0	64.0					1																	166905975		2203	4300	6503	SO:0001630	splice_region_variant	387597					integral to membrane		g.chr1:166905975C>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.557-1G>T	1.37:g.166905975C>A							p.E186_splice	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			5	613	-									Splice_Site	SNP	ENST00000271417.3	37	c.557_splice	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800457	0.90538	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000529071;ENST00000528703	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8688	0.96842	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ILDR2	165172599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.485000	0.81204	2.689000	0.91719	0.563000	0.77884	.		PASS	0.602	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351	Intron	5	24	5	24	---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166963298	166963298	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:166963298A>T	ENST00000367872.4	+	5	759	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	MAEL_ENST00000367870.2_Missense_Mutation_p.Q141L|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	172					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.Q172L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTTCATTGTCAGGCTGCAAGT	0.323																																						uc001gdy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(514-516)CAG>CTG		maelstrom homolog							78.0	80.0	79.0					1																	166963298		2203	4299	6502	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166963298A>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.515A>T	1.37:g.166963298A>T	ENSP00000356846:p.Gln172Leu					MAEL_uc001gdz.1_Missense_Mutation_p.Q141L|MAEL_uc009wvf.1_RNA	p.Q172L	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			5	586	+			172					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.515A>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136878	0.77662	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.48522	0.86;0.81;0.84	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000011	T	0.47507	0.1449	L	0.29908	0.895	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.54403	-0.8299	10	0.66056	D	0.02	.	13.7738	0.63041	1.0:0.0:0.0:0.0	.	141;172	E9JVC3;Q96JY0	.;MAEL_HUMAN	L	172;141;141	ENSP00000356846:Q172L;ENSP00000356844:Q141L;ENSP00000402143:Q141L	ENSP00000356844:Q141L	Q	+	2	0	MAEL	165229922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.632000	0.67819	2.086000	0.62901	0.482000	0.46254	CAG		PASS	0.323	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		5	11	5	11	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172050971	172050971	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:172050971G>T	ENST00000355305.5	+	12	1579		c.e12-1		DNM3_ENST00000367731.1_Splice_Site|DNM3_ENST00000520906.1_Splice_Site|DNM3_ENST00000367733.2_Splice_Site|DNM3_ENST00000358155.4_Splice_Site			Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTGACTTATAGGTATTGCTAT	0.338																																						uc001gie.2																			1	Unknown(1)		lung(1)	breast(1)	1						c.e12-1		dynamin 3 isoform a							149.0	135.0	139.0					1																	172050971		1851	4091	5942	SO:0001630	splice_region_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172050971G>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1423-1G>T	1.37:g.172050971G>T						DNM3_uc001gid.3_Splice_Site_p.V475_splice|DNM3_uc009wwb.2_Splice_Site_p.V475_splice|DNM3_uc001gif.2_Splice_Site_p.V475_splice	p.V475_splice	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			12	1599	+								A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Splice_Site	SNP	ENST00000355305.5	37	c.1423_splice		.	.	.	.	.	.	.	.	.	.	G	10.87	1.472274	0.26423	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6157	0.76767	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNM3	170317594	1.000000	0.71417	0.991000	0.47740	0.011000	0.07611	7.070000	0.76763	2.832000	0.97577	0.655000	0.94253	.		PASS	0.338	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	Intron	6	72	6	72	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175092614	175092614	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:175092614C>A	ENST00000239462.4	+	12	2842	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	910	Fibronectin type-III 8. {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.A910D(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)		CCGGTTCAGGCCACCATTGAC	0.537																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2728-2730)GCC>GAC		tenascin N precursor							72.0	66.0	68.0					1																	175092614		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092614C>A	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.2729C>A	1.37:g.175092614C>A	ENSP00000239462:p.Ala910Asp						p.A910D	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2842	+		Breast(1374;0.000962)	910			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2729C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806078	0.50421	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57436	0.4	4.98	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.118186	0.56097	D	0.000028	T	0.78233	0.4251	M	0.91818	3.245	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.82866	-0.0245	10	0.56958	D	0.05	.	16.3803	0.83458	0.0:1.0:0.0:0.0	.	910	Q9UQP3	TENN_HUMAN	D	910;733	ENSP00000239462:A910D	ENSP00000239462:A910D	A	+	2	0	TNN	173359237	1.000000	0.71417	0.242000	0.24170	0.128000	0.20619	4.962000	0.63687	2.446000	0.82766	0.462000	0.41574	GCC		PASS	0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		19	40	19	40	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175334299	175334299	+	Missense_Mutation	SNP	C	C	G	rs371427528		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:175334299C>G	ENST00000367674.2	-	12	3142	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	TNR_ENST00000263525.2_Missense_Mutation_p.D812H			Q92752	TENR_HUMAN	tenascin R	812	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.D812H(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCCTCATCCCTGGGGCTG	0.517																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2434-2436)GAT>CAT		tenascin R precursor							116.0	108.0	111.0					1																	175334299		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334299C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2434G>C	1.37:g.175334299C>G	ENSP00000356646:p.Asp812His					TNR_uc009wwu.1_Missense_Mutation_p.D812H	p.D812H	NM_003285	NP_003276	Q92752	TENR_HUMAN			10	2515	-	Renal(580;0.146)		812			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2434G>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017097	0.75161	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.52983	0.64;0.64	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049984	0.85682	D	0.000000	T	0.66839	0.2830	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67480	-0.5660	10	0.56958	D	0.05	.	13.1445	0.59452	0.0:0.9269:0.0:0.0731	.	812	Q92752	TENR_HUMAN	H	812	ENSP00000356646:D812H;ENSP00000263525:D812H	ENSP00000263525:D812H	D	-	1	0	TNR	173600922	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	5.645000	0.67909	2.793000	0.96121	0.655000	0.94253	GAT		PASS	0.517	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	34	19	34	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181767670	181767670	+	Silent	SNP	G	G	C	rs374903430		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:181767670G>C	ENST00000367573.2	+	48	6642	c.6642G>C	c.(6640-6642)ccG>ccC	p.P2214P	CACNA1E_ENST00000360108.3_Silent_p.P2195P|CACNA1E_ENST00000367570.1_Silent_p.P2171P|CACNA1E_ENST00000358338.5_Silent_p.P2103P|CACNA1E_ENST00000357570.5_Silent_p.P2165P|CACNA1E_ENST00000367567.4_Silent_p.P1778P|CACNA1E_ENST00000526775.1_Silent_p.P2152P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2214					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.P2171P(1)|p.P2214P(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCAACTCTCCGCACCCCCAGC	0.622																																						uc001gow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6511-6513)CCG>CCC		calcium channel, voltage-dependent, R type,							53.0	61.0	58.0					1																	181767670		2150	4250	6400	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767670G>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6642G>C	1.37:g.181767670G>C						CACNA1E_uc009wxs.2_Silent_p.P2059P|CACNA1E_uc009wxt.2_Silent_p.P1440P	p.P2171P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			47	6678	+			2214			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.6513G>C	CCDS55664.1																																																																																				PASS	0.622	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	24	3	24	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196967353	196967353	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:196967353C>A	ENST00000256785.4	+	7	1175	c.1066C>A	c.(1066-1068)Cgt>Agt	p.R356S	CFHR5_ENST00000367414.5_Missense_Mutation_p.R380S			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	356	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> H (in dbSNP:rs35662416).		complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R356S(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTCTAGAATACGTTACAGATG	0.348																																						uc001gts.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1066-1068)CGT>AGT		complement factor H-related 5 precursor							36.0	36.0	36.0					1																	196967353		2203	4297	6500	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196967353C>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1066C>A	1.37:g.196967353C>A	ENSP00000256785:p.Arg356Ser						p.R356S	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			7	1194	+			356			Sushi 6.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1066C>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	1.997	-0.430376	0.04669	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64260	-0.09;-0.09	3.28	0.74	0.18330	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29882	0.0747	N	0.04787	-0.16	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.27088	-1.0084	9	0.02654	T	1	.	3.6949	0.08360	0.5467:0.2427:0.0:0.2107	.	356	Q9BXR6	FHR5_HUMAN	S	380;356	ENSP00000356384:R380S;ENSP00000256785:R356S	ENSP00000256785:R356S	R	+	1	0	CFHR5	195233976	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.148000	0.16224	0.025000	0.15241	0.289000	0.19496	CGT		PASS	0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		11	19	11	19	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202700083	202700083	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:202700083G>T	ENST00000367265.3	-	25	5294	c.4130C>A	c.(4129-4131)gCt>gAt	p.A1377D	KDM5B_ENST00000367264.2_Missense_Mutation_p.A1413D	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1377					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A1377D(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGTCTGCTGAGCAGGGCTTGG	0.532																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(4129-4131)GCT>GAT		jumonji, AT rich interactive domain 1B							108.0	89.0	95.0					1																	202700083		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202700083G>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4130C>A	1.37:g.202700083G>T	ENSP00000356234:p.Ala1377Asp					KDM5B_uc009xag.2_Missense_Mutation_p.A1413D|KDM5B_uc001gyg.1_Missense_Mutation_p.A1219D	p.A1377D	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			25	4246	-			1377					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4130C>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182155	0.38511	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85702	-1.9;-1.71;-2.02	6.17	3.21	0.36854	.	0.626286	0.17972	N	0.155838	T	0.60521	0.2275	N	0.02539	-0.55	0.09310	N	1	B;B	0.27416	0.178;0.001	B;B	0.24155	0.051;0.001	T	0.51395	-0.8711	10	0.08599	T	0.76	-1.1946	7.8178	0.29269	0.1952:0.1184:0.6864:0.0	.	1413;1377	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	D	1377;1219;1413;1219	ENSP00000356234:A1377D;ENSP00000356233:A1413D;ENSP00000235790:A1219D	ENSP00000235790:A1219D	A	-	2	0	KDM5B	200966706	0.005000	0.15991	0.015000	0.15790	0.967000	0.64934	1.534000	0.36051	0.433000	0.26313	0.655000	0.94253	GCT		PASS	0.532	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		14	22	14	22	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203652420	203652420	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:203652420G>T	ENST00000357681.5	+	2	1210	c.87G>T	c.(85-87)ctG>ctT	p.L29L	ATP2B4_ENST00000341360.2_Silent_p.L29L|ATP2B4_ENST00000367218.3_Silent_p.L29L|ATP2B4_ENST00000391954.2_Silent_p.L29L|ATP2B4_ENST00000367219.3_Silent_p.L29L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	29					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.L29L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAATGGAACTGAGGAAGCTCA	0.522																																						uc001gzw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(85-87)CTG>CTT		plasma membrane calcium ATPase 4 isoform 4b							172.0	160.0	164.0					1																	203652420		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203652420G>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.87G>T	1.37:g.203652420G>T						ATP2B4_uc001gzv.2_Silent_p.L29L|ATP2B4_uc009xaq.2_Silent_p.L29L	p.L29L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	971	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		29			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.87G>T	CCDS1440.1																																																																																				PASS	0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		6	152	6	152	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210334198	210334198	+	Silent	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:210334198A>G	ENST00000472886.1	+	8	1493	c.1479A>G	c.(1477-1479)ctA>ctG	p.L493L	SYT14_ENST00000422431.1_Silent_p.L557L|SYT14_ENST00000537238.1_Silent_p.L455L|SYT14_ENST00000367015.1_Silent_p.L455L|SYT14_ENST00000534859.1_Silent_p.L519L|SYT14_ENST00000367019.1_Silent_p.L512L|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	493	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.L493L(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGTGGCCCTATTTCAGCTTT	0.418																																						uc009xcv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1477-1479)CTA>CTG		synaptotagmin XIV isoform 4							138.0	141.0	140.0					1																	210334198		2203	4299	6502	SO:0001819	synonymous_variant	255928					integral to membrane		g.chr1:210334198A>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1479A>G	1.37:g.210334198A>G						SYT14_uc001hhs.3_Silent_p.L557L|SYT14_uc001hht.3_Silent_p.L512L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.L538L|SYT14_uc010pso.1_Silent_p.L455L|SYT14_uc010psp.1_Silent_p.L31L	p.L493L	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1551	+			493			Cytoplasmic (Potential).|C2 2.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	c.1479A>G	CCDS31014.1																																																																																				PASS	0.418	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		23	71	23	71	---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217793409	217793409	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:217793409C>A	ENST00000366935.3	-	2	599	c.489G>T	c.(487-489)aaG>aaT	p.K163N	GPATCH2_ENST00000366934.3_Missense_Mutation_p.K163N	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	163					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.K163N(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TGCGTTTTACCTTTCTCCTCC	0.453																																						uc001hlf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)AAG>AAT		G patch domain containing 2							197.0	178.0	185.0					1																	217793409		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217793409C>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.489G>T	1.37:g.217793409C>A	ENSP00000355902:p.Lys163Asn					GPATCH2_uc001hlg.3_Missense_Mutation_p.K163N	p.K163N	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	2	585	-			163					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.489G>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373280	0.61624	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.67865	0.22;-0.29	5.66	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.72894	2.215	0.46725	D	0.999174	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78331	-0.2245	10	0.87932	D	0	.	8.7489	0.34602	0.0:0.6684:0.0:0.3316	.	163;163	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	N	163	ENSP00000355902:K163N;ENSP00000355901:K163N	ENSP00000355901:K163N	K	-	3	2	GPATCH2	215860032	0.997000	0.39634	0.999000	0.59377	0.911000	0.54048	0.533000	0.23082	1.391000	0.46566	0.591000	0.81541	AAG		PASS	0.453	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		7	101	7	101	---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220276788	220276788	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:220276788G>T	ENST00000302637.5	+	8	1054		c.e8-1		IARS2_ENST00000366922.1_Splice_Site	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.?(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTTTATGTTAGGTATGCTGTT	0.318																																						uc001hmc.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.e8-1		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						91.0	90.0	91.0					1																	220276788		2203	4300	6503	SO:0001630	splice_region_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220276788G>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.951-1G>T	1.37:g.220276788G>T							p.K317_splice	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	8	1055	+								B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Splice_Site	SNP	ENST00000302637.5	37	c.951_splice	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541191	0.27563	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	.	.	.	5.44	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.425	0.44373	0.0699:0.0:0.7957:0.1344	.	.	.	.	.	-1	.	.	.	+	.	.	IARS2	218343411	1.000000	0.71417	0.443000	0.26883	0.394000	0.30568	6.576000	0.74023	0.651000	0.30788	-0.182000	0.12963	.		PASS	0.318	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	Intron	5	60	5	60	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223568305	223568305	+	Missense_Mutation	SNP	G	G	T	rs202007308		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:223568305G>T	ENST00000366875.3	+	1	1591	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		496								p.E496D(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGGAGTCAGAGGAACAGAGGA	0.607																																						uc001hoa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1486-1488)GAG>GAT		hypothetical protein LOC164127							79.0	96.0	90.0					1																	223568305		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223568305G>T																												ENST00000366875.3:c.1488G>T	1.37:g.223568305G>T	ENSP00000355840:p.Glu496Asp						p.E496D	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1591	+			496			Potential.		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1488G>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944948	0.34283	.	.	ENSG00000178395	ENST00000366875	T	0.27720	1.65	5.48	2.44	0.29823	.	.	.	.	.	T	0.27967	0.0689	L	0.58101	1.795	0.26959	N	0.965849	B	0.21821	0.061	B	0.21917	0.037	T	0.20438	-1.0275	9	0.48119	T	0.1	.	6.1168	0.20132	0.1668:0.0:0.6799:0.1533	.	496	Q8N715	CA065_HUMAN	D	496	ENSP00000355840:E496D	ENSP00000355840:E496D	E	+	3	2	C1orf65	221634928	1.000000	0.71417	0.796000	0.32109	0.542000	0.35054	0.567000	0.23608	1.306000	0.44926	0.655000	0.94253	GAG		PASS	0.607	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			18	28	18	28	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226556023	226556023	+	Splice_Site	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:226556023C>A	ENST00000366794.5	-	16	2298		c.e16-1		PARP1_ENST00000490921.1_Splice_Site	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1						base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGACACCGCCTGGAGAGGAG	0.587								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3																			1	Unknown(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.e16-1	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							47.0	50.0	49.0					1																	226556023		2203	4300	6503	SO:0001630	splice_region_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226556023C>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2155-1G>T	1.37:g.226556023C>A							p.A719_splice	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	16	2326	-	Breast(184;0.133)							B1ANJ4|Q8IUZ9	Splice_Site	SNP	ENST00000366794.5	37	c.2155_splice	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119990	0.94385	.	.	ENSG00000143799	ENST00000366794	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5896	0.95503	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARP1	224622646	1.000000	0.71417	0.899000	0.35326	0.654000	0.38779	7.484000	0.81180	2.628000	0.89032	0.655000	0.94253	.		PASS	0.587	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	Intron	21	30	21	30	---	---	---	---
PSEN2	5664	broad.mit.edu	37	1	227079536	227079536	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:227079536G>A	ENST00000366783.3	+	11	1499	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	PSEN2_ENST00000366782.1_Missense_Mutation_p.E388K|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000472139.2_Missense_Mutation_p.E211K|PSEN2_ENST00000340188.4_Missense_Mutation_p.E322K|PSEN2_ENST00000422240.2_Missense_Mutation_p.E354K|PSEN2_ENST00000391872.2_Missense_Mutation_p.E388K	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	355					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.E355K(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GCTGGAGGAAGAGGAGGAAAG	0.602																																						uc009xeo.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1063-1065)GAG>AAG		presenilin 2 isoform 1							76.0	73.0	74.0					1																	227079536		2203	4300	6503	SO:0001583	missense	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227079536G>A	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.1063G>A	1.37:g.227079536G>A	ENSP00000355747:p.Glu355Lys					PSEN2_uc009xep.1_Missense_Mutation_p.E354K|PSEN2_uc001hqk.2_RNA	p.E355K	NM_000447	NP_000438	P49810	PSN2_HUMAN			11	1490	+		Prostate(94;0.0771)	355			Cytoplasmic (Potential).		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.1063G>A	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889567	0.72524	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14;-6.14;-6.14	4.8	4.8	0.61643	.	0.979427	0.08356	N	0.958459	D	0.99162	0.9710	L	0.49126	1.545	0.53688	D	0.999975	B;B	0.32382	0.368;0.316	B;P	0.45913	0.217;0.497	D	0.95692	0.8741	10	0.37606	T	0.19	.	13.2244	0.59907	0.0:0.0:1.0:0.0	.	354;355	A8K8D4;P49810	.;PSN2_HUMAN	K	355;322;354;388;388;211	ENSP00000355747:E355K;ENSP00000339860:E322K;ENSP00000403737:E354K;ENSP00000355746:E388K;ENSP00000375745:E388K;ENSP00000427806:E211K	ENSP00000339860:E322K	E	+	1	0	PSEN2	225146159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.877000	0.63086	2.495000	0.84180	0.563000	0.77884	GAG		PASS	0.602	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		9	19	9	19	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228473926	228473926	+	Missense_Mutation	SNP	A	A	G	rs371786265		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:228473926A>G	ENST00000422127.1	+	34	9196	c.9152A>G	c.(9151-9153)aAt>aGt	p.N3051S	OBSCN_ENST00000366709.4_Missense_Mutation_p.N170S|OBSCN_ENST00000284548.11_Missense_Mutation_p.N3051S|OBSCN_ENST00000359599.6_Missense_Mutation_p.N1898S|OBSCN_ENST00000570156.2_Missense_Mutation_p.N3480S|OBSCN_ENST00000366707.4_Missense_Mutation_p.N170S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3051	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.N3105S(1)|p.N3235S(1)|p.N3334S(1)|p.N3051S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AACGAGCTCAATGAGATCGAT	0.652																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(9151-9153)AAT>AGT		obscurin, cytoskeletal calmodulin and		A	SER/ASN,SER/ASN	1,4217		0,1,2108	39.0	48.0	45.0		9152,9152	3.2	1.0	1		45	1,8453		0,1,4226	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	46,46	0,2,6334	GG,GA,AA		0.0118,0.0237,0.0158	possibly-damaging,possibly-damaging	3051/7969,3051/6621	228473926	2,12670	2109	4227	6336	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228473926A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9152A>G	1.37:g.228473926A>G	ENSP00000409493:p.Asn3051Ser					OBSCN_uc001hsn.2_Missense_Mutation_p.N3051S|OBSCN_uc001hsq.1_Missense_Mutation_p.N307S	p.N3051S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			34	9196	+		Prostate(94;0.0405)	3051			Ig-like 30.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.9152A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801815	0.70682	2.37E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.67	3.18	0.36537	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.287960	0.35067	N	0.003480	T	0.60222	0.2252	M	0.65975	2.015	0.34383	D	0.693344	B;B	0.28801	0.13;0.223	B;B	0.38500	0.139;0.275	T	0.62469	-0.6848	10	0.22706	T	0.39	.	7.7956	0.29146	0.789:0.1382:0.0728:0.0	.	3051;3051	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	3051;3051;170;170;1898	ENSP00000284548:N3051S;ENSP00000409493:N3051S;ENSP00000355668:N170S;ENSP00000355670:N170S;ENSP00000352613:N1898S	ENSP00000284548:N3051S	N	+	2	0	OBSCN	226540549	1.000000	0.71417	0.991000	0.47740	0.224000	0.24922	4.771000	0.62318	0.953000	0.37825	0.459000	0.35465	AAT		PASS	0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	7	5	7	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232581528	232581528	+	Missense_Mutation	SNP	A	A	G	rs200800863		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:232581528A>G	ENST00000366630.1	-	10	3458	c.3100T>C	c.(3100-3102)Tgt>Cgt	p.C1034R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.C1034R|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.C108R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1034					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.C1034R(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGCTCTGAACACCCTCTGTTG	0.552																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3100-3102)TGT>CGT		signal-induced proliferation-associated 1 like							80.0	82.0	81.0					1																	232581528		1934	4117	6051	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232581528A>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3100T>C	1.37:g.232581528A>G	ENSP00000355589:p.Cys1034Arg					SIPA1L2_uc001hvf.2_Missense_Mutation_p.C108R	p.C1034R	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			9	3258	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1034					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3100T>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799607	0.50208	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.63580	-0.05;-0.05;-0.05	5.37	4.23	0.50019	.	0.104835	0.64402	D	0.000003	T	0.73148	0.3550	L	0.59436	1.845	0.80722	D	1	D;D	0.56968	0.967;0.978	P;D	0.66847	0.809;0.947	T	0.74309	-0.3707	10	0.72032	D	0.01	-15.2201	11.6949	0.51538	0.8674:0.0:0.0:0.1326	.	1034;108	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	R	1034;1034;108	ENSP00000355589:C1034R;ENSP00000262861:C1034R;ENSP00000309102:C108R	ENSP00000262861:C1034R	C	-	1	0	SIPA1L2	230648151	1.000000	0.71417	0.929000	0.37066	0.307000	0.27823	8.958000	0.93099	0.866000	0.35629	-0.343000	0.07986	TGT		PASS	0.552	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		36	66	36	66	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497432	240497432	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:240497432C>A	ENST00000319653.9	+	13	4898	c.4668C>A	c.(4666-4668)ctC>ctA	p.L1556L	FMN2_ENST00000545751.1_Silent_p.L152L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L1699L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACAGTGCCTCTTTCCACTGC	0.358																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4666-4668)CTC>CTA		formin 2							114.0	126.0	122.0					1																	240497432		2203	4299	6502	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240497432C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4668C>A	1.37:g.240497432C>A						FMN2_uc010pye.1_Silent_p.L1560L|FMN2_uc010pyf.1_Silent_p.L202L|FMN2_uc010pyg.1_Silent_p.L152L	p.L1556L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		13	4893	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1556			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4668C>A	CCDS31069.2																																																																																				PASS	0.358	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		75	73	75	73	---	---	---	---
ZNF496	84838	broad.mit.edu	37	1	247492858	247492858	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:247492858C>A	ENST00000294753.4	-	3	487	c.23G>T	c.(22-24)cGa>cTa	p.R8L	ZNF496_ENST00000366498.2_Missense_Mutation_p.R8L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	8					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R8L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGCCAAGACTCGGGGGCACAG	0.582																																						uc001ico.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(22-24)CGA>CTA		zinc finger protein 496							62.0	75.0	71.0					1																	247492858		2202	4300	6502	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492858C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.23G>T	1.37:g.247492858C>A	ENSP00000294753:p.Arg8Leu					ZNF496_uc009xgv.2_Missense_Mutation_p.R8L|ZNF496_uc001icp.2_Missense_Mutation_p.R8L|ZNF496_uc010pyv.1_Missense_Mutation_p.R8L	p.R8L	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	488	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		8					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.23G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864433	0.71949	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07908	3.2;3.15	4.11	4.11	0.48088	.	.	.	.	.	T	0.11452	0.0279	N	0.08118	0	0.32806	D	0.500758	D;D	0.67145	0.996;0.996	D;P	0.79108	0.992;0.89	T	0.24297	-1.0164	8	.	.	.	.	12.0547	0.53527	0.0:1.0:0.0:0.0	.	8;8	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	L	8	ENSP00000294753:R8L;ENSP00000355454:R8L	.	R	-	2	0	ZNF496	245559481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.630000	0.37081	2.290000	0.77057	0.561000	0.74099	CGA		PASS	0.582	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		16	60	16	60	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588563	247588563	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:247588563G>A	ENST00000336119.3	+	3	2564	c.1818G>A	c.(1816-1818)ctG>ctA	p.L606L	NLRP3_ENST00000391828.3_Silent_p.L606L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.L606L|NLRP3_ENST00000348069.2_Silent_p.L606L|NLRP3_ENST00000366496.2_Silent_p.L606L|NLRP3_ENST00000366497.2_Silent_p.L606L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	606					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L606L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAATCAGGCTGGAGCTGCTGA	0.458																																						uc001icr.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1816-1818)CTG>CTA		NLR family, pyrin domain containing 3 isoform a							52.0	53.0	52.0					1																	247588563		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588563G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1818G>A	1.37:g.247588563G>A						NLRP3_uc001ics.2_Silent_p.L606L|NLRP3_uc001icu.2_Silent_p.L606L|NLRP3_uc001icw.2_Silent_p.L606L|NLRP3_uc001icv.2_Silent_p.L606L|NLRP3_uc010pyw.1_Silent_p.L604L|NLRP3_uc001ict.1_Silent_p.L604L	p.L606L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1956	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	606					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.1818G>A	CCDS1632.1																																																																																				PASS	0.458	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		17	54	17	54	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614643	247614643	+	Silent	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:247614643G>C	ENST00000318749.6	-	1	665	c.642C>G	c.(640-642)ccC>ccG	p.P214P		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P214P(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGAGAGCCAGGGGCACCAACA	0.577																																						uc010pyx.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(640-642)CCC>CCG		olfactory receptor, family 2, subfamily B,							73.0	74.0	74.0					1																	247614643		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614643G>C		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.642C>G	1.37:g.247614643G>C							p.P214P	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	642	-	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	214			Helical; Name=5; (Potential).		B2RP03	Silent	SNP	ENST00000318749.6	37	c.642C>G	CCDS31090.1																																																																																				PASS	0.577	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		13	25	13	25	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655290	247655290	+	RNA	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:247655290C>A	ENST00000522351.1	+	0	921							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCATCAACCCCCTCATCTAC	0.532																																						uc001icz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(859-861)CCC>CCA		olfactory receptor, family 2, subfamily W,							102.0	95.0	97.0					1																	247655290		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655290C>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655290C>A							p.P287P	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	861	+	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	287					B9EH85	Silent	SNP	ENST00000522351.1	37	c.861C>A																																																																																					PASS	0.532	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		34	63	34	63	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:248059311C>A	ENST00000360358.3	+	1	423	c.423C>A	c.(421-423)tgC>tgA	p.C141*	OR2W3_ENST00000537741.1_Nonsense_Mutation_p.C141*	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627																																						uc001idp.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(1)|breast(1)|pancreas(1)	3						c.(421-423)TGC>TGA		olfactory receptor, family 2, subfamily W,							77.0	61.0	66.0					1																	248059311		2203	4300	6503	SO:0001587	stop_gained	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059311C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.423C>A	1.37:g.248059311C>A	ENSP00000353516:p.Cys141*					OR2W3_uc010pzb.1_Nonsense_Mutation_p.C141*	p.C141*	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	692	+	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)		141			Helical; Name=4; (Potential).		Q6IF06|Q8NG86	Nonsense_Mutation	SNP	ENST00000360358.3	37	c.423C>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469506	0.63625	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	.	.	.	5.28	0.127	0.14727	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5916	0.45312	0.0:0.5875:0.0:0.4125	.	.	.	.	X	141	.	ENSP00000353516:C141X	C	+	3	2	OR2W3	246125934	0.000000	0.05858	0.082000	0.20525	0.041000	0.13682	-0.887000	0.04152	0.096000	0.17463	0.603000	0.83216	TGC		PASS	0.627	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		17	19	17	19	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9475236	9475236	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:9475236G>T	ENST00000281419.3	+	9	1117	c.777G>T	c.(775-777)caG>caT	p.Q259H	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q259H	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	259					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.Q259H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AACAGGCCCAGGATGAAGAAA	0.413																																						uc002qzh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)CAG>CAT		ArfGAP with SH3 domain, ankyrin repeat and PH							81.0	83.0	82.0					2																	9475236		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9475236G>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.777G>T	2.37:g.9475236G>T	ENSP00000281419:p.Gln259His					ASAP2_uc002qzi.2_Missense_Mutation_p.Q259H	p.Q259H	NM_003887	NP_003878	O43150	ASAP2_HUMAN			9	1117	+			259			Potential.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.777G>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641324	0.67244	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04502	3.61;3.61	5.35	3.52	0.40303	.	0.109183	0.64402	D	0.000005	T	0.19366	0.0465	M	0.76838	2.35	0.52099	D	0.999949	B;D	0.67145	0.055;0.996	B;D	0.75484	0.056;0.986	T	0.00660	-1.1622	10	0.72032	D	0.01	.	11.4216	0.49985	0.2015:0.0:0.7985:0.0	.	259;259	O43150-2;O43150	.;ASAP2_HUMAN	H	259	ENSP00000281419:Q259H;ENSP00000316404:Q259H	ENSP00000281419:Q259H	Q	+	3	2	ASAP2	9392687	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.036000	0.41165	1.500000	0.48636	-0.154000	0.13518	CAG		PASS	0.413	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		6	61	6	61	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15770898	15770898	+	Splice_Site	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:15770898A>T	ENST00000381341.2	+	27	2481		c.e27-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGTGTGATGCAGGTGGAAGCT	0.408																																						uc002rce.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.e26-2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							202.0	193.0	196.0					2																	15770898		2203	4300	6503	SO:0001630	splice_region_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770898A>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2093-1A>T	2.37:g.15770898A>T							p.G698_splice	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	26	2381	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)						B4DME8|B4DPN6	Splice_Site	SNP	ENST00000381341.2	37	c.2093_splice	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.893276	0.91889	.	.	ENSG00000079785	ENST00000381341;ENST00000233084	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX1	15688349	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.317000	0.96327	2.371000	0.80710	0.533000	0.62120	.		PASS	0.408	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	Intron	84	88	84	88	---	---	---	---
APOB	338	broad.mit.edu	37	2	21232877	21232877	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:21232877T>A	ENST00000233242.1	-	26	6990	c.6863A>T	c.(6862-6864)cAc>cTc	p.H2288L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2288					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.H2288L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCTCAATGTGTTGTTTTAA	0.348																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6862-6864)CAC>CTC		apolipoprotein B precursor	Atorvastatin(DB01076)						153.0	152.0	152.0					2																	21232877		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232877T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6863A>T	2.37:g.21232877T>A	ENSP00000233242:p.His2288Leu						p.H2288L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6991	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2288					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6863A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	1.949	-0.441594	0.04604	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00675	5.88	5.76	2.03	0.26663	.	0.581002	0.16542	N	0.209916	T	0.00496	0.0016	N	0.08118	0	0.24874	N	0.992264	B	0.02656	0.0	B	0.01281	0.0	T	0.45454	-0.9260	10	0.19147	T	0.46	.	6.3513	0.21377	0.1173:0.1309:0.0:0.7517	.	2288	P04114	APOB_HUMAN	L	2288	ENSP00000233242:H2288L	ENSP00000233242:H2288L	H	-	2	0	APOB	21086382	0.060000	0.20803	0.100000	0.21137	0.051000	0.14879	1.714000	0.37961	0.442000	0.26555	0.459000	0.35465	CAC		PASS	0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			24	126	24	126	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24930637	24930637	+	Silent	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:24930637G>C	ENST00000406961.1	+	13	2950	c.2298G>C	c.(2296-2298)ctG>ctC	p.L766L	NCOA1_ENST00000405141.1_Silent_p.L766L|NCOA1_ENST00000538539.1_Silent_p.L766L|NCOA1_ENST00000348332.3_Silent_p.L766L|NCOA1_ENST00000395856.3_Silent_p.L766L|NCOA1_ENST00000407230.1_Silent_p.L615L|NCOA1_ENST00000288599.5_Silent_p.L766L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	766					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.L766L(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCAAACCTGAGCCTGGATG	0.383			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2296-2298)CTG>CTC		nuclear receptor coactivator 1 isoform 1							66.0	63.0	64.0					2																	24930637		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24930637G>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2298G>C	2.37:g.24930637G>C						NCOA1_uc010eye.2_Silent_p.L766L|NCOA1_uc002rfi.2_Silent_p.L615L|NCOA1_uc002rfj.2_Silent_p.L766L|NCOA1_uc002rfl.2_Silent_p.L766L	p.L766L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	2556	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		766					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.2298G>C	CCDS1712.1																																																																																				PASS	0.383	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		20	32	20	32	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25468908	25468908	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:25468908C>G	ENST00000264709.3	-	12	1792	c.1455G>C	c.(1453-1455)caG>caC	p.Q485H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q296H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q262H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q485H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	485	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.Q296H(1)|p.Q485H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGCACTTCTGCCGCACCT	0.612			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1453-1455)CAG>CAC		DNA cytosine methyltransferase 3 alpha isoform							111.0	87.0	95.0					2																	25468908		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468908C>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1455G>C	2.37:g.25468908C>G	ENSP00000264709:p.Gln485His					DNMT3A_uc002rgd.2_Missense_Mutation_p.Q485H|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Q296H	p.Q485H	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			12	1712	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		485			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1455G>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556807	0.45590	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.55	1.65	0.23941	.	0.062183	0.64402	D	0.000003	T	0.27697	0.0681	L	0.44542	1.39	0.80722	D	1	B;D	0.59767	0.13;0.986	B;B	0.42771	0.015;0.397	T	0.02301	-1.1180	10	0.45353	T	0.12	-10.0876	7.776	0.29037	0.0:0.5517:0.0:0.4483	.	485;296	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	296;485;485;262	ENSP00000370122:Q296H;ENSP00000324375:Q485H;ENSP00000264709:Q485H;ENSP00000384237:Q262H	ENSP00000264709:Q485H	Q	-	3	2	DNMT3A	25322412	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.108000	0.31123	0.019000	0.15079	0.643000	0.83706	CAG		PASS	0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		9	43	9	43	---	---	---	---
MEMO1	51072	broad.mit.edu	37	2	32145975	32145975	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:32145975T>A	ENST00000295065.5	-	4	526	c.217A>T	c.(217-219)Aga>Tga	p.R73*	DPY30_ENST00000446765.1_5'UTR|AL121652.1_ENST00000408399.1_RNA|MEMO1_ENST00000426310.2_Nonsense_Mutation_p.R50*|MEMO1_ENST00000404530.1_Nonsense_Mutation_p.R73*|MEMO1_ENST00000379383.3_Nonsense_Mutation_p.R76*|MEMO1_ENST00000490459.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	73					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R73*(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ATGAAAATTCTCCGGCTAGGA	0.378																																						uc002rnx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(217-219)AGA>TGA		mediator of cell motility 1 isoform 1							75.0	78.0	77.0					2																	32145975		2203	4300	6503	SO:0001587	stop_gained	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32145975T>A	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.217A>T	2.37:g.32145975T>A	ENSP00000295065:p.Arg73*					MEMO1_uc010ymu.1_Nonsense_Mutation_p.R50*|MEMO1_uc010ezq.2_Nonsense_Mutation_p.R73*|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA|MEMO1_uc010ymv.1_RNA	p.R73*	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN			4	599	-	Acute lymphoblastic leukemia(172;0.155)		73					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Nonsense_Mutation	SNP	ENST00000295065.5	37	c.217A>T	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	39	7.599785	0.98381	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.95	5.95	0.96441	.	0.042702	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5717	12.5956	0.56468	0.0:0.0:0.1383:0.8617	.	.	.	.	X	73;76;73;50	.	ENSP00000295065:R73X	R	-	1	2	MEMO1	31999479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	2.279000	0.76181	0.533000	0.62120	AGA		PASS	0.378	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		22	35	22	35	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39509664	39509664	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:39509664G>T	ENST00000263881.3	-	22	1943	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MAP4K3_ENST00000341681.5_Missense_Mutation_p.P519H|MAP4K3_ENST00000536018.1_Missense_Mutation_p.P93H|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P456H|SNORA67_ENST00000516664.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	540					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P540H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATGCACTTTAGGTGTTGGAGG	0.323																																						uc002rro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1618-1620)CCT>CAT		mitogen-activated protein kinase kinase kinase							161.0	156.0	157.0					2																	39509664		2203	4299	6502	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39509664G>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1619C>A	2.37:g.39509664G>T	ENSP00000263881:p.Pro540His					MAP4K3_uc002rrp.2_Missense_Mutation_p.P519H|MAP4K3_uc010yns.1_Missense_Mutation_p.P93H	p.P540H	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			22	1710	-		all_hematologic(82;0.211)	540					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1619C>A	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454405	0.84209	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.77489	-1.1;-0.89;-1.05;1.83	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90825	0.4712	10	0.87932	D	0	.	18.785	0.91951	0.0:0.0:1.0:0.0	.	519;540	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	H	540;456;519;93	ENSP00000263881:P540H;ENSP00000416958:P456H;ENSP00000345434:P519H;ENSP00000440580:P93H	ENSP00000263881:P540H	P	-	2	0	MAP4K3	39363168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.185000	0.94900	2.423000	0.82170	0.655000	0.94253	CCT		PASS	0.323	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		5	43	5	43	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48027425	48027425	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:48027425C>A	ENST00000234420.5	+	4	2455	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	MSH6_ENST00000538136.1_Missense_Mutation_p.P466H|MSH6_ENST00000540021.1_Missense_Mutation_p.P638H|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	768					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.P768H(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCCATACTCCTTTTGGTAAG	0.423			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(2302-2304)CCT>CAT	MMR	mutS homolog 6							171.0	168.0	169.0					2																	48027425		2203	4300	6503	SO:0001583	missense	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027425C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2303C>A	2.37:g.48027425C>A	ENSP00000234420:p.Pro768His					MSH6_uc002rwc.2_Missense_Mutation_p.P768H|MSH6_uc010fbj.2_Missense_Mutation_p.P466H|MSH6_uc010yoi.1_Missense_Mutation_p.P638H|MSH6_uc010yoj.1_Missense_Mutation_p.P466H	p.P768H	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2455	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	768					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2303C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685516	0.47991	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.91792	-2.91;-2.91;-2.91	5.54	4.66	0.58398	DNA mismatch repair protein MutS, core (3);	0.208648	0.51477	D	0.000090	D	0.95642	0.8583	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.985	D	0.95974	0.8972	10	0.87932	D	0	-8.5114	14.2349	0.65919	0.0:0.9281:0.0:0.0719	.	638;768;768	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	H	768;766;638;466	ENSP00000234420:P768H;ENSP00000446475:P638H;ENSP00000438580:P466H	ENSP00000234420:P768H	P	+	2	0	MSH6	47880929	0.999000	0.42202	0.970000	0.41538	0.800000	0.45204	4.867000	0.63013	1.342000	0.45619	0.460000	0.39030	CCT		PASS	0.423	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		10	248	10	248	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48040932	48040932	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:48040932G>A	ENST00000403359.3	-	17	2153	c.2081C>T	c.(2080-2082)tCt>tTt	p.S694F	FBXO11_ENST00000402508.1_Missense_Mutation_p.S610F|FBXO11_ENST00000316377.4_Missense_Mutation_p.S610F|FBXO11_ENST00000434523.2_Missense_Mutation_p.S118F	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	694					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.S610F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAACATACCAGAATTATAAAC	0.403			"""Mis, F, D"""		DLBCL																																	uc010fbl.2				Rec	yes		2	2p16.3	80204		F-box protein 11			L					3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	ovary(1)|lung(1)	2						c.(1828-1830)TCT>TTT		F-box only protein 11 isoform 1							101.0	100.0	101.0					2																	48040932		2202	4300	6502	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48040932G>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2081C>T	2.37:g.48040932G>A	ENSP00000384823:p.Ser694Phe					FBXO11_uc002rwe.2_Missense_Mutation_p.S610F|FBXO11_uc002rwf.2_Missense_Mutation_p.S610F|FBXO11_uc010fbk.2_Missense_Mutation_p.S118F	p.S610F	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		17	1943	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	694			PbH1 14.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.1829C>T	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699117	0.88830	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	D;D;D;T	0.81996	-1.56;-1.56;-1.56;0.73	5.43	5.43	0.79202	Pectin lyase fold/virulence factor (2);F-box domain, Skp2-like (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.987	D;D	0.71184	0.972;0.957	D	0.90464	0.4448	10	0.72032	D	0.01	-16.5818	19.5994	0.95554	0.0:0.0:1.0:0.0	.	118;694	B3KUR1;Q86XK2	.;FBX11_HUMAN	F	610;694;610;118	ENSP00000385398:S610F;ENSP00000384823:S694F;ENSP00000323822:S610F;ENSP00000397359:S118F	ENSP00000323822:S610F	S	-	2	0	FBXO11	47894436	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.813000	0.99286	2.699000	0.92147	0.655000	0.94253	TCT		PASS	0.403	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		18	33	18	33	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49191003	49191003	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:49191003C>T	ENST00000406846.2	-	10	1076	c.957G>A	c.(955-957)gaG>gaA	p.E319E	FSHR_ENST00000346173.3_Silent_p.E257E|FSHR_ENST00000304421.4_Silent_p.E293E|FSHR_ENST00000541117.1_Silent_p.E55E	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	319					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.E319E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGTAGCTGGACTCATTGTCTT	0.443									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(955-957)GAG>GAA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						264.0	233.0	244.0					2																	49191003		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49191003C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.957G>A	2.37:g.49191003C>T						FSHR_uc002rwx.2_Silent_p.E257E|FSHR_uc010fbn.2_Silent_p.E293E	p.E319E	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1031	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	319			Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.957G>A	CCDS1843.1																																																																																				PASS	0.443	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			113	117	113	117	---	---	---	---
CHAC2	494143	broad.mit.edu	37	2	54001477	54001477	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:54001477C>A	ENST00000295304.4	+	3	465	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	124								p.L124M(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCTGCACCTCTGGAAGACAT	0.358																																						uc002rxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CTG>ATG		ChaC, cation transport regulator-like 2							125.0	122.0	123.0					2																	54001477		2203	4300	6503	SO:0001583	missense	494143							g.chr2:54001477C>A	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.370C>A	2.37:g.54001477C>A	ENSP00000295304:p.Leu124Met					ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	p.L124M	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		3	465	+			124					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.370C>A	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593058	0.66219	.	.	ENSG00000143942	ENST00000295304	T	0.51071	0.72	5.92	5.92	0.95590	Butirosin biosynthesis, BtrG-like (1);	0.065819	0.64402	D	0.000007	T	0.58609	0.2134	M	0.74647	2.275	0.52099	D	0.999949	P	0.43633	0.813	P	0.48952	0.596	T	0.59920	-0.7363	10	0.51188	T	0.08	-7.4665	13.4996	0.61447	0.0:0.9289:0.0:0.0711	.	124	Q8WUX2	CHAC2_HUMAN	M	124	ENSP00000295304:L124M	ENSP00000295304:L124M	L	+	1	2	CHAC2	53854981	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	2.534000	0.45676	2.795000	0.96236	0.655000	0.94253	CTG		PASS	0.358	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		6	110	6	110	---	---	---	---
CLHC1	130162	broad.mit.edu	37	2	55449476	55449476	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:55449476C>A	ENST00000401408.1	-	3	417	c.72G>T	c.(70-72)ttG>ttT	p.L24F	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.L24F	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	24								p.L24F(2)									GCACACTTTCCAAAAATTCCT	0.363																																						uc002ryi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(70-72)TTG>TTT		hypothetical protein LOC130162 isoform 1							190.0	188.0	189.0					2																	55449476		2202	4300	6502	SO:0001583	missense	130162						binding	g.chr2:55449476C>A		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.72G>T	2.37:g.55449476C>A	ENSP00000384869:p.Leu24Phe					C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Intron	p.L24F	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		3	418	-			24					B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.72G>T	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297382	0.81025	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000451916;ENST00000403506	T;T	0.36699	1.24;1.24	5.58	5.58	0.84498	.	0.089022	0.46758	D	0.000277	T	0.60715	0.2290	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63283	-0.6672	10	0.87932	D	0	-7.9472	16.4613	0.84055	0.0:1.0:0.0:0.0	.	24	Q8NHS4	CB063_HUMAN	F	24	ENSP00000385778:L24F;ENSP00000384869:L24F	ENSP00000384869:L24F	L	-	3	2	C2orf63	55302980	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.576000	0.46033	2.607000	0.88179	0.561000	0.74099	TTG		PASS	0.363	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		6	99	6	99	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61475683	61475683	+	Silent	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:61475683T>A	ENST00000398571.2	-	49	6433	c.6357A>T	c.(6355-6357)acA>acT	p.T2119T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2119	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T2119T(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAAAATCTTCTGTATAGGGCG	0.358																																						uc002sbe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(6355-6357)ACA>ACT		ubiquitin specific protease 34							100.0	96.0	97.0					2																	61475683		1856	4104	5960	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61475683T>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6357A>T	2.37:g.61475683T>A						USP34_uc002sbf.2_Silent_p.T269T	p.T2119T	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		49	6379	-			2119					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.6357A>T	CCDS42686.1																																																																																				PASS	0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			19	33	19	33	---	---	---	---
PPP3R1	5534	broad.mit.edu	37	2	68415796	68415796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:68415796C>A	ENST00000234310.3	-	3	473	c.70G>T	c.(70-72)Gga>Tga	p.G24*	PPP3R1_ENST00000409377.1_Nonsense_Mutation_p.G14*|RP11-474G23.1_ENST00000406334.3_Nonsense_Mutation_p.G14*|PPP3R1_ENST00000409752.1_Nonsense_Mutation_p.G43*	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	24	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)	p.G24*(1)		large_intestine(1)	1						AATCTCTTTCCTAGCCTTTTA	0.368																																						uc002sei.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(70-72)GGA>TGA		protein phosphatase 3, regulatory subunit B,	Pimecrolimus(DB00337)						49.0	46.0	47.0					2																	68415796		1808	4073	5881	SO:0001587	stop_gained	5534				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	g.chr2:68415796C>A	M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.70G>T	2.37:g.68415796C>A	ENSP00000234310:p.Gly24*						p.G24*	NM_000945	NP_000936	P63098	CANB1_HUMAN			3	462	-			24			EF-hand 1.		B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Nonsense_Mutation	SNP	ENST00000234310.3	37	c.70G>T	CCDS46310.1	.	.	.	.	.	.	.	.	.	.	C	38	6.784840	0.97837	.	.	ENSG00000221823	ENST00000234310;ENST00000409752;ENST00000409377	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	.	.	.	X	24;43;14	.	ENSP00000234310:G24X	G	-	1	0	PPP3R1	68269300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.738000	0.84966	2.814000	0.96858	0.655000	0.94253	GGA		PASS	0.368	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326765.4	NM_000945		5	53	5	53	---	---	---	---
GKN2	200504	broad.mit.edu	37	2	69173541	69173541	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:69173541G>T	ENST00000328895.4	-	5	475	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	GKN2_ENST00000481498.1_Missense_Mutation_p.L123M	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	123	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)		p.L123M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGAGACTCCAGAGGGTTGTAC	0.413																																						uc002sfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CTG>ATG		trefoil factor interactions(z) 1 precursor							189.0	177.0	181.0					2																	69173541		2203	4300	6503	SO:0001583	missense	200504					extracellular region		g.chr2:69173541G>T	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.367C>A	2.37:g.69173541G>T	ENSP00000329292:p.Leu123Met					GKN2_uc002sfb.3_Missense_Mutation_p.L123M	p.L123M	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN			5	476	-			123			BRICHOS.		Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	c.367C>A	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086760	0.20390	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.80033	-1.33;-1.33	4.73	2.74	0.32292	BRICHOS (2);	0.830132	0.10462	N	0.671872	D	0.85767	0.5773	M	0.71581	2.175	0.09310	N	1	D;D	0.62365	0.984;0.991	P;P	0.62740	0.896;0.906	T	0.71974	-0.4430	10	0.44086	T	0.13	-18.1612	6.9198	0.24380	0.0:0.1812:0.6041:0.2147	.	123;123	E5RHQ8;Q86XP6	.;GKN2_HUMAN	M	123	ENSP00000329292:L123M;ENSP00000428538:L123M	ENSP00000329292:L123M	L	-	1	2	GKN2	69027045	0.070000	0.21116	0.525000	0.27900	0.214000	0.24535	1.398000	0.34554	1.197000	0.43143	-0.314000	0.08810	CTG		PASS	0.413	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		7	179	7	179	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71709007	71709007	+	Splice_Site	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:71709007A>T	ENST00000258104.3	+	3	421		c.e3-1		DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000409366.1_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.?(2)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTTTCTTCCAGGGATTTGAA	0.522																																						uc002sie.2																			2	Unknown(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.e3-2		dysferlin isoform 8							61.0	61.0	61.0					2																	71709007		2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71709007A>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.145-1A>T	2.37:g.71709007A>T						DYSF_uc010feg.2_Splice_Site_p.G49_splice|DYSF_uc010feh.2_Splice_Site_p.G49_splice|DYSF_uc002sig.3_Splice_Site_p.G49_splice|DYSF_uc010yqx.1_Splice_Site|DYSF_uc010fee.2_Splice_Site_p.G49_splice|DYSF_uc010fef.2_Splice_Site_p.G49_splice|DYSF_uc010fei.2_Splice_Site_p.G49_splice|DYSF_uc010fek.2_Splice_Site_p.G50_splice|DYSF_uc010fej.2_Splice_Site_p.G50_splice|DYSF_uc010fel.2_Splice_Site_p.G50_splice|DYSF_uc010feo.2_Splice_Site_p.G50_splice|DYSF_uc010fem.2_Splice_Site_p.G50_splice|DYSF_uc010fen.2_Splice_Site_p.G50_splice|DYSF_uc002sif.2_Splice_Site_p.G50_splice	p.G49_splice	NM_003494	NP_003485	O75923	DYSF_HUMAN			3	521	+								A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37	c.145_splice	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050655	0.75960	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7528	0.57318	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYSF	71562515	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.733000	0.84916	1.974000	0.57490	0.460000	0.39030	.		PASS	0.522	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Intron	7	18	7	18	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74275351	74275351	+	Silent	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:74275351A>T	ENST00000409262.3	+	1	1902	c.1902A>T	c.(1900-1902)tcA>tcT	p.S634S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	634					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.S634S(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGTGCTCTCAACCACCTGCT	0.577																																						uc002skb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1900-1902)TCA>TCT		tet oncogene family member 3							40.0	50.0	47.0					2																	74275351		1999	4181	6180	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74275351A>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1902A>T	2.37:g.74275351A>T						TET3_uc010fez.1_Silent_p.S634S	p.S634S	NM_144993	NP_659430	O43151	TET3_HUMAN			1	1902	+			634					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.1902A>T	CCDS46339.1																																																																																				PASS	0.577	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			4	22	4	22	---	---	---	---
IGKV1D-43	28891	broad.mit.edu	37	2	90249397	90249397	+	RNA	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:90249397C>G	ENST00000468879.1	+	0	532									immunoglobulin kappa variable 1D-43																		AGTACCCCTCCCACAGTGTTA	0.517																																						uc010fhm.2																			0											c.e28+1		Parts of antibodies, mostly variable regions.							136.0	120.0	125.0					2																	90249397		1871	4109	5980			0							g.chr2:90249397C>G	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249397C>G														28		+									Splice_Site	SNP	ENST00000468879.1	37	c.3939_splice																																																																																					PASS	0.517	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		34	106	34	106	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95542369	95542369	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:95542369A>G	ENST00000295201.4	+	6	1300	c.1163A>G	c.(1162-1164)cAg>cGg	p.Q388R	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	388					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.Q388R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GAAGCGGAGCAGTCCCTGCGC	0.597																																						uc002stw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1162-1164)CAG>CGG		tektin 4							69.0	54.0	59.0					2																	95542369		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95542369A>G	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1163A>G	2.37:g.95542369A>G	ENSP00000295201:p.Gln388Arg					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.Q388R	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			6	1256	+			388			Potential.			Missense_Mutation	SNP	ENST00000295201.4	37	c.1163A>G	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	9.044	0.990370	0.18966	.	.	ENSG00000163060	ENST00000295201	T	0.02345	4.33	2.43	2.43	0.29744	.	0.516357	0.20928	N	0.083144	T	0.02767	0.0083	L	0.35854	1.095	0.80722	D	1	B	0.24043	0.096	B	0.29440	0.102	T	0.49890	-0.8891	10	0.16420	T	0.52	-24.4862	8.354	0.32318	1.0:0.0:0.0:0.0	.	388	Q8WW24	TEKT4_HUMAN	R	388	ENSP00000295201:Q388R	ENSP00000295201:Q388R	Q	+	2	0	TEKT4	94906096	0.307000	0.24500	0.988000	0.46212	0.557000	0.35523	1.329000	0.33770	0.866000	0.35629	0.234000	0.17832	CAG		PASS	0.597	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		9	16	9	16	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109365585	109365585	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:109365585G>T	ENST00000283195.6	+	9	1399	c.1273G>T	c.(1273-1275)Ggt>Tgt	p.G425C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	425					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G425C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATACGATGTTGGTAAGTTATA	0.343																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(1273-1275)GGT>TGT		RAN binding protein 2							134.0	142.0	139.0					2																	109365585		2203	4300	6503	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365585G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1273+1G>T	2.37:g.109365585G>T							p.G425C	NM_006267	NP_006258	P49792	RBP2_HUMAN			9	1399	+			425					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1273G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760250	0.69763	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.84516	-1.86	5.4	5.4	0.78164	.	.	.	.	.	D	0.91683	0.7371	M	0.62723	1.935	0.47214	D	0.999351	D	0.89917	1.0	D	0.97110	1.0	D	0.91956	0.5575	9	0.72032	D	0.01	-26.4724	19.5298	0.95223	0.0:0.0:1.0:0.0	.	425	P49792	RBP2_HUMAN	C	425	ENSP00000283195:G425C	ENSP00000283195:G425C	G	+	1	0	RANBP2	108732017	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.505000	0.81655	2.678000	0.91216	0.557000	0.71058	GGT		PASS	0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Missense_Mutation	7	166	7	166	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113514469	113514469	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:113514469C>A	ENST00000302450.6	-	4	557	c.479G>T	c.(478-480)gGt>gTt	p.G160V	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	160						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.G160V(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TATACATTTACCATTTCCTTG	0.343																																						uc002tie.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GGT>GTT		cytoskeleton associated protein 2-like							74.0	78.0	77.0					2																	113514469		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514469C>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.479G>T	2.37:g.113514469C>A	ENSP00000305204:p.Gly160Val					CKAP2L_uc002tif.2_Splice_Site_p.M1_splice|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	p.G160V	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	558	-			160					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.479G>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.147603	0.01714	.	.	ENSG00000169607	ENST00000302450	T	0.06687	3.27	4.9	2.86	0.33363	.	0.408701	0.21545	N	0.072829	T	0.03959	0.0111	N	0.08118	0	0.18873	N	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	10	0.41790	T	0.15	-2.1873	5.5975	0.17334	0.1999:0.1587:0.6413:0.0	.	160	Q8IYA6	CKP2L_HUMAN	V	160	ENSP00000305204:G160V	ENSP00000305204:G160V	G	-	2	0	CKAP2L	113230940	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	0.161000	0.16481	0.236000	0.21180	-0.195000	0.12781	GGT		PASS	0.343	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		10	40	10	40	---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118579815	118579815	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:118579815G>C	ENST00000263239.2	+	7	1172	c.1044G>C	c.(1042-1044)aaG>aaC	p.K348N	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	348	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.K348N(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGAATTAAAGCAAATTATTA	0.358																																						uc002tlh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(1042-1044)AAG>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							80.0	78.0	79.0					2																	118579815		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118579815G>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1044G>C	2.37:g.118579815G>C	ENSP00000263239:p.Lys348Asn						p.K348N	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			7	1143	+			348			Helicase ATP-binding.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1044G>C	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548242	0.27652	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.14266	2.52;2.52	5.0	2.2	0.27929	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	N	0.22421	0.69	0.80722	D	1	P	0.40332	0.713	B	0.41236	0.351	T	0.34551	-0.9824	10	0.19590	T	0.45	-33.1999	7.5287	0.27671	0.3638:0.0:0.6362:0.0	.	348	Q9NVP1	DDX18_HUMAN	N	348;87;31	ENSP00000263239:K348N;ENSP00000415604:K31N	ENSP00000263239:K348N	K	+	3	2	DDX18	118296285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.218000	0.32467	0.804000	0.34136	0.650000	0.86243	AAG		PASS	0.358	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		10	37	10	37	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	135965099	135965099	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:135965099C>A	ENST00000264159.6	-	19	3030	c.2914G>T	c.(2914-2916)Gca>Tca	p.A972S	ZRANB3_ENST00000536680.1_Missense_Mutation_p.A970S|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.A970S	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	972					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.A972S(1)|p.A435S(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTTCTTGTGCGTTCACATTA	0.413																																						uc002tum.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(2914-2916)GCA>TCA		zinc finger, RAN-binding domain containing 3							220.0	206.0	211.0					2																	135965099		1920	4132	6052	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965099C>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2914G>T	2.37:g.135965099C>A	ENSP00000264159:p.Ala972Ser					ZRANB3_uc002tuk.2_Missense_Mutation_p.A515S|ZRANB3_uc002tul.2_Missense_Mutation_p.A970S	p.A972S	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	3031	-			972					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2914G>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381299	0.95945	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.92199	-2.99;-2.98;-2.97	5.81	5.81	0.92471	.	0.056387	0.64402	D	0.000001	D	0.96225	0.8769	M	0.79475	2.455	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.76071	0.971;0.987	D	0.95964	0.8964	10	0.66056	D	0.02	-11.661	20.0782	0.97758	0.0:1.0:0.0:0.0	.	972;970	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	S	435;435;970;972;970	ENSP00000383979:A970S;ENSP00000264159:A972S;ENSP00000441320:A970S	ENSP00000264159:A972S	A	-	1	0	ZRANB3	135681569	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.959000	0.76031	2.746000	0.94184	0.655000	0.94253	GCA		PASS	0.413	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		5	138	5	138	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141359117	141359117	+	Silent	SNP	A	A	T	rs372628878		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:141359117A>T	ENST00000389484.3	-	42	7862	c.6891T>A	c.(6889-6891)acT>acA	p.T2297T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2297					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T2297T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGGTCCACAGTGTGTCTGG	0.512										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6889-6891)ACT>ACA		low density lipoprotein-related protein 1B							149.0	123.0	132.0					2																	141359117		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359117A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6891T>A	2.37:g.141359117A>T		TSP Lung(27;0.18)					p.T2297T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	42	7863	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2297			Extracellular (Potential).|LDL-receptor class B 24.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.6891T>A	CCDS2182.1																																																																																				PASS	0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	17	6	17	---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143798134	143798134	+	Silent	SNP	G	G	T	rs145299669		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:143798134G>T	ENST00000264170.4	+	13	1437	c.1179G>T	c.(1177-1179)ccG>ccT	p.P393P	KYNU_ENST00000409512.1_Silent_p.P393P	NM_003937.2	NP_003928.1			kynureninase									p.P393P(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TAATTACTCCGTCTCATGTAG	0.393																																						uc002tvl.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1177-1179)CCG>CCT		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						78.0	72.0	74.0					2																	143798134		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143798134G>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1179G>T	2.37:g.143798134G>T						KYNU_uc010fnm.2_Silent_p.P393P	p.P393P	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1309	+			393						Silent	SNP	ENST00000264170.4	37	c.1179G>T	CCDS2183.1																																																																																				PASS	0.393	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		9	27	9	27	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144244987	144244987	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:144244987G>T	ENST00000295095.6	+	9	916	c.749G>T	c.(748-750)cGa>cTa	p.R250L	RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	250					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)	p.R250L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GACAAAAATCGAGTTAAAAGC	0.338																																						uc002tvm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(748-750)CGA>CTA		ARHGAP15							96.0	104.0	102.0					2																	144244987		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144244987G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.749G>T	2.37:g.144244987G>T	ENSP00000295095:p.Arg250Leu					ARHGAP15_uc002tvn.2_Missense_Mutation_p.R16L	p.R250L	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	9	900	+			250					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.749G>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293691	0.80914	.	.	ENSG00000075884	ENST00000295095	T	0.09163	3.01	5.27	5.27	0.74061	.	0.155080	0.44285	D	0.000466	T	0.28466	0.0704	M	0.68317	2.08	0.48511	D	0.999666	P	0.45634	0.863	P	0.56042	0.79	T	0.00581	-1.1660	10	0.72032	D	0.01	.	17.078	0.86591	0.0:0.0:1.0:0.0	.	250	Q53QZ3	RHG15_HUMAN	L	250	ENSP00000295095:R250L	ENSP00000295095:R250L	R	+	2	0	ARHGAP15	143961457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.826000	0.92034	2.451000	0.82905	0.655000	0.94253	CGA		PASS	0.338	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		4	63	4	63	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152512796	152512796	+	Silent	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:152512796G>C	ENST00000172853.10	-	49	6513	c.6366C>G	c.(6364-6366)gtC>gtG	p.V2122V	NEB_ENST00000604864.1_Silent_p.V2122V|NEB_ENST00000409198.1_Silent_p.V2122V|NEB_ENST00000427231.2_Silent_p.V2122V|NEB_ENST00000603639.1_Silent_p.V2122V|NEB_ENST00000397345.3_Silent_p.V2122V			P20929	NEBU_HUMAN	nebulin	2122					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V2122V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGCAGCCGTGACACTGAGCA	0.473																																						uc010fnx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(6364-6366)GTC>GTG		nebulin isoform 3							293.0	293.0	293.0					2																	152512796		2125	4248	6373	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512796G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6366C>G	2.37:g.152512796G>C							p.V2122V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	49	6557	-			2122			Nebulin 56.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.6366C>G																																																																																					PASS	0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		41	86	41	86	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166802149	166802149	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:166802149C>A	ENST00000243344.7	-	4	451	c.314G>T	c.(313-315)gGa>gTa	p.G105V	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	105					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.G105V(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCTCCAGCTCCTTTACGTTG	0.368																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(313-315)GGA>GTA		tetratricopeptide repeat domain 21B							111.0	109.0	110.0					2																	166802149		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166802149C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.314G>T	2.37:g.166802149C>A	ENSP00000243344:p.Gly105Val					TTC21B_uc002udl.2_Missense_Mutation_p.G105V|uc002udm.1_Intron	p.G105V	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			4	447	-			105					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.314G>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007372	0.35415	.	.	ENSG00000123607	ENST00000243344	T	0.57752	0.38	5.48	0.557	0.17260	Tetratricopeptide-like helical (1);	0.339699	0.31872	N	0.006937	T	0.27419	0.0673	N	0.25647	0.755	0.80722	D	1	P;B	0.35745	0.518;0.259	B;B	0.30572	0.117;0.034	T	0.03335	-1.1047	10	0.30078	T	0.28	-4.4031	1.6609	0.02792	0.2165:0.2841:0.3623:0.1372	.	105;105	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	V	105	ENSP00000243344:G105V	ENSP00000243344:G105V	G	-	2	0	TTC21B	166510395	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	2.110000	0.41873	0.078000	0.16900	0.591000	0.81541	GGA		PASS	0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		13	26	13	26	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170127413	170127413	+	Splice_Site	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:170127413C>A	ENST00000263816.3	-	16	2606		c.e16+1		LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						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.?(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)"""	ACCTTTCTCACCTGTGCCATC	0.348																																						uc002ues.2																			1	Unknown(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.e16+1		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						82.0	82.0	82.0					2																	170127413		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:170127413C>A		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.2320+1G>T	2.37:g.170127413C>A						LRP2_uc010zdf.1_Intron	p.G774_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2533	-								O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	c.2320_splice	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134304	0.77662	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169835659	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.703000	0.84585	2.885000	0.99019	0.655000	0.94253	.		PASS	0.348	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron	4	24	4	24	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178592803	178592803	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:178592803C>A	ENST00000286063.6	-	11	2203	c.1886G>T	c.(1885-1887)cGg>cTg	p.R629L	PDE11A_ENST00000449286.2_Missense_Mutation_p.R271L|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379L|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185L|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271L	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	629					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.R629L(1)|p.R379L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CATGAACATCCGGAGAGCAGC	0.463									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1885-1887)CGG>CTG		phosphodiesterase 11A isoform 4							90.0	86.0	88.0					2																	178592803		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178592803C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1886G>T	2.37:g.178592803C>A	ENSP00000286063:p.Arg629Leu					PDE11A_uc002ulp.2_Missense_Mutation_p.R185L|PDE11A_uc002ulr.2_Missense_Mutation_p.R379L|PDE11A_uc002uls.1_Missense_Mutation_p.R271L|PDE11A_uc002ult.1_Missense_Mutation_p.R379L|PDE11A_uc002ulu.1_Missense_Mutation_p.R271L	p.R629L	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		11	2204	-			629					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1886G>T	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.161925|5.161925	0.94727|0.94727	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T	.|0.76186	.|-1.0;-1.0;-1.0;-1.0;-1.0	5.54|5.54	5.54|5.54	0.83059|0.83059	.|5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.84320	.|0.5446	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.993	.|P;P	.|0.61132	.|0.878;0.884	.|D	.|0.85616	.|0.1261	.|10	.|0.87932	.|D	.|0	.|.	19.4885|19.4885	0.95040|0.95040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379;629	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	X|L	237|629;379;271;185;271	.|ENSP00000286063:R629L;ENSP00000351232:R379L;ENSP00000386539:R271L;ENSP00000374333:R185L;ENSP00000390599:R271L	.|ENSP00000286063:R629L	G|R	-|-	1|2	0|0	PDE11A|PDE11A	178301049|178301049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.814000|7.814000	0.86154|0.86154	2.609000|2.609000	0.88269|0.88269	0.563000|0.563000	0.77884|0.77884	GGA|CGG		PASS	0.463	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			69	38	69	38	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178988945	178988945	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:178988945C>A	ENST00000286070.5	+	8	1252	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	389					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P387H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCTGAAACTCCTGTGAAAGAA	0.343																																						uc002ulv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)CCT>CAT		RNA binding motif protein 45							65.0	72.0	70.0					2																	178988945		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988945C>A	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1160C>A	2.37:g.178988945C>A	ENSP00000286070:p.Pro387His						p.P387H	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1252	+			389					Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.1160C>A	CCDS33335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.73|15.73	2.920528|2.920528	0.52653|0.52653	.|.	.|.	ENSG00000155636|ENSG00000155636	ENST00000455903|ENST00000286070	.|T	.|0.06449	.|3.3	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.608574	.|0.18702	.|N	.|0.133546	T|T	0.06826|0.06826	0.0174|0.0174	N|N	0.14661|0.14661	0.345|0.345	0.31470|0.31470	N|N	0.668526|0.668526	.|P	.|0.44946	.|0.846	.|P	.|0.44946	.|0.465	T|T	0.03662|0.03662	-1.1015|-1.1015	5|10	.|0.87932	.|D	.|0	-1.5536|-1.5536	14.1354|14.1354	0.65284|0.65284	0.1498:0.8502:0.0:0.0|0.1498:0.8502:0.0:0.0	.|.	.|387	.|Q8IUH3-3	.|.	M|H	48|387	.|ENSP00000286070:P387H	.|ENSP00000286070:P387H	L|P	+|+	1|2	2|0	RBM45|RBM45	178697191|178697191	0.920000|0.920000	0.31207|0.31207	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.770000|2.770000	0.47662|0.47662	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	CTG|CCT		PASS	0.343	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		6	161	6	161	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399281	179399281	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179399281G>T	ENST00000591111.1	-	308	97362	c.97138C>A	c.(97138-97140)Caa>Aaa	p.Q32380K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q25148K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q24956K|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q34021K|TTN_ENST00000342992.6_Missense_Mutation_p.Q31453K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q25081K			Q8WZ42	TITIN_HUMAN	titin	32380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q25148K(1)|p.Q31451K(1)|p.Q24956K(1)|p.Q25081K(1)|p.Q31453K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATCTGTTGGTTAGTTTCA	0.418																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94357-94359)CAA>AAA		titin isoform N2-A							129.0	125.0	127.0					2																	179399281		1971	4173	6144	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399281G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97138C>A	2.37:g.179399281G>T	ENSP00000465570:p.Gln32380Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q25148K|TTN_uc010zfi.1_Missense_Mutation_p.Q25081K|TTN_uc010zfj.1_Missense_Mutation_p.Q24956K	p.Q31453K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94581	-			32380					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94357C>A		.	.	.	.	.	.	.	.	.	.	G	11.29	1.596217	0.28445	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.50326	0.1609	N	0.21142	0.635	0.48901	D	0.999723	P;P;P;P	0.48089	0.49;0.49;0.49;0.905	B;B;B;B	0.37346	0.103;0.103;0.103;0.247	T	0.58713	-0.7588	9	0.87932	D	0	.	19.3087	0.94175	0.0:0.0:1.0:0.0	.	24956;25081;25148;32380	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31453;24956;25148;25081;24953	ENSP00000343764:Q31453K;ENSP00000434586:Q24956K;ENSP00000340554:Q25148K;ENSP00000352154:Q25081K	ENSP00000340554:Q25148K	Q	-	1	0	TTN	179107527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.317000	0.65822	2.857000	0.98124	0.650000	0.86243	CAA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	172	7	172	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179468828	179468828	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179468828A>G	ENST00000591111.1	-	232	49887	c.49663T>C	c.(49663-49665)Tct>Cct	p.S16555P	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9323P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9131P|TTN_ENST00000589042.1_Missense_Mutation_p.S18196P|TTN_ENST00000342992.6_Missense_Mutation_p.S15628P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9256P			Q8WZ42	TITIN_HUMAN	titin	16555	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S15628P(2)|p.S9131P(1)|p.S9323P(1)|p.S9256P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATTGGAGAGCCACCATTG	0.493																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46882-46884)TCT>CCT		titin isoform N2-A							185.0	185.0	185.0					2																	179468828		1910	4135	6045	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468828A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49663T>C	2.37:g.179468828A>G	ENSP00000465570:p.Ser16555Pro					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9323P|TTN_uc010zfi.1_Missense_Mutation_p.S9256P|TTN_uc010zfj.1_Missense_Mutation_p.S9131P	p.S15628P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	47106	-			16555					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46882T>C		.	.	.	.	.	.	.	.	.	.	A	11.16	1.556443	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	6.16	5.0	0.66597	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79587	0.4471	H	0.96916	3.905	0.49483	D	0.999795	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	P;P;P;P	0.59424	0.857;0.857;0.857;0.812	T	0.82954	-0.0201	9	0.87932	D	0	.	8.2881	0.31941	0.6368:0.2364:0.0:0.1268	.	9131;9256;9323;16555	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	15628;9131;9323;9256;9131	ENSP00000343764:S15628P;ENSP00000434586:S9131P;ENSP00000340554:S9323P;ENSP00000352154:S9256P	ENSP00000340554:S9323P	S	-	1	0	TTN	179177073	0.989000	0.36119	0.998000	0.56505	0.985000	0.73830	2.657000	0.46724	1.129000	0.42072	-0.323000	0.08544	TCT		PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	180	15	180	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179469536	179469536	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179469536C>A	ENST00000591111.1	-	231	49581	c.49357G>T	c.(49357-49359)Ggc>Tgc	p.G16453C	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9221C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9029C|TTN_ENST00000589042.1_Missense_Mutation_p.G18094C|TTN_ENST00000342992.6_Missense_Mutation_p.G15526C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9154C			Q8WZ42	TITIN_HUMAN	titin	16453	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G15526C(2)|p.G9154C(1)|p.G9029C(1)|p.G9221C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCACTGCCACCATTATCA	0.443																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46576-46578)GGC>TGC		titin isoform N2-A							135.0	124.0	127.0					2																	179469536		1911	4137	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469536C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49357G>T	2.37:g.179469536C>A	ENSP00000465570:p.Gly16453Cys					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9221C|TTN_uc010zfi.1_Missense_Mutation_p.G9154C|TTN_uc010zfj.1_Missense_Mutation_p.G9029C	p.G15526C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		230	46800	-			16453					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46576G>T		.	.	.	.	.	.	.	.	.	.	C	14.09	2.431636	0.43122	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.55	5.55	0.83447	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82309	0.5009	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85603	0.1253	9	0.87932	D	0	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	9029;9154;9221;16453	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	15526;9029;9221;9154;9029	ENSP00000343764:G15526C;ENSP00000434586:G9029C;ENSP00000340554:G9221C;ENSP00000352154:G9154C	ENSP00000340554:G9221C	G	-	1	0	TTN	179177781	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.742000	0.85008	2.767000	0.95098	0.563000	0.77884	GGC		PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	147	7	147	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179471753	179471753	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179471753G>T	ENST00000591111.1	-	228	48877	c.48653C>A	c.(48652-48654)cCa>cAa	p.P16218Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P8986Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8794Q|TTN_ENST00000589042.1_Missense_Mutation_p.P17859Q|TTN_ENST00000342992.6_Missense_Mutation_p.P15291Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8919Q			Q8WZ42	TITIN_HUMAN	titin	16218	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P15291Q(2)|p.P8919Q(1)|p.P8794Q(1)|p.P8986Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACCTAGTGGATCAACTGC	0.393																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(45871-45873)CCA>CAA		titin isoform N2-A							125.0	118.0	120.0					2																	179471753		1862	4094	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471753G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48653C>A	2.37:g.179471753G>T	ENSP00000465570:p.Pro16218Gln					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P8986Q|TTN_uc010zfi.1_Missense_Mutation_p.P8919Q|TTN_uc010zfj.1_Missense_Mutation_p.P8794Q	p.P15291Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		227	46096	-			16218					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45872C>A		.	.	.	.	.	.	.	.	.	.	G	12.65	2.001230	0.35320	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.35	5.35	0.76521	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.72574	0.3477	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.75199	-0.3402	9	0.87932	D	0	.	19.0709	0.93136	0.0:0.0:1.0:0.0	.	8794;8919;8986;16218	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15291;8794;8986;8919;8794	ENSP00000343764:P15291Q;ENSP00000434586:P8794Q;ENSP00000340554:P8986Q;ENSP00000352154:P8919Q	ENSP00000340554:P8986Q	P	-	2	0	TTN	179179998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.515000	0.84797	0.561000	0.74099	CCA		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	179	7	179	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179472360	179472360	+	Missense_Mutation	SNP	C	C	A	rs200387466	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179472360C>A	ENST00000591111.1	-	227	48356	c.48132G>T	c.(48130-48132)atG>atT	p.M16044I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M8812I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M8620I|TTN_ENST00000589042.1_Missense_Mutation_p.M17685I|TTN_ENST00000342992.6_Missense_Mutation_p.M15117I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M8745I			Q8WZ42	TITIN_HUMAN	titin	16044	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.M15117I(2)|p.M8620I(1)|p.M8745I(1)|p.M8812I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCCCAGCCATTATTTGTA	0.448																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(45349-45351)ATG>ATT		titin isoform N2-A							129.0	129.0	129.0					2																	179472360		1860	4095	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472360C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48132G>T	2.37:g.179472360C>A	ENSP00000465570:p.Met16044Ile					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M8812I|TTN_uc010zfi.1_Missense_Mutation_p.M8745I|TTN_uc010zfj.1_Missense_Mutation_p.M8620I	p.M15117I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	45575	-			16044					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45351G>T		.	.	.	.	.	.	.	.	.	.	C	11.45	1.642757	0.29246	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50017	0.1591	N	0.11364	0.135	0.40803	D	0.983352	B;B;B;B	0.16396	0.017;0.017;0.017;0.017	B;B;B;B	0.18871	0.023;0.023;0.023;0.023	T	0.50039	-0.8874	9	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	8620;8745;8812;16044	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15117;8620;8812;8745;8620	ENSP00000343764:M15117I;ENSP00000434586:M8620I;ENSP00000340554:M8812I;ENSP00000352154:M8745I	ENSP00000340554:M8812I	M	-	3	0	TTN	179180605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.494000	0.53273	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	142	6	142	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179577134	179577134	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179577134G>T	ENST00000591111.1	-	93	26788	c.26564C>A	c.(26563-26565)cCa>cAa	p.P8855Q	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P9172Q|TTN_ENST00000342992.6_Missense_Mutation_p.P7928Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13004	Ig-like 71.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P7928Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGCTACTTGGAATTTCCAG	0.403																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(23782-23784)CCA>CAA		titin isoform N2-A							138.0	138.0	138.0					2																	179577134		1857	4107	5964	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577134G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26564C>A	2.37:g.179577134G>T	ENSP00000465570:p.Pro8855Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4589Q	p.P7928Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		92	24007	-			8855					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23783C>A		.	.	.	.	.	.	.	.	.	.	G	12.56	1.975039	0.34848	.	.	ENSG00000155657	ENST00000342992	T	0.64618	-0.11	5.88	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56337	0.1978	N	0.22421	0.69	0.80722	D	1	B	0.27192	0.171	B	0.38842	0.283	T	0.59674	-0.7410	9	0.87932	D	0	.	14.1187	0.65172	0.0727:0.0:0.9273:0.0	.	8855	Q8WZ42	TITIN_HUMAN	Q	7928	ENSP00000343764:P7928Q	ENSP00000343764:P7928Q	P	-	2	0	TTN	179285379	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	6.049000	0.71053	1.450000	0.47717	0.655000	0.94253	CCA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	244	9	244	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179617883	179617883	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179617883C>T	ENST00000591111.1	-	45	10552	c.10328G>A	c.(10327-10329)aGg>aAg	p.R3443K	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3443K|TTN_ENST00000342175.6_Missense_Mutation_p.R3589K|TTN_ENST00000460472.2_Missense_Mutation_p.R3397K|TTN_ENST00000589042.1_Missense_Mutation_p.R3760K|TTN_ENST00000342992.6_Missense_Mutation_p.R3443K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3522K			Q8WZ42	TITIN_HUMAN	titin	13756					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R3443K(3)|p.R3522K(1)|p.R3589K(1)|p.R3397K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTTCAATCCTCTCATGCAA	0.299																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10327-10329)AGG>AAG		titin isoform N2-A							50.0	53.0	52.0					2																	179617883		2197	4283	6480	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179617883C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10328G>A	2.37:g.179617883C>T	ENSP00000465570:p.Arg3443Lys					TTN_uc010zfh.1_Missense_Mutation_p.R3589K|TTN_uc010zfi.1_Missense_Mutation_p.R3522K|TTN_uc010zfj.1_Missense_Mutation_p.R3397K|TTN_uc002umz.1_Missense_Mutation_p.R104K|TTN_uc002unb.2_Missense_Mutation_p.R3443K	p.R3443K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		45	10552	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10328G>A		.	.	.	.	.	.	.	.	.	.	C	10.18	1.279977	0.23392	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	T;T;T;T;T	0.61859	0.07;0.31;0.21;0.21;0.51	5.94	4.13	0.48395	Ribonuclease H-like (1);	.	.	.	.	T	0.42810	0.1219	N	0.24115	0.695	0.22424	N	0.999119	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.37056	-0.9722	9	0.87932	D	0	.	8.5266	0.33309	0.0:0.7469:0.0:0.2531	.	3397;3522;3589;3443;3443	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	3443;3397;3589;3522;3397;3443;48	ENSP00000343764:R3443K;ENSP00000434586:R3397K;ENSP00000340554:R3589K;ENSP00000352154:R3522K;ENSP00000354117:R3443K	ENSP00000340554:R3589K	R	-	2	0	TTN	179326128	1.000000	0.71417	0.983000	0.44433	0.973000	0.67179	3.315000	0.51951	1.498000	0.48600	0.643000	0.83706	AGG		PASS	0.299	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	66	8	66	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179654793	179654793	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179654793G>A	ENST00000591111.1	-	12	2074	c.1850C>T	c.(1849-1851)aCa>aTa	p.T617I	TTN_ENST00000360870.5_Missense_Mutation_p.T617I|TTN_ENST00000342175.6_Missense_Mutation_p.T571I|TTN_ENST00000460472.2_Missense_Mutation_p.T571I|TTN_ENST00000589042.1_Missense_Mutation_p.T617I|TTN_ENST00000342992.6_Missense_Mutation_p.T617I|TTN_ENST00000359218.5_Missense_Mutation_p.T571I			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T571I(3)|p.T617I(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTTGGGTGTGGCAACTAT	0.333																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1849-1851)ACA>ATA		titin isoform N2-A							246.0	223.0	231.0					2																	179654793		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654793G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1850C>T	2.37:g.179654793G>A	ENSP00000465570:p.Thr617Ile					TTN_uc010zfh.1_Missense_Mutation_p.T571I|TTN_uc010zfi.1_Missense_Mutation_p.T571I|TTN_uc010zfj.1_Missense_Mutation_p.T571I|TTN_uc002unb.2_Missense_Mutation_p.T617I|TTN_uc010frg.1_Intron	p.T617I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		12	2074	-			617					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1850C>T		.	.	.	.	.	.	.	.	.	.	G	10.90	1.481227	0.26598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.87	4.09	0.47781	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.48892	0.1525	L	0.54323	1.7	0.18873	N	0.999987	B;B;B;B;B	0.26195	0.004;0.004;0.022;0.004;0.144	B;B;B;B;B	0.27170	0.012;0.012;0.028;0.012;0.077	T	0.47837	-0.9086	9	0.87932	D	0	.	9.8541	0.41075	0.2072:0.0:0.7928:0.0	.	571;571;571;617;617	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	617;571;571;571;571;617	ENSP00000343764:T617I;ENSP00000434586:T571I;ENSP00000340554:T571I;ENSP00000352154:T571I;ENSP00000354117:T617I	ENSP00000340554:T571I	T	-	2	0	TTN	179363038	0.206000	0.23470	0.736000	0.30914	0.998000	0.95712	2.320000	0.43797	0.836000	0.34901	0.655000	0.94253	ACA		PASS	0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		68	29	68	29	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179742795	179742795	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:179742795C>T	ENST00000409284.1	-	12	1912	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	CCDC141_ENST00000420890.2_Missense_Mutation_p.A599T|CCDC141_ENST00000295723.5_Missense_Mutation_p.A24T			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	599								p.A599T(2)|p.A24T(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAATGCTTGGCTTTAGCATCA	0.363																																						uc002unf.1																			3	Substitution - Missense(3)		lung(3)	ovary(7)|pancreas(2)|skin(1)	10						c.(70-72)GCC>ACC		coiled-coil domain containing 141							93.0	90.0	91.0					2																	179742795		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179742795C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1795G>A	2.37:g.179742795C>T	ENSP00000386503:p.Ala599Thr					CCDC141_uc002ung.2_Missense_Mutation_p.A599T	p.A24T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		2	127	-			24					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37	c.70G>A		.	.	.	.	.	.	.	.	.	.	c	14.38	2.516819	0.44763	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.46063	0.88;1.53;1.48;1.5	5.23	0.868	0.19090	.	0.773939	0.11289	N	0.579517	T	0.21801	0.0525	N	0.24115	0.695	0.09310	N	1	B;B	0.23650	0.005;0.089	B;B	0.20767	0.003;0.031	T	0.25047	-1.0143	10	0.12766	T	0.61	0.1459	3.3929	0.07295	0.3782:0.3411:0.0:0.2807	.	599;24	B8ZZB3;Q6ZP82	.;CC141_HUMAN	T	599;43;24;599;534;599	ENSP00000395995:A599T;ENSP00000344627:A43T;ENSP00000295723:A24T;ENSP00000390190:A599T	ENSP00000295723:A24T	A	-	1	0	CCDC141	179451040	0.006000	0.16342	0.003000	0.11579	0.417000	0.31264	0.426000	0.21363	0.210000	0.20664	0.580000	0.79431	GCC		PASS	0.363	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1	NM_173648		53	41	53	41	---	---	---	---
C2orf66	401027	broad.mit.edu	37	2	197672176	197672176	+	Silent	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:197672176G>C	ENST00000342506.2	-	2	1233	c.345C>G	c.(343-345)ctC>ctG	p.L115L		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	115						extracellular region (GO:0005576)		p.L115L(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						TTCAGCCTTTGAGATAATTGT	0.388																																						uc002utv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)CTC>CTG		hypothetical protein LOC401027 precursor							70.0	72.0	71.0					2																	197672176		2203	4300	6503	SO:0001819	synonymous_variant	401027					extracellular region		g.chr2:197672176G>C		CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.345C>G	2.37:g.197672176G>C							p.L115L	NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN			2	1234	-			115					B2RNW3	Silent	SNP	ENST00000342506.2	37	c.345C>G	CCDS2317.1																																																																																				PASS	0.388	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608		16	84	16	84	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201436176	201436176	+	Silent	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:201436176T>C	ENST00000357799.4	+	7	1205	c.1107T>C	c.(1105-1107)gcT>gcC	p.A369A		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	369					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.A369A(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATTTAACTGCTAGTGAAGTCA	0.343																																						uc002uvw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1105-1107)GCT>GCC		shugoshin-like 2 isoform 1							37.0	35.0	36.0					2																	201436176		1866	4092	5958	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436176T>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1107T>C	2.37:g.201436176T>C						SGOL2_uc010zhd.1_Silent_p.A369A|SGOL2_uc010zhe.1_Silent_p.A369A	p.A369A	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1220	+			369					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.1107T>C	CCDS42796.1																																																																																				PASS	0.343	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		10	34	10	34	---	---	---	---
FAM126B	285172	broad.mit.edu	37	2	201857011	201857011	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:201857011G>T	ENST00000418596.3	-	10	1011	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	275						intracellular (GO:0005622)		p.P275Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TACCAATAGTGGTTGAGAAAA	0.338																																						uc002uws.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)CCA>CAA		hypothetical protein LOC285172							71.0	78.0	76.0					2																	201857011		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201857011G>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.824C>A	2.37:g.201857011G>T	ENSP00000393667:p.Pro275Gln					FAM126B_uc002uwu.2_Missense_Mutation_p.P193Q|FAM126B_uc002uwv.2_Missense_Mutation_p.P275Q	p.P275Q	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			10	1012	-			275					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.824C>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588580	0.86851	.	.	ENSG00000155744	ENST00000418596	T	0.77358	-1.09	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.80028	2.48	0.80722	D	1	P;D	0.69078	0.901;0.997	P;D	0.69142	0.776;0.962	D	0.89259	0.3596	10	0.59425	D	0.04	-5.5112	19.3683	0.94473	0.0:0.0:1.0:0.0	.	81;275	B3KUG1;Q8IXS8	.;F126B_HUMAN	Q	275	ENSP00000393667:P275Q	ENSP00000393667:P275Q	P	-	2	0	FAM126B	201565256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.945000	0.92985	2.568000	0.86640	0.555000	0.69702	CCA		PASS	0.338	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		5	76	5	76	---	---	---	---
TMEM237	65062	broad.mit.edu	37	2	202494079	202494079	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:202494079T>C	ENST00000409883.2	-	9	859	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	TMEM237_ENST00000409444.2_Missense_Mutation_p.Y240C|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	248					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Y248C(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TGCTAGAACATATATCACAAC	0.408																																						uc002uyh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)TAT>TGT		amyotrophic lateral sclerosis 2 (juvenile)							77.0	78.0	78.0					2																	202494079		1986	4174	6160	SO:0001583	missense	65062					integral to membrane	protein binding	g.chr2:202494079T>C	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.743A>G	2.37:g.202494079T>C	ENSP00000386264:p.Tyr248Cys					ALS2CR4_uc002uyg.1_Missense_Mutation_p.Y240C|ALS2CR4_uc010zho.1_Missense_Mutation_p.Y43C|ALS2CR4_uc010zhp.1_RNA	p.Y248C	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN			10	844	-			272					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	c.743A>G	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120593	0.56613	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.81	4.62	0.57501	.	0.108339	0.64402	N	0.000003	T	0.48732	0.1516	L	0.39397	1.21	0.54753	D	0.999989	B;B	0.27140	0.169;0.099	B;B	0.25884	0.064;0.064	T	0.46843	-0.9162	9	0.66056	D	0.02	-1.9993	12.0606	0.53561	0.0:0.0679:0.0:0.9321	.	248;272	E9PAR8;Q96Q45	.;TM237_HUMAN	C	240;248;248;270;153	.	ENSP00000386949:Y153C	Y	-	2	0	TMEM237	202202324	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	5.958000	0.70330	0.978000	0.38470	0.533000	0.62120	TAT		PASS	0.408	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		24	21	24	21	---	---	---	---
C2orf80	389073	broad.mit.edu	37	2	209046009	209046009	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:209046009C>A	ENST00000341287.4	-	5	422	c.227G>T	c.(226-228)aGa>aTa	p.R76I	C2orf80_ENST00000451346.1_Missense_Mutation_p.R57I|C2orf80_ENST00000453017.1_Missense_Mutation_p.R76I	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	76								p.R76I(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						ATATATGGGTCTGCCATGGAG	0.353																																						uc002vcr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(226-228)AGA>ATA		hypothetical protein LOC389073							119.0	108.0	112.0					2																	209046009		1831	4082	5913	SO:0001583	missense	389073							g.chr2:209046009C>A	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.227G>T	2.37:g.209046009C>A	ENSP00000343171:p.Arg76Ile						p.R76I	NM_001099334	NP_001092804	Q0P641	CB080_HUMAN			5	399	-			76					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.227G>T	CCDS42809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.93|16.93	3.257594|3.257594	0.59321|0.59321	.|.	.|.	ENSG00000188674|ENSG00000188674	ENST00000428015|ENST00000451342;ENST00000341287;ENST00000451346;ENST00000453017	.|T;T;T;T	.|0.57907	.|0.8;1.26;1.13;0.37	4.97|4.97	3.94|3.94	0.45596|0.45596	.|.	.|0.102971	.|0.43919	.|D	.|0.000512	T|T	0.54046|0.54046	0.1834|0.1834	L|L	0.34521|0.34521	1.04|1.04	0.20563|0.20563	N|N	0.99989|0.99989	.|D	.|0.57899	.|0.981	.|P	.|0.59012	.|0.85	T|T	0.44787|0.44787	-0.9305|-0.9305	5|10	.|0.66056	.|D	.|0.02	-16.6603|-16.6603	8.8232|8.8232	0.35039|0.35039	0.0:0.8655:0.0:0.1345|0.0:0.8655:0.0:0.1345	.|.	.|76	.|Q0P641	.|CB080_HUMAN	H|I	27|1;76;57;76	.|ENSP00000389385:R1I;ENSP00000343171:R76I;ENSP00000405393:R57I;ENSP00000397144:R76I	.|ENSP00000343171:R76I	Q|R	-|-	3|2	2|0	C2orf80|C2orf80	208754254|208754254	0.344000|0.344000	0.24827|0.24827	0.129000|0.129000	0.21949|0.21949	0.171000|0.171000	0.22731|0.22731	0.505000|0.505000	0.22642|0.22642	1.202000|1.202000	0.43218|0.43218	0.563000|0.563000	0.77884|0.77884	CAG|AGA		PASS	0.353	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		18	29	18	29	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209358352	209358352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:209358352G>T	ENST00000272847.2	+	13	1834	c.1621G>T	c.(1621-1623)Gga>Tga	p.G541*	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	541					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.G541*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	AGACACTGAAGGATGCCAAGG	0.498																																						uc002vdb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1621-1623)GGA>TGA		parathyroid hormone 2 receptor precursor							85.0	85.0	85.0					2																	209358352		2203	4300	6503	SO:0001587	stop_gained	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358352G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1621G>T	2.37:g.209358352G>T	ENSP00000272847:p.Gly541*					PTH2R_uc010zjb.1_Nonsense_Mutation_p.G552*|PTH2R_uc010fuo.1_Intron	p.G541*	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1834	+			541			Cytoplasmic (Potential).		Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	37	c.1621G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713827	0.96830	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.71	4.83	0.62350	.	0.000000	0.35495	U	0.003173	.	.	.	.	.	.	0.43608	D	0.995973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.341	0.55093	0.0817:0.0:0.9183:0.0	.	.	.	.	X	541	.	.	G	+	1	0	PTH2R	209066597	0.935000	0.31712	0.021000	0.16686	0.054000	0.15201	2.897000	0.48664	1.421000	0.47157	0.591000	0.81541	GGA		PASS	0.498	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		17	70	17	70	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	211019273	211019273	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:211019273C>A	ENST00000281772.9	-	2	297	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KANSL1L_ENST00000457374.1_Missense_Mutation_p.G12C|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000452086.1_Missense_Mutation_p.G12C|KANSL1L_ENST00000418791.1_Missense_Mutation_p.G12C	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	12						histone acetyltransferase complex (GO:0000123)		p.G12C(1)									AAGCTGATACCCTTTGCTGTT	0.413																																						uc002vds.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(34-36)GGT>TGT		hypothetical protein LOC151050							63.0	62.0	62.0					2																	211019273		2203	4300	6503	SO:0001583	missense	151050							g.chr2:211019273C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.34G>T	2.37:g.211019273C>A	ENSP00000281772:p.Gly12Cys					C2orf67_uc002vdt.2_Missense_Mutation_p.G12C|C2orf67_uc002vdw.2_Missense_Mutation_p.G12C|C2orf67_uc002vdy.1_Missense_Mutation_p.G12C|C2orf67_uc002vdv.2_Missense_Mutation_p.G12C|C2orf67_uc002vdx.1_Missense_Mutation_p.G12C	p.G12C	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	2	242	-		Renal(323;0.202)	12					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.34G>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105059	0.56291	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.85	4.02	0.46733	.	0.338495	0.29522	N	0.011919	T	0.63873	0.2548	L	0.29908	0.895	0.40208	D	0.977596	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	T	0.66468	-0.5916	9	0.87932	D	0	.	11.5104	0.50490	0.0:0.8067:0.1259:0.0674	.	12;12;12;12	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	C	12	.	ENSP00000281772:G12C	G	-	1	0	C2orf67	210727518	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.124000	0.42006	0.792000	0.33850	0.563000	0.77884	GGT		PASS	0.413	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		8	176	8	176	---	---	---	---
ACADL	33	broad.mit.edu	37	2	211081131	211081131	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:211081131G>T	ENST00000233710.3	-	4	703	c.476C>A	c.(475-477)cCc>cAc	p.P159H	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	159					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)	p.P159H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		AGTCATCTGGGGAATAAAGTG	0.398																																						uc002vdz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CCC>CAC		long-chain acyl-CoA dehydrogenase precursor							169.0	157.0	161.0					2																	211081131		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211081131G>T	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.476C>A	2.37:g.211081131G>T	ENSP00000233710:p.Pro159His						p.P159H	NM_001608	NP_001599	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	4	704	-		Renal(323;0.202)	159					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.476C>A	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645275	0.87859	.	.	ENSG00000115361	ENST00000233710	D	0.99836	-7.05	5.63	5.63	0.86233	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96478	0.9354	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	159	P28330	ACADL_HUMAN	H	159	ENSP00000233710:P159H	ENSP00000233710:P159H	P	-	2	0	ACADL	210789376	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.124000	0.94394	2.805000	0.96524	0.655000	0.94253	CCC		PASS	0.398	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		7	117	7	117	---	---	---	---
DAW1	164781	broad.mit.edu	37	2	228770955	228770955	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:228770955G>T	ENST00000309931.2	+	9	842	c.759G>T	c.(757-759)aaG>aaT	p.K253N	DAW1_ENST00000545118.1_Missense_Mutation_p.K238N|DAW1_ENST00000373666.2_Missense_Mutation_p.K253N	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	253						cilium (GO:0005929)		p.K253N(1)									GTTGTAGGAAGGTAAATATCT	0.358																																						uc002vpn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(757-759)AAG>AAT		WD repeat domain 69							157.0	158.0	158.0					2																	228770955		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228770955G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.759G>T	2.37:g.228770955G>T	ENSP00000311899:p.Lys253Asn					WDR69_uc010zlw.1_Missense_Mutation_p.K238N|WDR69_uc002vpo.1_RNA	p.K253N	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	9	838	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	253			WD 4.		Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.759G>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	9.266	1.044383	0.19748	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.60299	0.2;0.2;0.2	5.77	0.601	0.17529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.657236	0.15897	N	0.239245	T	0.54695	0.1874	L	0.33624	1.015	0.30182	N	0.800297	B	0.34399	0.452	P	0.50896	0.653	T	0.55121	-0.8190	10	0.17832	T	0.49	.	9.0344	0.36277	0.4132:0.0:0.5868:0.0	.	253	Q8N136	WDR69_HUMAN	N	253;253;238	ENSP00000362770:K253N;ENSP00000311899:K253N;ENSP00000437887:K238N	ENSP00000311899:K253N	K	+	3	2	WDR69	228479199	1.000000	0.71417	0.915000	0.36163	0.113000	0.19764	0.983000	0.29552	0.032000	0.15435	-0.373000	0.07131	AAG		PASS	0.358	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		5	63	5	63	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228883619	228883619	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:228883619C>A	ENST00000392056.3	-	7	1997	c.1951G>T	c.(1951-1953)Gct>Tct	p.A651S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A651S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	651						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A651S(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACTTTGAAGCAGTTTCCATG	0.463																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(1951-1953)GCT>TCT		sphingosine kinase type 1-interacting protein							127.0	118.0	121.0					2																	228883619		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883619C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1951G>T	2.37:g.228883619C>A	ENSP00000375909:p.Ala651Ser					SPHKAP_uc002vpp.2_Missense_Mutation_p.A651S|SPHKAP_uc010zlx.1_Missense_Mutation_p.A651S	p.A651S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1998	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	651					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1951G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482112	0.63849	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.47528	0.84;0.84	5.54	2.61	0.31194	.	0.442773	0.26300	N	0.025177	T	0.42404	0.1201	L	0.48642	1.525	0.24954	N	0.99177	P;P	0.48089	0.666;0.905	B;P	0.45610	0.212;0.487	T	0.30327	-0.9982	10	0.59425	D	0.04	.	8.262	0.31790	0.0:0.7164:0.1316:0.1521	.	651;651	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	S	651	ENSP00000375909:A651S;ENSP00000339886:A651S	ENSP00000339886:A651S	A	-	1	0	SPHKAP	228591863	0.828000	0.29307	0.635000	0.29338	0.995000	0.86356	1.473000	0.35387	0.741000	0.32674	0.655000	0.94253	GCT		PASS	0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		18	58	18	58	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234094557	234094557	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:234094557G>A	ENST00000359570.5	+	23	2308	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	INPP5D_ENST00000455936.2_Missense_Mutation_p.E534K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E534K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	782					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.E782K(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GAAGTTTGGTGAGACTCTTCC	0.488																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2344-2346)GAG>AAG		SH2 containing inositol phosphatase isoform a							84.0	92.0	89.0					2																	234094557		1954	4134	6088	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234094557G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2308G>A	2.37:g.234094557G>A	ENSP00000352575:p.Glu770Lys					INPP5D_uc010zmp.1_Missense_Mutation_p.E781K	p.E782K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	20	2497	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	782					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2344G>A		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885691	0.33255	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96334	-3.88;-3.94;-3.94;-3.98;-3.98;-3.98	5.34	5.34	0.76211	.	0.488741	0.24109	N	0.041471	D	0.93145	0.7817	.	.	.	0.39212	D	0.963342	P;P	0.40144	0.646;0.704	B;B	0.32928	0.155;0.109	D	0.93309	0.6683	9	0.33141	T	0.24	.	17.3124	0.87213	0.0:0.0:1.0:0.0	.	781;782	Q92835-2;Q92835	.;SHIP1_HUMAN	K	770;534;534;403;403;403	ENSP00000352575:E770K;ENSP00000407916:E534K;ENSP00000404610:E534K;ENSP00000400151:E403K;ENSP00000397421:E403K;ENSP00000405338:E403K	ENSP00000352575:E770K	E	+	1	0	INPP5D	233759296	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	4.748000	0.62148	2.510000	0.84645	0.650000	0.86243	GAG		PASS	0.488	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	12	12	12	---	---	---	---
SPP2	6694	broad.mit.edu	37	2	234969103	234969103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:234969103G>T	ENST00000168148.3	+	4	512	c.424G>T	c.(424-426)Gag>Tag	p.E142*	SPP2_ENST00000373368.1_Nonsense_Mutation_p.E142*	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	142					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)	p.E142*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CTCCACGTCTGAGTCTTACAG	0.562																																						uc002vvk.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(424-426)GAG>TAG		secreted phosphoprotein 2, 24kDa precursor							72.0	62.0	65.0					2																	234969103		2203	4300	6503	SO:0001587	stop_gained	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234969103G>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.424G>T	2.37:g.234969103G>T	ENSP00000168148:p.Glu142*					SPP2_uc010fyl.1_Nonsense_Mutation_p.E62*	p.E142*	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	4	509	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	142					A4QMV3|Q3B892|Q546M5	Nonsense_Mutation	SNP	ENST00000168148.3	37	c.424G>T	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340898	0.60963	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	.	.	.	5.1	5.1	0.69264	.	0.575887	0.18482	N	0.139892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.1691	14.0268	0.64590	0.0:0.0:1.0:0.0	.	.	.	.	X	142;142;62	.	ENSP00000168148:E142X	E	+	1	0	SPP2	234633842	0.999000	0.42202	0.221000	0.23827	0.017000	0.09413	4.648000	0.61425	2.351000	0.79841	0.655000	0.94253	GAG		PASS	0.562	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		13	20	13	20	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238285988	238285988	+	Splice_Site	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:238285988C>T	ENST00000295550.4	-	7	2950		c.e7-1		COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000392004.3_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000392003.2_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGCTTGCTCTCTGCAATGAAG	0.478																																						uc002vwl.2																			2	Unknown(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.e7-1		alpha 3 type VI collagen isoform 1 precursor							70.0	73.0	72.0					2																	238285988		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285988C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2498-1G>A	2.37:g.238285988C>T						COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Splice_Site_p.E226_splice|COL6A3_uc002vwq.2_Splice_Site_p.E627_splice|COL6A3_uc002vwr.2_Splice_Site_p.E426_splice|COL6A3_uc010znk.1_Intron	p.E833_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	2783	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37	c.2498_splice	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859739	0.51376	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1223	0.89576	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237950727	1.000000	0.71417	0.987000	0.45799	0.601000	0.36947	5.284000	0.65627	2.720000	0.93068	0.655000	0.94253	.		PASS	0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	30	25	30	25	---	---	---	---
PRR21	643905	broad.mit.edu	37	2	240982214	240982214	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:240982214C>T	ENST00000408934.1	-	1	185	c.186G>A	c.(184-186)acG>acA	p.T62T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	62	Pro-rich.							p.T62T(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GGTGAAGAGCCGTGGATGAAG	0.612																																						uc010zod.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(184-186)ACG>ACA		proline rich 21							132.0	118.0	123.0					2																	240982214		2203	4300	6503	SO:0001819	synonymous_variant	643905							g.chr2:240982214C>T	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.186G>A	2.37:g.240982214C>T							p.T62T	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	186	-			62			Pro-rich.			Silent	SNP	ENST00000408934.1	37	c.186G>A	CCDS33417.1																																																																																				PASS	0.612	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		10	13	10	13	---	---	---	---
MYEOV2	150678	broad.mit.edu	37	2	241066130	241066130	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr2:241066130G>T	ENST00000307266.3	-	5	608	c.609C>A	c.(607-609)acC>acA	p.T203T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0								p.T203T(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TGCTTCTTGTGGTTCTGAGCA	0.468																																						uc002vyu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(607-609)ACC>ACA		hypothetical protein LOC150678 isoform 1							240.0	208.0	219.0					2																	241066130		2203	4300	6503	SO:0001819	synonymous_variant	150678							g.chr2:241066130G>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.609C>A	2.37:g.241066130G>T							p.T203T	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	609	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Error:Variant_position_missing_in_Q8WXC6_after_alignment					Q8N110	Silent	SNP	ENST00000307266.3	37	c.609C>A	CCDS2532.1																																																																																				PASS	0.468	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		5	62	5	62	---	---	---	---
IL17RE	132014	broad.mit.edu	37	3	9956415	9956415	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:9956415C>A	ENST00000383814.3	+	15	1506	c.1401C>A	c.(1399-1401)acC>acA	p.T467T	IL17RE_ENST00000421412.1_Silent_p.T500T|IL17RC_ENST00000413608.1_5'Flank|IL17RE_ENST00000454190.2_Missense_Mutation_p.P492T|IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000455057.1_5'Flank|IL17RE_ENST00000295980.3_Silent_p.T467T|IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000416074.2_5'Flank|IL17RC_ENST00000383812.4_5'Flank	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	467					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T467T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CCCTCCTCACCCTACTGGGTG	0.612																																						uc003btu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1399-1401)ACC>ACA		interleukin 17 receptor E isoform 1							108.0	113.0	111.0					3																	9956415		2203	4300	6503	SO:0001819	synonymous_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9956415C>A	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1401C>A	3.37:g.9956415C>A						CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Silent_p.T467T|IL17RE_uc003btx.2_Silent_p.T351T|IL17RE_uc010hcq.2_Missense_Mutation_p.P492T|IL17RE_uc003bty.2_RNA	p.T467T	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	16	1518	+			467			Helical; (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	c.1401C>A	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522140	0.13066	.	.	ENSG00000163701	ENST00000454190	T	0.27557	1.66	4.6	1.81	0.25067	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.21802	N	0.999537	D	0.53312	0.959	P	0.51615	0.675	T	0.11842	-1.0571	7	.	.	.	-5.8384	6.039	0.19724	0.0:0.6652:0.0:0.3348	.	492	Q8NFR9-3	.	T	492	ENSP00000388086:P492T	.	P	+	1	0	IL17RE	9931415	0.001000	0.12720	0.011000	0.14972	0.189000	0.23516	-0.433000	0.06948	0.186000	0.20125	0.491000	0.48974	CCT		PASS	0.612	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		5	40	5	40	---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12633208	12633208	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:12633208G>T	ENST00000251849.4	-	11	1631	c.1192C>A	c.(1192-1194)Cgc>Agc	p.R398S	RAF1_ENST00000542177.1_Splice_Site_p.R317S|RAF1_ENST00000534997.1_Splice_Site_p.R183S|RAF1_ENST00000442415.2_Splice_Site_p.R418S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R398S(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCTACTCACCGCAGAACAGCC	0.547			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													uc003bxf.3				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|SRGAP3/RAF1(4)	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14						c.(1192-1194)CGC>AGC		v-raf-1 murine leukemia viral oncogene homolog	Sorafenib(DB00398)						94.0	86.0	89.0					3																	12633208		2203	4300	6503	SO:0001630	splice_region_variant	5894	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	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12633208G>T	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1193+1C>A	3.37:g.12633208G>T						RAF1_uc011aut.1_Missense_Mutation_p.R183S|RAF1_uc011auu.1_Missense_Mutation_p.R316S	p.R398S	NM_002880	NP_002871	P04049	RAF1_HUMAN			11	1607	-			398			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1192C>A	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357388	0.82243	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.15	4.21	0.49690	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	N	0.05608	-0.01	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.78314	0.988;0.973;0.991	T	0.82643	-0.0356	10	0.87932	D	0	.	11.331	0.49477	0.0:0.0:0.6606:0.3394	.	317;183;398	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	S	398;418;277;183;317	ENSP00000251849:R398S;ENSP00000401888:R418S;ENSP00000398591:R277S;ENSP00000441186:R183S;ENSP00000443567:R317S	ENSP00000251849:R398S	R	-	1	0	RAF1	12608208	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.483000	0.66838	2.838000	0.97847	0.655000	0.94253	CGC		PASS	0.547	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	Missense_Mutation	18	13	18	13	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27439274	27439274	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:27439274G>T	ENST00000295736.5	-	18	2647	c.2577C>A	c.(2575-2577)atC>atA	p.I859I	SLC4A7_ENST00000455077.1_Silent_p.I740I|SLC4A7_ENST00000435667.2_Silent_p.I744I|SLC4A7_ENST00000428386.1_Silent_p.I735I|SLC4A7_ENST00000388777.4_Silent_p.I409I|SLC4A7_ENST00000437179.1_Silent_p.I740I|SLC4A7_ENST00000446700.1_Silent_p.I851I|SLC4A7_ENST00000440156.1_Silent_p.I855I|SLC4A7_ENST00000445684.1_Silent_p.I855I|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Silent_p.I868I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	859					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.I859I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CAAAATCACTGATTGTCGATC	0.303																																						uc003cdv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2575-2577)ATC>ATA		solute carrier family 4, sodium bicarbonate							73.0	70.0	71.0					3																	27439274		2202	4297	6499	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27439274G>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2577C>A	3.37:g.27439274G>T						SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Silent_p.I740I|SLC4A7_uc011aww.1_Silent_p.I868I|SLC4A7_uc011awx.1_Silent_p.I855I|SLC4A7_uc011awy.1_Silent_p.I851I|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Silent_p.I740I|SLC4A7_uc011axb.1_Silent_p.I855I|SLC4A7_uc010hfl.2_Silent_p.I409I|SLC4A7_uc003cdw.2_Silent_p.I735I	p.I859I	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			18	2648	-			859			Cytoplasmic (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.2577C>A	CCDS33721.1																																																																																				PASS	0.303	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	20	4	20	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38655263	38655263	+	Missense_Mutation	SNP	C	C	T	rs199473071		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:38655263C>T	ENST00000333535.4	-	6	823	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.R225Q|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.R225Q|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000449557.2_Missense_Mutation_p.R225Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	225			R -> Q (in LQT3). {ECO:0000269|PubMed:16922724}.|R -> W (in PFHB1A). {ECO:0000269|PubMed:12574143}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R225Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTTCAGGGCCCGGAGGACTCG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19700	0.001		0.0	False		,,,				2504	0.0					uc003cio.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	GRCh37	CM064255	SCN5A	M		c.(673-675)CGG>CAG		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						48.0	50.0	50.0					3																	38655263		1976	4174	6150	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38655263C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.674G>A	3.37:g.38655263C>T	ENSP00000328968:p.Arg225Gln					SCN5A_uc003cin.2_Missense_Mutation_p.R225Q|SCN5A_uc003cil.3_Intron|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhl.1_Intron	p.R225Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	6	868	-	Medulloblastoma(35;0.163)		225		R -> W (in PFHB1A).|R -> Q (in LQT3).	Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.674G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255144	0.95336	.	.	ENSG00000183873	ENST00000423572;ENST00000443581;ENST00000333535;ENST00000449557	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.874;0.998	D	0.96214	0.9155	10	0.87932	D	0	.	17.0399	0.86486	0.0:1.0:0.0:0.0	.	225;225	Q14524;Q14524-2	SCN5A_HUMAN;.	Q	225	ENSP00000398266:R225Q;ENSP00000397915:R225Q;ENSP00000328968:R225Q;ENSP00000413996:R225Q	ENSP00000328968:R225Q	R	-	2	0	SCN5A	38630267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.249000	0.74217	0.555000	0.69702	CGG		PASS	0.498	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		6	3	6	3	---	---	---	---
WDR48	57599	broad.mit.edu	37	3	39136189	39136189	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:39136189G>C	ENST00000302313.5	+	19	2017	c.1989G>C	c.(1987-1989)aaG>aaC	p.K663N	WDR48_ENST00000544962.1_Missense_Mutation_p.K388N|WDR48_ENST00000418020.1_Missense_Mutation_p.K107N|WDR48_ENST00000396258.3_Missense_Mutation_p.K581N|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	663					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.K663N(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCATATGGAAGAGCGGTGGAG	0.418																																						uc003cit.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1987-1989)AAG>AAC		WD repeat domain 48							133.0	128.0	130.0					3																	39136189		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39136189G>C	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1989G>C	3.37:g.39136189G>C	ENSP00000307491:p.Lys663Asn					WDR48_uc011ayt.1_Missense_Mutation_p.K654N|WDR48_uc011ayu.1_Missense_Mutation_p.K581N|WDR48_uc011ayv.1_Missense_Mutation_p.K388N|WDR48_uc003ciu.2_RNA	p.K663N	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	19	1999	+			663					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.1989G>C	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706336	0.68615	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.93426	0.41;-3.22;0.14	5.7	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;1.0;1.0	D;D;D;D	0.97110	0.978;1.0;1.0;1.0	D	0.95916	0.8927	10	0.87932	D	0	-20.5304	11.6415	0.51235	0.1335:0.0:0.8665:0.0	.	388;581;654;663	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	N	663;388;581;107	ENSP00000307491:K663N;ENSP00000445187:K388N;ENSP00000379557:K581N	ENSP00000307491:K663N	K	+	3	2	WDR48	39111193	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.071000	0.57556	0.707000	0.31934	0.655000	0.94253	AAG		PASS	0.418	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		18	33	18	33	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42681131	42681131	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:42681131G>T	ENST00000232978.8	+	13	4123	c.3935G>T	c.(3934-3936)aGg>aTg	p.R1312M	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1312	Arg/Ser tandem repeat-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R1312M(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGCCAGTCCAGGAGTCCAAGT	0.448																																						uc003clo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3934-3936)AGG>ATG		natural killer-tumor recognition sequence							94.0	86.0	89.0					3																	42681131		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42681131G>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3935G>T	3.37:g.42681131G>T	ENSP00000232978:p.Arg1312Met					NKTR_uc003clm.1_Missense_Mutation_p.R1059M|NKTR_uc003clp.2_Missense_Mutation_p.R1059M|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R1202M|NKTR_uc003clr.1_Missense_Mutation_p.R1059M|NKTR_uc003cls.2_Missense_Mutation_p.R1012M	p.R1312M	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	4082	+			1312			Arg/Ser tandem repeat-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.3935G>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093211	0.56075	.	.	ENSG00000114857	ENST00000232978	T	0.14766	2.48	5.35	4.42	0.53409	.	0.157859	0.53938	D	0.000054	T	0.39682	0.1087	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.921	T	0.34825	-0.9813	10	0.87932	D	0	-20.298	14.4253	0.67212	0.0:0.2689:0.7311:0.0	.	1012;1312	Q6M1B8;P30414	.;NKTR_HUMAN	M	1312	ENSP00000232978:R1312M	ENSP00000232978:R1312M	R	+	2	0	NKTR	42656135	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.940000	0.70187	2.663000	0.90544	0.655000	0.94253	AGG		PASS	0.448	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		5	53	5	53	---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44893441	44893441	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:44893441C>A	ENST00000326047.4	+	33	4118	c.3969C>A	c.(3967-3969)tcC>tcA	p.S1323S	KIF15_ENST00000425755.1_Silent_p.S958S	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1323					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S1323S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGAGAACATCCCAGGTGTGCT	0.383																																						uc003cnx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3967-3969)TCC>TCA		kinesin family member 15							118.0	107.0	111.0					3																	44893441		2203	4300	6503	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44893441C>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3969C>A	3.37:g.44893441C>A						KIF15_uc010hiq.2_Silent_p.S1226S|KIF15_uc010hir.2_Silent_p.S371S	p.S1323S	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	33	4118	+			1323			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.3969C>A	CCDS33744.1																																																																																				PASS	0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			6	70	6	70	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47465535	47465535	+	Splice_Site	SNP	G	G	T	rs199986589		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:47465535G>T	ENST00000265565.5	-	9	1450	c.1038C>A	c.(1036-1038)ggC>ggA	p.G346G	SCAP_ENST00000441517.2_Splice_Site_p.G91G|SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	346	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.G346G(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGAAAATCTCGCTGGGGACAG	0.567																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1036-1038)GGC>GGA		SREBF chaperone protein							78.0	60.0	66.0					3																	47465535		2203	4300	6503	SO:0001630	splice_region_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47465535G>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1038-1C>A	3.37:g.47465535G>T						SCAP_uc011baz.1_Silent_p.G91G|SCAP_uc003crg.2_5'UTR	p.G346G	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	9	1293	-			346			SSD.|Helical; Name=4; (Potential).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.1038C>A	CCDS2755.2																																																																																				PASS	0.567	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	Silent	6	7	6	7	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48717141	48717141	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:48717141G>T	ENST00000294129.2	-	8	1475	c.1356C>A	c.(1354-1356)caC>caA	p.H452Q	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.H452Q|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.H445Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	452	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)	p.H452Q(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGATGCTCGGTGTTCCTGGC	0.587																																						uc003cun.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1354-1356)CAC>CAA		NCK interacting protein with SH3 domain isoform							99.0	88.0	92.0					3																	48717141		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717141G>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1356C>A	3.37:g.48717141G>T	ENSP00000294129:p.His452Gln					NCKIPSD_uc003cum.2_Missense_Mutation_p.H445Q	p.H452Q	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	8	1450	-			452			Leu-rich.		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1356C>A	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.636087|3.636087	0.67130|0.67130	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129|ENST00000415281	T;T;T|.	0.63913|.	0.87;-0.07;-0.07|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.255124|.	0.31461|.	U|.	0.007606|.	T|T	0.72128|0.72128	0.3422|0.3422	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999978|0.999978	P;P|.	0.42692|.	0.682;0.787|.	B;B|.	0.43413|.	0.239;0.419|.	T|T	0.69487|0.69487	-0.5132|-0.5132	10|5	0.12103|.	T|.	0.63|.	.|.	18.6299|18.6299	0.91357|0.91357	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	452;445|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	Q|T	452;445;452|188	ENSP00000342621:H452Q;ENSP00000389059:H445Q;ENSP00000294129:H452Q|.	ENSP00000294129:H452Q|.	H|P	-|-	3|1	2|0	NCKIPSD|NCKIPSD	48692145|48692145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.650000|7.650000	0.83521|0.83521	2.694000|2.694000	0.91930|0.91930	0.655000|0.655000	0.94253|0.94253	CAC|CCG		PASS	0.587	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		20	14	20	14	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52525432	52525432	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:52525432C>A	ENST00000479054.1	+	21	3879	c.3807C>A	c.(3805-3807)ctC>ctA	p.L1269L	NISCH_ENST00000345716.4_Silent_p.L1269L			Q9Y2I1	NISCH_HUMAN	nischarin	1269					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.L1269L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ACTGCTTCCTCCAGCACCTCA	0.622																																						uc011beg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3805-3807)CTC>CTA		nischarin							92.0	68.0	76.0					3																	52525432		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525432C>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3807C>A	3.37:g.52525432C>A						NISCH_uc003ded.3_Silent_p.L1269L|NISCH_uc003dee.3_Silent_p.L758L|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.L18L	p.L1269L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	3879	+			1269					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3807C>A	CCDS33767.1																																																																																				PASS	0.622	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		10	10	10	10	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63973883	63973883	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:63973883A>T	ENST00000295900.6	+	9	1794	c.1244A>T	c.(1243-1245)cAt>cTt	p.H415L	ATXN7_ENST00000398590.3_Missense_Mutation_p.H415L|ATXN7_ENST00000484332.1_Missense_Mutation_p.H270L|ATXN7_ENST00000487717.1_Missense_Mutation_p.H415L|ATXN7_ENST00000538065.1_Missense_Mutation_p.H415L	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	415	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.H415L(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGGGACCCGCATCCCGCCCCT	0.512																																						uc003dlw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1243-1245)CAT>CTT		ataxin 7 isoform a							109.0	124.0	119.0					3																	63973883		1948	4135	6083	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973883A>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1244A>T	3.37:g.63973883A>T	ENSP00000295900:p.His415Leu					ATXN7_uc003dlv.2_Missense_Mutation_p.H415L|ATXN7_uc010hnv.2_Missense_Mutation_p.H415L|ATXN7_uc011bfn.1_Missense_Mutation_p.H270L	p.H415L	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1797	+		Prostate(884;0.0181)	415			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1244A>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.883589	0.33255	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.15139	2.45;2.46;2.46;2.45;2.45	5.95	4.77	0.60923	.	0.147065	0.64402	D	0.000009	T	0.13030	0.0316	L	0.47190	1.495	0.80722	D	1	B;P;B	0.41188	0.314;0.741;0.004	B;B;B	0.35312	0.098;0.2;0.027	T	0.03296	-1.1051	10	0.06891	T	0.86	-1.5855	13.1791	0.59645	0.8667:0.1333:0.0:0.0	.	270;415;415	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	L	415;415;415;415;270	ENSP00000381590:H415L;ENSP00000295900:H415L;ENSP00000420234:H415L;ENSP00000439585:H415L;ENSP00000428277:H270L	ENSP00000295900:H415L	H	+	2	0	ATXN7	63948923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.004000	0.70709	1.042000	0.40150	0.533000	0.62120	CAT		PASS	0.512	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		23	37	23	37	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100567705	100567705	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:100567705T>A	ENST00000284322.5	-	16	1499	c.1390A>T	c.(1390-1392)Aca>Tca	p.T464S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.T513S|ABI3BP_ENST00000383691.4_5'Flank|ABI3BP_ENST00000471714.1_Missense_Mutation_p.T513S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	464	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.T513S(1)|p.T464S(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGATAGATGTAGTTTGCTGG	0.398																																						uc003dun.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1390-1392)ACA>TCA		ABI gene family, member 3 (NESH) binding protein							146.0	143.0	144.0					3																	100567705		1817	4080	5897	SO:0001583	missense	25890					extracellular space		g.chr3:100567705T>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1390A>T	3.37:g.100567705T>A	ENSP00000284322:p.Thr464Ser					ABI3BP_uc003duo.2_Missense_Mutation_p.T506S|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank	p.T464S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			16	1475	-			464			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1390A>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.853113	0.71719	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T;T	0.58358	0.34;0.34;0.34	5.75	4.56	0.56223	.	0.344171	0.27946	N	0.017203	T	0.44222	0.1283	L	0.47716	1.5	0.80722	D	1	P;P	0.46142	0.873;0.622	P;B	0.44811	0.461;0.112	T	0.44982	-0.9292	10	0.02654	T	1	-6.9906	11.6037	0.51020	0.0:0.0:0.1491:0.8509	.	513;464	Q5JPC9;Q7Z7G0	.;TARSH_HUMAN	S	513;464;513	ENSP00000420524:T513S;ENSP00000284322:T464S;ENSP00000433993:T513S	ENSP00000284322:T464S	T	-	1	0	ABI3BP	102050395	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.288000	0.51739	1.078000	0.41014	0.528000	0.53228	ACA		PASS	0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			11	55	11	55	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109033356	109033356	+	Splice_Site	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:109033356C>A	ENST00000478945.1	-	2	280		c.e2+1			NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2						lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGAAACTTACCTTCTTGCTG	0.388																																						uc003dxo.2																			1	Unknown(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.e2+1		developmental pluripotency associated 2							138.0	128.0	132.0					3																	109033356		2203	4300	6503	SO:0001630	splice_region_variant	151871					nucleus	nucleic acid binding	g.chr3:109033356C>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.33+1G>T	3.37:g.109033356C>A							p.K11_splice	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			2	280	-								Q8WVF0	Splice_Site	SNP	ENST00000478945.1	37	c.33_splice	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772324	0.31411	.	.	ENSG00000163530	ENST00000478945	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5265	0.50582	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPPA2	110516046	0.936000	0.31750	0.913000	0.36048	0.076000	0.17211	2.745000	0.47459	2.438000	0.82558	0.655000	0.94253	.		PASS	0.388	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815	Intron	8	22	8	22	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119886143	119886143	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:119886143C>A	ENST00000464295.1	-	10	2626	c.2181G>T	c.(2179-2181)tgG>tgT	p.W727C	GPR156_ENST00000315843.3_Missense_Mutation_p.W727C|GPR156_ENST00000461057.1_Missense_Mutation_p.W723C			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	727						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.W727C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GCACTGGGGGCCACAGCTGCC	0.602																																						uc011bjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2179-2181)TGG>TGT		G protein-coupled receptor 156							37.0	43.0	41.0					3																	119886143		2203	4299	6502	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886143C>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2181G>T	3.37:g.119886143C>A	ENSP00000417261:p.Trp727Cys					GPR156_uc011bjg.1_Missense_Mutation_p.W723C	p.W727C	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	2181	-			727			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.2181G>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	8.468	0.856882	0.17106	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22743	1.94;1.94;1.94	4.6	0.296	0.15757	.	1.580310	0.03600	N	0.233245	T	0.11793	0.0287	N	0.22421	0.69	0.09310	N	1	B;B	0.32396	0.369;0.369	B;B	0.18561	0.022;0.022	T	0.20042	-1.0287	9	.	.	.	2.1321	4.2733	0.10797	0.4357:0.3701:0.1131:0.0811	.	723;727	E9PFZ4;Q8NFN8	.;GP156_HUMAN	C	727;727;723	ENSP00000417261:W727C;ENSP00000324553:W727C;ENSP00000418758:W723C	.	W	-	3	0	GPR156	121368833	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.237000	0.17985	0.236000	0.21180	0.462000	0.41574	TGG		PASS	0.602	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		4	15	4	15	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126185161	126185161	+	Silent	SNP	G	G	A	rs202194151		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:126185161G>A	ENST00000389709.3	-	5	1331	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	ZXDC_ENST00000336332.5_Silent_p.C426C	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	426					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C426C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGAACCTCGCGCAACATCCTG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20146	0.0		0.001	False		,,,				2504	0.0					uc003eiv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1276-1278)TGC>TGT		ZXD family zinc finger C isoform 1		G	,	1,4203		0,1,2101	55.0	59.0	58.0		1278,1278	2.9	1.0	3		58	0,8484		0,0,4242	no	coding-synonymous,coding-synonymous	ZXDC	NM_001040653.2,NM_025112.4	,	0,1,6343	AA,AG,GG		0.0,0.0238,0.0079	,	426/711,426/859	126185161	1,12687	2102	4242	6344	SO:0001819	synonymous_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126185161G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1278C>T	3.37:g.126185161G>A						ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.C426C	p.C426C	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	5	1332	-			426			C2H2-type 9.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	ENST00000389709.3	37	c.1278C>T	CCDS43145.1																																																																																				PASS	0.502	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		13	13	13	13	---	---	---	---
ACAD9	28976	broad.mit.edu	37	3	128627878	128627878	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:128627878C>A	ENST00000308982.7	+	14	1502	c.1421C>A	c.(1420-1422)tCc>tAc	p.S474Y	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	474						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.S474Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTCGGGACTCCCTGGGCCGA	0.582																																						uc003ela.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1420-1422)TCC>TAC		acyl-Coenzyme A dehydrogenase family, member 9							65.0	60.0	61.0					3																	128627878		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128627878C>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1421C>A	3.37:g.128627878C>A	ENSP00000312618:p.Ser474Tyr					ACAD9_uc010hsw.1_3'UTR|ACAD9_uc011bks.1_Missense_Mutation_p.S351Y|ACAD9_uc003elb.2_Missense_Mutation_p.S351Y|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.S126Y	p.S474Y	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			14	1623	+			474					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1421C>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	C	6.340	0.430913	0.12045	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.88201	-2.35	5.56	2.57	0.30868	.	0.588107	0.18916	N	0.127615	D	0.85097	0.5619	M	0.71581	2.175	0.09310	N	0.999999	B	0.31485	0.325	B	0.29267	0.1	T	0.74839	-0.3528	10	0.38643	T	0.18	.	6.9414	0.24494	0.0:0.5968:0.2189:0.1842	.	474	Q9H845	ACAD9_HUMAN	Y	474;341	ENSP00000312618:S474Y	ENSP00000312618:S474Y	S	+	2	0	ACAD9	130110568	0.002000	0.14202	0.122000	0.21767	0.020000	0.10135	0.423000	0.21313	0.691000	0.31592	-0.137000	0.14449	TCC		PASS	0.582	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		6	22	6	22	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134873037	134873037	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:134873037G>T	ENST00000398015.3	+	6	1711	c.1341G>T	c.(1339-1341)atG>atT	p.M447I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M8I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	447	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.M447I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTGCCACTATGAGGAGCATCA	0.542																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1339-1341)ATG>ATT		ephrin receptor EphB1 precursor							183.0	194.0	190.0					3																	134873037		2191	4297	6488	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873037G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1341G>T	3.37:g.134873037G>T	ENSP00000381097:p.Met447Ile					EPHB1_uc003equ.2_Missense_Mutation_p.M8I	p.M447I	NM_004441	NP_004432	P54762	EPHB1_HUMAN			6	1561	+			447			Fibronectin type-III 2.|Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1341G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104515	0.56291	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.56776	0.44;0.44	5.0	4.13	0.48395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.136994	0.64402	D	0.000005	T	0.39682	0.1087	N	0.19112	0.55	0.80722	D	1	P	0.35124	0.485	B	0.37550	0.253	T	0.33137	-0.9880	10	0.41790	T	0.15	.	12.9105	0.58177	0.079:0.0:0.921:0.0	.	447	P54762	EPHB1_HUMAN	I	447;8	ENSP00000381097:M447I;ENSP00000419574:M8I	ENSP00000381097:M447I	M	+	3	0	EPHB1	136355727	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.511000	0.73733	1.346000	0.45694	0.655000	0.94253	ATG		PASS	0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		6	114	6	114	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012966	151012966	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:151012966G>C	ENST00000260843.4	-	3	532	c.68C>G	c.(67-69)tCa>tGa	p.S23*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	23					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.S23*(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGTTGCCTGAATTGTGACT	0.502																																						uc003eyt.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(67-69)TCA>TGA		G protein-coupled receptor 87							75.0	73.0	73.0					3																	151012966		2203	4300	6503	SO:0001587	stop_gained	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012966G>C	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.68C>G	3.37:g.151012966G>C	ENSP00000260843:p.Ser23*					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.S23*	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	429	-			23			Extracellular (Potential).		Q5KU35|Q96JZ8|Q9BXC2	Nonsense_Mutation	SNP	ENST00000260843.4	37	c.68C>G	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303132	0.95601	.	.	ENSG00000138271	ENST00000260843	.	.	.	5.31	3.51	0.40186	.	0.746815	0.11924	N	0.516358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-0.0329	9.723	0.40315	0.1618:0.0:0.8382:0.0	.	.	.	.	X	23	.	ENSP00000260843:S23X	S	-	2	0	GPR87	152495656	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.958000	0.29227	0.728000	0.32382	0.655000	0.94253	TCA		PASS	0.502	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			10	101	10	101	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906744	164906744	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:164906744G>T	ENST00000475390.1	-	2	2318	c.1875C>A	c.(1873-1875)gcC>gcA	p.A625A	SLITRK3_ENST00000241274.3_Silent_p.A625A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	625					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A625A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCCAGGCTGGGCTGGGGATT	0.547										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1873-1875)GCC>GCA		slit and trk like 3 protein precursor							34.0	36.0	35.0					3																	164906744		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906744G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1875C>A	3.37:g.164906744G>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.A625A	p.A625A	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2319	-			625			Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1875C>A	CCDS3197.1																																																																																				PASS	0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		37	19	37	19	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906901	164906901	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:164906901A>T	ENST00000475390.1	-	2	2161	c.1718T>A	c.(1717-1719)tTt>tAt	p.F573Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.F573Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	573	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.F573Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCACTGTTTAAAGGGGACCAG	0.522										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1717-1719)TTT>TAT		slit and trk like 3 protein precursor							100.0	91.0	94.0					3																	164906901		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906901A>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1718T>A	3.37:g.164906901A>T	ENSP00000420091:p.Phe573Tyr	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.F573Y	p.F573Y	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2162	-			573			LRRCT 2.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1718T>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771718	0.49680	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54866	0.55;0.55	5.81	5.81	0.92471	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.39146	N	0.001457	T	0.49881	0.1583	L	0.48260	1.515	0.44728	D	0.997725	B	0.14012	0.009	B	0.17098	0.017	T	0.47341	-0.9125	10	0.87932	D	0	-7.9292	16.1295	0.81418	1.0:0.0:0.0:0.0	.	573	O94933	SLIK3_HUMAN	Y	573	ENSP00000420091:F573Y;ENSP00000241274:F573Y	ENSP00000241274:F573Y	F	-	2	0	SLITRK3	166389595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.343000	0.79666	0.533000	0.62120	TTT		PASS	0.522	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		91	28	91	28	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189509	167189509	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:167189509G>T	ENST00000476257.1	-	3	412	c.114C>A	c.(112-114)tcC>tcA	p.S38S	SERPINI2_ENST00000471111.1_Silent_p.S38S|SERPINI2_ENST00000264677.4_Silent_p.S38S|SERPINI2_ENST00000461846.1_Silent_p.S38S|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	38					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S38S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TATGAGATAAGGAAACCTCTT	0.393																																						uc003fer.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|urinary_tract(1)	3						c.(112-114)TCC>TCA		serpin peptidase inhibitor, clade I (pancpin),							156.0	156.0	156.0					3																	167189509		2203	4300	6503	SO:0001819	synonymous_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189509G>T	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.114C>A	3.37:g.167189509G>T						SERPINI2_uc003fes.1_Silent_p.S48S|SERPINI2_uc003fet.1_Silent_p.S38S	p.S38S	NM_006217	NP_006208	O75830	SPI2_HUMAN			1	172	-			38						Silent	SNP	ENST00000476257.1	37	c.114C>A	CCDS3200.1																																																																																				PASS	0.393	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		8	201	8	201	---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167543034	167543034	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:167543034G>T	ENST00000295777.5	+	9	1587		c.e9-1		SERPINI1_ENST00000488374.1_Splice_Site|SERPINI1_ENST00000446050.2_Splice_Site	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1						cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AACCAATACAGGTACAATTCT	0.313																																						uc003ffa.3																			1	Unknown(1)		lung(1)	skin(1)	1						c.e9-1		neuroserpin precursor							110.0	113.0	112.0					3																	167543034		2203	4300	6503	SO:0001630	splice_region_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167543034G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.1157-1G>T	3.37:g.167543034G>T						SERPINI1_uc003ffb.3_Splice_Site_p.G386_splice	p.G386_splice	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			9	1355	+								A8K217|D3DNP1|Q6AHZ4	Splice_Site	SNP	ENST00000295777.5	37	c.1157_splice	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936222	0.34189	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979;ENST00000466865	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6272	0.91344	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINI1	169025728	1.000000	0.71417	0.966000	0.40874	0.246000	0.25737	7.558000	0.82253	2.688000	0.91661	0.591000	0.81541	.		PASS	0.313	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		Intron	8	171	8	171	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168810787	168810787	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:168810787G>C	ENST00000464456.1	-	12	3732	c.2532C>G	c.(2530-2532)aaC>aaG	p.N844K	MECOM_ENST00000460814.1_Missense_Mutation_p.N844K|MECOM_ENST00000494292.1_Missense_Mutation_p.N1032K|MECOM_ENST00000468789.1_Missense_Mutation_p.N853K|MECOM_ENST00000264674.3_Missense_Mutation_p.N918K|MECOM_ENST00000433243.2_Missense_Mutation_p.N854K|MECOM_ENST00000472280.1_Missense_Mutation_p.N854K|MECOM_ENST00000392736.3_Missense_Mutation_p.N853K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N853K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGGTTGCTGTTCCCAATGA	0.413																																						uc003ffi.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2557-2559)AAC>AAG		MDS1 and EVI1 complex locus isoform b							123.0	111.0	115.0					3																	168810787		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168810787G>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2532C>G	3.37:g.168810787G>C	ENSP00000419770:p.Asn844Lys					MECOM_uc010hwk.1_Missense_Mutation_p.N867K|MECOM_uc003ffj.3_Missense_Mutation_p.N918K|MECOM_uc011bpi.1_Missense_Mutation_p.N845K|MECOM_uc003ffn.3_Missense_Mutation_p.N853K|MECOM_uc003ffk.2_Missense_Mutation_p.N844K|MECOM_uc003ffl.2_Missense_Mutation_p.N1004K|MECOM_uc011bpj.1_Missense_Mutation_p.N1041K|MECOM_uc011bpk.1_Missense_Mutation_p.N843K	p.N853K	NM_005241	NP_005232	Q03112	EVI1_HUMAN			13	2828	-			853					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2559C>G	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186408	0.38609	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06142	3.38;3.39;3.34;3.48;3.35;3.39;3.34;3.48	5.41	-5.79	0.02354	.	0.290766	0.29653	N	0.011551	T	0.12774	0.0310	L	0.36672	1.1	0.53688	D	0.999979	P;D;P;D;P	0.89917	0.946;1.0;0.705;1.0;0.833	P;D;P;D;P	0.85130	0.74;0.997;0.632;0.997;0.554	T	0.00005	-1.2531	10	0.44086	T	0.13	-20.6033	16.5031	0.84262	0.2969:0.0:0.7031:0.0	.	1041;845;1032;918;853	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	918;853;844;854;1032;853;844;854	ENSP00000264674:N918K;ENSP00000376493:N853K;ENSP00000419770:N844K;ENSP00000420048:N854K;ENSP00000417899:N1032K;ENSP00000419995:N853K;ENSP00000420466:N844K;ENSP00000394302:N854K	ENSP00000264674:N918K	N	-	3	2	MECOM	170293481	0.993000	0.37304	0.957000	0.39632	0.110000	0.19582	0.331000	0.19733	-0.961000	0.03609	-0.459000	0.05422	AAC		PASS	0.413	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		7	98	7	98	---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172520750	172520750	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:172520750C>A	ENST00000392692.3	+	20	2262	c.2086C>A	c.(2086-2088)Ctc>Atc	p.L696I	ECT2_ENST00000417960.1_Missense_Mutation_p.L664I|ECT2_ENST00000427830.1_Missense_Mutation_p.L665I|ECT2_ENST00000540509.1_Missense_Mutation_p.L696I|ECT2_ENST00000232458.5_Missense_Mutation_p.L665I|ECT2_ENST00000441497.2_Missense_Mutation_p.L665I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	696	PH.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.L665I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AACTCTCTTCCTCTTCAATGA	0.378																																						uc003fii.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(1993-1995)CTC>ATC		epithelial cell transforming sequence 2 oncogene							76.0	75.0	76.0					3																	172520750		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172520750C>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2086C>A	3.37:g.172520750C>A	ENSP00000376457:p.Leu696Ile					ECT2_uc010hwv.1_Missense_Mutation_p.L696I|ECT2_uc003fih.2_Missense_Mutation_p.L664I|ECT2_uc003fij.1_Missense_Mutation_p.L665I|ECT2_uc003fik.1_Missense_Mutation_p.L665I|ECT2_uc003fil.1_Missense_Mutation_p.L696I|ECT2_uc003fim.1_5'UTR	p.L665I	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		19	2131	+	Ovarian(172;0.00197)|Breast(254;0.158)		665			PH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1993C>A	CCDS58860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861237|4.861237	0.91433|0.91433	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509|ENST00000437296	T;T;T;T;T;T|.	0.68765|.	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Pleckstrin homology-type (1);Pleckstrin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76343|0.76343	0.3974|0.3974	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.69078|.	0.995;0.995;0.985;0.997;0.997|.	P;P;P;D;D|.	0.63877|.	0.831;0.831;0.868;0.919;0.919|.	T|T	0.72235|0.72235	-0.4352|-0.4352	10|5	0.40728|.	T|.	0.16|.	-9.7094|-9.7094	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	696;141;696;665;664|.	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2|.	ECT2_HUMAN;.;.;.;.|.	I|H	665;696;665;664;665;696|35	ENSP00000232458:L665I;ENSP00000376457:L696I;ENSP00000401910:L665I;ENSP00000415876:L664I;ENSP00000412259:L665I;ENSP00000443160:L696I|.	ENSP00000232458:L665I|.	L|P	+|+	1|2	0|0	ECT2|ECT2	174003444|174003444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.232000|7.232000	0.78116|0.78116	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTC|CCT		PASS	0.378	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		7	150	7	150	---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176743300	176743300	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:176743300C>G	ENST00000430069.1	-	16	1790	c.1531G>C	c.(1531-1533)Gac>Cac	p.D511H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D511H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	511					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D511H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTCCGAAGGTCTAATACACAA	0.348																																						uc003fiw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1531-1533)GAC>CAC		transducin (beta)-like 1 X-linked receptor 1							78.0	70.0	73.0					3																	176743300		1844	4088	5932	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176743300C>G	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1531G>C	3.37:g.176743300C>G	ENSP00000405574:p.Asp511His					TBL1XR1_uc003fix.3_Missense_Mutation_p.D511H|TBL1XR1_uc011bpz.1_Missense_Mutation_p.D183H	p.D511H	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		16	1791	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	511			WD 8.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.1531G>C	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225583	0.58668	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.62105	0.05;0.05	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.80423	0.4620	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.80951	-0.1153	9	0.62326	D	0.03	-6.5677	19.2962	0.94122	0.0:1.0:0.0:0.0	.	511	Q9BZK7	TBL1R_HUMAN	H	511;511;373	ENSP00000405574:D511H;ENSP00000413251:D511H	ENSP00000405574:D511H	D	-	1	0	TBL1XR1	178225994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.795000	0.96236	0.655000	0.94253	GAC		PASS	0.348	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		19	64	19	64	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180320739	180320739	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:180320739G>T	ENST00000296015.4	+	2	354	c.222G>T	c.(220-222)ctG>ctT	p.L74L	TTC14_ENST00000382584.4_Silent_p.L74L|TTC14_ENST00000412756.2_Silent_p.L74L|RP11-496B10.3_ENST00000472596.1_lincRNA	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	74							RNA binding (GO:0003723)	p.L74L(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCGGATCTGCTTTTTGCAC	0.343																																						uc003fkk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(220-222)CTG>CTT		tetratricopeptide repeat domain 14 isoform a							53.0	55.0	55.0					3																	180320739		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180320739G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.222G>T	3.37:g.180320739G>T						TTC14_uc003fkl.2_Silent_p.L74L|TTC14_uc003fkm.2_Silent_p.L74L	p.L74L	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		2	354	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		74					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.222G>T	CCDS3237.1																																																																																				PASS	0.343	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		91	19	91	19	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180372659	180372659	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:180372659C>T	ENST00000442201.2	-	7	940	c.821G>A	c.(820-822)gGg>gAg	p.G274E	CCDC39_ENST00000273654.4_Missense_Mutation_p.G358E	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	274					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.G358E(1)|p.G274E(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGTGTTATTCCCAATCTCACT	0.333																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(820-822)GGG>GAG		coiled-coil domain containing 39							156.0	135.0	141.0					3																	180372659		1807	4073	5880	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180372659C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.821G>A	3.37:g.180372659C>T	ENSP00000405708:p.Gly274Glu					CCDC39_uc003fkn.2_RNA	p.G274E	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	936	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		274					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.821G>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	2.865	-0.235240	0.05983	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.77098	-1.07;-0.64	5.5	3.65	0.41850	.	0.393392	0.28958	N	0.013583	T	0.46927	0.1418	N	0.03209	-0.39	0.22858	N	0.998647	B	0.12013	0.005	B	0.09377	0.004	T	0.39683	-0.9602	10	0.02654	T	1	-11.0487	6.6628	0.23024	0.1396:0.6472:0.0:0.2133	.	274	Q9UFE4	CCD39_HUMAN	E	358;274	ENSP00000273654:G358E;ENSP00000405708:G274E	ENSP00000273654:G358E	G	-	2	0	CCDC39	181855353	0.739000	0.28196	1.000000	0.80357	0.985000	0.73830	0.936000	0.28938	1.420000	0.47138	0.563000	0.77884	GGG		PASS	0.333	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		5	63	5	63	---	---	---	---
CRYGS	1427	broad.mit.edu	37	3	186256664	186256664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:186256664C>A	ENST00000392499.2	-	4	697	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CRYGS_ENST00000307944.5_Nonsense_Mutation_p.E120*	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	120	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)	p.E120*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TGAAATTGCTCCATGATGGAA	0.478																																						uc003fqe.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(358-360)GAG>TAG		crystallin, gamma S							91.0	84.0	86.0					3																	186256664		2203	4300	6503	SO:0001587	stop_gained	1427						structural constituent of eye lens	g.chr3:186256664C>A		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.358G>T	3.37:g.186256664C>A	ENSP00000376287:p.Glu120*					CRYGS_uc003fqf.2_Nonsense_Mutation_p.E120*	p.E120*	NM_017541	NP_060011	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	3	410	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		120			Beta/gamma crystallin 'Greek key' 3.		B2RAF8	Nonsense_Mutation	SNP	ENST00000392499.2	37	c.358G>T	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	C	36	5.782495	0.96937	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000312099:E120X	E	-	1	0	CRYGS	187739358	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.815000	0.86186	2.825000	0.97269	0.655000	0.94253	GAG		PASS	0.478	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		8	64	8	64	---	---	---	---
AHSG	197	broad.mit.edu	37	3	186338633	186338633	+	Missense_Mutation	SNP	C	C	A	rs573820635		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:186338633C>A	ENST00000273784.5	+	7	1097	c.1021C>A	c.(1021-1023)Cgc>Agc	p.R341S	AHSG_ENST00000411641.2_Missense_Mutation_p.R340S	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	340					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.R340S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGGAAAACACGCACAGTGGT	0.602																																						uc003fqk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)CGC>AGC		alpha-2-HS-glycoprotein							82.0	78.0	79.0					3																	186338633		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338633C>A	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.1021C>A	3.37:g.186338633C>A	ENSP00000273784:p.Arg341Ser					AHSG_uc003fql.3_Missense_Mutation_p.R341S|AHSG_uc003fqm.3_Missense_Mutation_p.R339S|AHSG_uc010hyp.2_Missense_Mutation_p.R303S	p.R340S	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1099	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		340					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.1018C>A		.	.	.	.	.	.	.	.	.	.	c	10.03	1.238536	0.22711	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.04862	3.54;3.54	4.63	2.77	0.32553	.	0.972799	0.08447	N	0.944617	T	0.06280	0.0162	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26512	0.151;0.094;0.057	B;B;B	0.25987	0.065;0.018;0.018	T	0.42481	-0.9449	10	0.48119	T	0.1	-0.6739	11.6385	0.51217	0.0:0.6541:0.3459:0.0	.	406;340;341	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	S	340;406;341	ENSP00000393887:R340S;ENSP00000273784:R341S	ENSP00000273784:R341S	R	+	1	0	AHSG	187821327	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.546000	0.36179	0.619000	0.30197	-0.302000	0.09304	CGC		PASS	0.602	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		9	57	9	57	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193183867	193183867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:193183867C>A	ENST00000342695.4	-	11	1541	c.1219G>T	c.(1219-1221)Gga>Tga	p.G407*	ATP13A4_ENST00000392443.3_Intron|ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.G407*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	407						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G407*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTGGCTGTTCCTACAAGGCAC	0.458																																						uc003ftd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1219-1221)GGA>TGA		ATPase type 13A4							232.0	210.0	217.0					3																	193183867		2203	4300	6503	SO:0001587	stop_gained	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193183867C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1219G>T	3.37:g.193183867C>A	ENSP00000339182:p.Gly407*					ATP13A4_uc003fte.1_Nonsense_Mutation_p.G407*|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Nonsense_Mutation_p.G113*	p.G407*	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	11	1327	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		407			Helical; (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.1219G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	42	9.535305	0.99198	.	.	ENSG00000127249	ENST00000342695;ENST00000295548	.	.	.	5.85	5.85	0.93711	.	0.156824	0.43919	D	0.000502	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.8165	19.1516	0.93491	0.0:1.0:0.0:0.0	.	.	.	.	X	407	.	ENSP00000295548:G407X	G	-	1	0	ATP13A4	194666561	0.015000	0.18098	0.980000	0.43619	0.895000	0.52256	2.621000	0.46418	2.773000	0.95371	0.655000	0.94253	GGA		PASS	0.458	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		9	246	9	246	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193349400	193349400	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr3:193349400G>T	ENST00000392438.3	+	6	858		c.e6-1		OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361510.2_Splice_Site|OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site|OPA1_ENST00000361828.2_Splice_Site	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.?(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TAAACATTTAGGTGTCAGACA	0.279																																						uc003ftm.2																			1	Unknown(1)		lung(1)		0						c.e6-1		optic atrophy 1 isoform 1							50.0	59.0	56.0					3																	193349400		2203	4295	6498	SO:0001630	splice_region_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193349400G>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.625-1G>T	3.37:g.193349400G>T						OPA1_uc003ftg.2_Splice_Site_p.V264_splice|OPA1_uc003fth.2_Splice_Site_p.V228_splice|OPA1_uc003fti.2_Splice_Site_p.V246_splice|OPA1_uc003ftj.2_Splice_Site_p.V227_splice|OPA1_uc003ftk.2_Splice_Site_p.V210_splice|OPA1_uc003ftl.2_Splice_Site_p.V191_splice|OPA1_uc003ftn.2_Splice_Site_p.V173_splice	p.V209_splice	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	6	859	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)							D3DNW4	Splice_Site	SNP	ENST00000392438.3	37	c.625_splice	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343539	0.82022	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000434811	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.157	0.89694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPA1	194832094	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.517000	0.98020	2.703000	0.92315	0.655000	0.94253	.		PASS	0.279	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	Intron	6	113	6	113	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	502758	502758	+	Splice_Site	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:502758C>T	ENST00000453061.2	+	5	1006	c.900C>T	c.(898-900)ccC>ccT	p.P300P	PIGG_ENST00000383028.4_Splice_Site_p.P167P|PIGG_ENST00000536264.1_Splice_Site_p.P178P|PIGG_ENST00000503111.1_Splice_Site_p.P211P|PIGG_ENST00000509768.1_Splice_Site_p.P211P|PIGG_ENST00000310340.5_Splice_Site_p.P300P|PIGG_ENST00000296306.7_Splice_Site_p.P211P|PIGG_ENST00000504346.1_Splice_Site_p.P211P	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	300					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.P300P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AAAGGAAACCCGGTGAGAATT	0.393																																						uc003gak.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(898-900)CCC>CCT		phosphatidylinositol glycan anchor biosynthesis,							66.0	66.0	66.0					4																	502758		2203	4300	6503	SO:0001630	splice_region_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:502758C>T		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.901+1C>T	4.37:g.502758C>T						PIGG_uc003gaj.3_Silent_p.P300P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.P167P|PIGG_uc003gal.3_Silent_p.P211P|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.P178P|PIGG_uc003gam.2_Silent_p.P211P|PIGG_uc003gan.2_Silent_p.P211P	p.P300P	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			5	1036	+			300			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.900C>T	CCDS46992.1																																																																																				PASS	0.393	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733	Silent	28	11	28	11	---	---	---	---
TNIP2	79155	broad.mit.edu	37	4	2746619	2746619	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:2746619G>A	ENST00000315423.7	-	4	797	c.711C>T	c.(709-711)taC>taT	p.Y237Y	TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000510267.1_Silent_p.Y130Y|TNIP2_ENST00000505186.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2									p.Y237Y(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCCCCTCACGTATTCGTCCC	0.597																																						uc003gfg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(709-711)TAC>TAT		A20-binding inhibitor of NF-kappaB activation 2							52.0	49.0	50.0					4																	2746619		2203	4300	6503	SO:0001819	synonymous_variant	79155					cytosol	protein binding	g.chr4:2746619G>A	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.711C>T	4.37:g.2746619G>A						TNIP2_uc003gff.2_Silent_p.Y130Y|TNIP2_uc003gfh.2_Intron	p.Y237Y	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	798	-			237						Silent	SNP	ENST00000315423.7	37	c.711C>T	CCDS3362.1																																																																																				PASS	0.597	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		7	21	7	21	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8609097	8609097	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:8609097A>T	ENST00000360986.4	+	7	1346	c.1172A>T	c.(1171-1173)gAc>gTc	p.D391V	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.D254V|CPZ_ENST00000315782.6_Missense_Mutation_p.D380V	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	391					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D391V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACCCCTTCGACTTCTCCAAG	0.602											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1171-1173)GAC>GTC		carboxypeptidase Z isoform 1							126.0	107.0	113.0					4																	8609097		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8609097A>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1172A>T	4.37:g.8609097A>T	ENSP00000354255:p.Asp391Val		OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	650	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.D254V|CPZ_uc003glo.2_Missense_Mutation_p.D380V|CPZ_uc003glp.2_RNA	p.D391V	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			7	1298	+			391					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.1172A>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	a	23.8	4.464465	0.84425	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03831	3.79;3.79;3.79	4.01	4.01	0.46588	Peptidase M14, carboxypeptidase A (2);	0.053243	0.64402	D	0.000001	T	0.31544	0.0800	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49634	-0.8919	10	0.87932	D	0	-45.2183	12.9706	0.58510	1.0:0.0:0.0:0.0	.	380;391	Q66K79-2;Q66K79	.;CBPZ_HUMAN	V	391;254;380	ENSP00000354255:D391V;ENSP00000371920:D254V;ENSP00000315074:D380V	ENSP00000315074:D380V	D	+	2	0	CPZ	8659997	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.360000	0.90095	1.459000	0.47892	0.370000	0.22315	GAC		PASS	0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		18	9	18	9	---	---	---	---
C1QTNF7	114905	broad.mit.edu	37	4	15437385	15437385	+	Silent	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:15437385T>C	ENST00000444304.2	+	2	344	c.18T>C	c.(16-18)taT>taC	p.Y6Y	C1QTNF7_ENST00000429690.1_Silent_p.Y6Y|C1QTNF7_ENST00000295297.4_Silent_p.Y13Y			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	6					protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.Y6Y(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCTTGCTCTATGTTACAAGTT	0.463																																						uc011bxb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)TAT>TAC		C1q and tumor necrosis factor related protein 7							107.0	100.0	103.0					4																	15437385		2203	4300	6503	SO:0001819	synonymous_variant	114905					collagen		g.chr4:15437385T>C	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.18T>C	4.37:g.15437385T>C						C1QTNF7_uc003gno.2_Silent_p.Y13Y|C1QTNF7_uc003gnp.2_Silent_p.Y6Y	p.Y6Y	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN			2	245	+			6					B2RBT3|J3KPW3	Silent	SNP	ENST00000444304.2	37	c.18T>C	CCDS3414.1																																																																																				PASS	0.463	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			25	24	25	24	---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20852248	20852248	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:20852248C>A	ENST00000382152.2	-	3	373	c.206G>T	c.(205-207)cGg>cTg	p.R69L	KCNIP4_ENST00000382150.4_Missense_Mutation_p.R48L|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R35L|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R44L|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R7L|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R7L	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	69	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R44L(1)|p.R69L(1)|p.R35L(1)|p.R48L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GGCTTCAGGCCGATGCCTGAC	0.473																																						uc003gqe.2																			4	Substitution - Missense(4)		lung(4)		0						c.(154-156)CGG>CTG		Kv channel interacting protein 4 isoform 3							70.0	70.0	70.0					4																	20852248		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20852248C>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.206G>T	4.37:g.20852248C>A	ENSP00000371587:p.Arg69Leu					KCNIP4_uc003gqf.1_Missense_Mutation_p.R48L|KCNIP4_uc003gqg.1_Missense_Mutation_p.R7L|KCNIP4_uc003gqh.1_Missense_Mutation_p.R44L|KCNIP4_uc003gqi.1_Missense_Mutation_p.R7L|KCNIP4_uc010iel.2_Missense_Mutation_p.R49L|KCNIP4_uc003gqd.3_Missense_Mutation_p.R32L	p.R52L	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN			2	239	-		Breast(46;0.134)	69			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.155G>T	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213817	0.95104	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.67865	-0.29;2.02;-0.29;2.02;-0.29;-0.29	5.42	5.42	0.78866	.	0.228508	0.44688	D	0.000434	T	0.81664	0.4870	M	0.84326	2.69	0.80722	D	1	D;P;D;D	0.69078	0.99;0.87;0.99;0.997	P;B;P;P	0.58520	0.636;0.202;0.636;0.84	D	0.84666	0.0709	10	0.87932	D	0	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	44;48;52;69	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	L	44;35;48;7;69;7;7	ENSP00000371583:R44L;ENSP00000399080:R35L;ENSP00000371585:R48L;ENSP00000371587:R69L;ENSP00000423257:R7L;ENSP00000351892:R7L	ENSP00000351892:R7L	R	-	2	0	KCNIP4	20461346	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.851000	0.69481	2.521000	0.84997	0.655000	0.94253	CGG		PASS	0.473	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		16	19	16	19	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22750521	22750521	+	RNA	SNP	C	C	G	rs199835681		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:22750521C>G	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.A382G(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGTGACCCAGCGCCTCTTGAT	0.373																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1144-1146)GCG>GGG		cytosolic beta-glucosidase isoform a							43.0	40.0	41.0					4																	22750521		1817	4072	5889			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22750521C>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22750521C>G						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.A383G	p.A382G	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			4	1236	+			382					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.1145C>G																																																																																					PASS	0.373	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			8	6	8	6	---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23886493	23886493	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:23886493G>C	ENST00000264867.2	-	2	235	c.116C>G	c.(115-117)tCt>tGt	p.S39C	PPARGC1A_ENST00000509702.1_5'Flank|PPARGC1A_ENST00000507380.1_Missense_Mutation_p.S39C	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	39					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.S39C(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATCTAGTTCAGAAAGATCAAG	0.428																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(115-117)TCT>TGT		peroxisome proliferator-activated receptor							81.0	76.0	77.0					4																	23886493		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23886493G>C	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.116C>G	4.37:g.23886493G>C	ENSP00000264867:p.Ser39Cys					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_RNA|PPARGC1A_uc003gqu.3_Missense_Mutation_p.S39C	p.S39C	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			2	236	-		Breast(46;0.0503)	39					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.116C>G	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934821	0.92458	.	.	ENSG00000109819	ENST00000264867;ENST00000507380	T	0.48201	0.82	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.99	T	0.74503	-0.3644	10	0.87932	D	0	-9.3799	20.6439	0.99570	0.0:0.0:1.0:0.0	.	39;39	D6RBF3;Q9UBK2	.;PRGC1_HUMAN	C	39	ENSP00000264867:S39C	ENSP00000264867:S39C	S	-	2	0	PPARGC1A	23495591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.011000	0.93618	2.884000	0.98904	0.655000	0.94253	TCT		PASS	0.428	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		15	11	15	11	---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24541881	24541881	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:24541881G>T	ENST00000336812.4	-	10	1792	c.1636C>A	c.(1636-1638)Ctg>Atg	p.L546M	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	546					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.L546M(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AAAGCAGCCAGGTAATTCAAA	0.418																																						uc003gqx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1636-1638)CTG>ATG		DEAH (Asp-Glu-Ala-His) box polypeptide 15							116.0	121.0	119.0					4																	24541881		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24541881G>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1636C>A	4.37:g.24541881G>T	ENSP00000336741:p.Leu546Met					DHX15_uc003gqw.2_5'Flank	p.L546M	NM_001358	NP_001349	O43143	DHX15_HUMAN			10	1804	-		Breast(46;0.0503)	546					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.1636C>A	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301153	0.81136	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.51574	0.7	6.17	5.32	0.75619	Helicase-associated domain (2);	0.000000	0.64402	D	0.000001	T	0.77818	0.4187	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84958	0.0875	10	0.87932	D	0	-10.8927	14.6874	0.69059	0.0698:0.0:0.9302:0.0	.	546	O43143	DHX15_HUMAN	M	546;535	ENSP00000336741:L546M	ENSP00000336741:L546M	L	-	1	2	DHX15	24150979	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.524000	0.60552	1.598000	0.50083	0.655000	0.94253	CTG		PASS	0.418	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		6	58	6	58	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49034612	49034612	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:49034612T>A	ENST00000226432.4	+	12	1721	c.1538T>A	c.(1537-1539)gTg>gAg	p.V513E	CWH43_ENST00000513409.1_Missense_Mutation_p.V486E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	513					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.V513E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TACCCAATTGTGAAATCTGAG	0.468																																						uc003gyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1537-1539)GTG>GAG		cell wall biogenesis 43 C-terminal homolog							272.0	236.0	248.0					4																	49034612		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49034612T>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1538T>A	4.37:g.49034612T>A	ENSP00000226432:p.Val513Glu					CWH43_uc011bzl.1_Missense_Mutation_p.V486E	p.V513E	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			12	1720	+			513					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1538T>A	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776744	0.49786	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.33216	1.42;1.42	5.24	5.24	0.73138	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.52532	D	0.000063	T	0.44074	0.1276	L	0.49455	1.56	0.50039	D	0.99984	D	0.56746	0.977	P	0.58873	0.847	T	0.21042	-1.0257	9	.	.	.	.	13.5294	0.61613	0.0:0.0:0.0:1.0	.	513	Q9H720	PG2IP_HUMAN	E	513;486	ENSP00000226432:V513E;ENSP00000422802:V486E	.	V	+	2	0	CWH43	48729369	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	4.949000	0.63596	2.210000	0.71456	0.459000	0.35465	GTG		PASS	0.468	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		96	82	96	82	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66197847	66197847	+	Splice_Site	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:66197847C>T	ENST00000273854.3	-	17	3453		c.e17-1		EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.?(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTAGATACTCTAAAACACAT	0.338										TSP Lung(17;0.13)																												uc003hcy.2																			1	Unknown(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.e17-1		ephrin receptor EphA5 isoform a precursor							40.0	37.0	38.0					4																	66197847		2203	4297	6500	SO:0001630	splice_region_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197847C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2853-1G>A	4.37:g.66197847C>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Splice_Site_p.R883_splice|EPHA5_uc003hcz.2_Splice_Site_p.R929_splice|EPHA5_uc011cah.1_Splice_Site_p.R952_splice|EPHA5_uc011cai.1_Splice_Site_p.R930_splice|EPHA5_uc003hda.2_Intron	p.R951_splice	NM_004439	NP_004430	P54756	EPHA5_HUMAN			17	3046	-								Q7Z3F2	Splice_Site	SNP	ENST00000273854.3	37	c.2853_splice	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901865	0.52227	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4921	0.95054	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA5	65880442	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.517000	0.81783	2.697000	0.92050	0.491000	0.48974	.		PASS	0.338	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	Intron	8	18	8	18	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66467453	66467453	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:66467453G>T	ENST00000273854.3	-	3	1416	c.816C>A	c.(814-816)ccC>ccA	p.P272P	EPHA5_ENST00000511294.1_Silent_p.P272P|EPHA5_ENST00000354839.4_Silent_p.P272P|EPHA5_ENST00000432638.2_Silent_p.P272P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	272	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.P272P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGTGCATTTTGGGAGGTTCAT	0.522										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(814-816)CCC>CCA		ephrin receptor EphA5 isoform a precursor							82.0	80.0	80.0					4																	66467453		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467453G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.816C>A	4.37:g.66467453G>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.P203P|EPHA5_uc003hcz.2_Silent_p.P272P|EPHA5_uc011cah.1_Silent_p.P272P|EPHA5_uc011cai.1_Silent_p.P272P|EPHA5_uc003hda.2_Silent_p.P272P	p.P272P	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	1009	-			272			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.816C>A	CCDS3513.1																																																																																				PASS	0.522	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		13	33	13	33	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73963958	73963958	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:73963958C>G	ENST00000358602.4	-	26	4969	c.4853G>C	c.(4852-4854)aGg>aCg	p.R1618T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1505T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1367T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1618	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1618T(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGGAAATCCTCATGTTATC	0.473																																						uc003hgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(4852-4854)AGG>ACG		ankyrin repeat domain protein 17 isoform a							328.0	267.0	288.0					4																	73963958		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73963958C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4853G>C	4.37:g.73963958C>G	ENSP00000351416:p.Arg1618Thr					ANKRD17_uc003hgo.2_Missense_Mutation_p.R1505T|ANKRD17_uc003hgq.2_Missense_Mutation_p.R1367T|ANKRD17_uc003hgr.2_Missense_Mutation_p.R1617T	p.R1618T	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	4970	-	Breast(15;0.000295)		1618			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4853G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700865	0.68501	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.21191	2.02;2.02;2.02	5.65	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.36672	1.1	0.34376	D	0.692526	P;P;P;P	0.46512	0.879;0.557;0.808;0.808	B;B;B;B	0.33960	0.173;0.107;0.084;0.084	T	0.25363	-1.0134	10	0.45353	T	0.12	.	14.9798	0.71303	0.0:0.9302:0.0:0.0698	.	1617;1367;1618;1505	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	T	1618;1025;1367;1505;2	ENSP00000351416:R1618T;ENSP00000332265:R1367T;ENSP00000427151:R1505T	ENSP00000332265:R1367T	R	-	2	0	ANKRD17	74182822	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.329000	0.52060	2.669000	0.90835	0.591000	0.81541	AGG		PASS	0.473	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		54	113	54	113	---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84403359	84403359	+	Missense_Mutation	SNP	C	C	G	rs569414094		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:84403359C>G	ENST00000321945.7	-	2	234	c.126G>C	c.(124-126)aaG>aaC	p.K42N	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_5'UTR|FAM175A_ENST00000515303.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	42	MPN-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)	p.K42N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TAATGCTGTTCTTGGCTTCAC	0.328																																						uc003hou.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(124-126)AAG>AAC		coiled-coil domain containing 98							112.0	105.0	107.0					4																	84403359		1853	4092	5945	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84403359C>G	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.126G>C	4.37:g.84403359C>G	ENSP00000369857:p.Lys42Asn					FAM175A_uc003hov.2_5'UTR	p.K42N	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN			2	191	-			42			MPN-like.		A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.126G>C	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936196	0.52972	.	.	ENSG00000163322	ENST00000321945	T	0.47177	0.85	5.47	3.65	0.41850	.	0.316712	0.37577	N	0.002024	T	0.54287	0.1849	L	0.45581	1.43	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.48151	-0.9060	10	0.23891	T	0.37	-15.0141	9.5443	0.39271	0.0:0.7558:0.0:0.2442	.	42	Q6UWZ7	F175A_HUMAN	N	42	ENSP00000369857:K42N	ENSP00000369857:K42N	K	-	3	2	FAM175A	84622383	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	0.675000	0.25232	1.223000	0.43536	0.591000	0.81541	AAG		PASS	0.328	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		7	58	7	58	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85553014	85553014	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:85553014G>T	ENST00000295887.5	+	6	1046	c.623G>T	c.(622-624)cGt>cTt	p.R208L		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.R208L(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)		AAACATTATCGTCTGCAGTTT	0.328																																						uc011ccv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|breast(1)	4						c.(622-624)CGT>CTT		CDP-diacylglycerol synthase 1							238.0	232.0	234.0					4																	85553014		2202	4300	6502	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85553014G>T	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.623G>T	4.37:g.85553014G>T	ENSP00000295887:p.Arg208Leu					CDS1_uc010ike.1_Missense_Mutation_p.R12L	p.R208L	NM_001263	NP_001254	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	6	1121	+		Hepatocellular(203;0.114)	208					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.623G>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394835	0.25205	.	.	ENSG00000163624	ENST00000295887	T	0.48201	0.82	5.93	5.93	0.95920	.	0.106984	0.64402	D	0.000005	T	0.46328	0.1387	L	0.43646	1.37	0.80722	D	1	B	0.16603	0.018	B	0.27076	0.076	T	0.27088	-1.0084	10	0.21540	T	0.41	-12.0729	20.3465	0.98790	0.0:0.0:1.0:0.0	.	208	Q92903	CDS1_HUMAN	L	208	ENSP00000295887:R208L	ENSP00000295887:R208L	R	+	2	0	CDS1	85772038	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.837000	0.99465	2.798000	0.96311	0.655000	0.94253	CGT		PASS	0.328	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			30	87	30	87	---	---	---	---
NUDT9	53343	broad.mit.edu	37	4	88356326	88356326	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:88356326G>A	ENST00000302174.4	+	2	625	c.301G>A	c.(301-303)Gca>Aca	p.A101T	NUDT9_ENST00000473942.1_Missense_Mutation_p.A51T	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	101					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.A101T(1)		endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GGAATACACTGCAGTCTCTGT	0.483																																						uc003hqq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GCA>ACA		nudix-type motif 9 isoform a							85.0	86.0	86.0					4																	88356326		2203	4300	6503	SO:0001583	missense	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88356326G>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.301G>A	4.37:g.88356326G>A	ENSP00000303575:p.Ala101Thr					NUDT9_uc003hqr.2_Missense_Mutation_p.A51T|NUDT9_uc010ikl.2_Missense_Mutation_p.A101T	p.A101T	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	2	624	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	101					Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000302174.4	37	c.301G>A	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410897	0.83340	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942;ENST00000440591	T;T;T;T	0.75589	-0.95;-0.95;-0.95;2.44	4.94	4.94	0.65067	NUDIX hydrolase domain-like (1);	0.055196	0.64402	D	0.000001	D	0.86414	0.5927	M	0.90309	3.105	0.58432	D	0.999994	D;D	0.69078	0.995;0.997	P;P	0.62560	0.904;0.885	D	0.88790	0.3277	10	0.72032	D	0.01	-13.616	12.4645	0.55751	0.0:0.0:0.8333:0.1667	.	101;101	Q96KB3;Q9BW91	.;NUDT9_HUMAN	T	101;51;51;101	ENSP00000303575:A101T;ENSP00000424702:A51T;ENSP00000421811:A51T;ENSP00000410270:A101T	ENSP00000303575:A101T	A	+	1	0	NUDT9	88575350	0.987000	0.35691	0.996000	0.52242	0.959000	0.62525	4.558000	0.60789	2.438000	0.82558	0.467000	0.42956	GCA		PASS	0.483	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			16	54	16	54	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90857906	90857906	+	Silent	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:90857906G>C	ENST00000394980.1	+	7	3394	c.3075G>C	c.(3073-3075)ctG>ctC	p.L1025L	MMRN1_ENST00000508372.1_Silent_p.L767L|MMRN1_ENST00000264790.2_Silent_p.L1025L|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	1025					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.L1025L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCACAGTCCTGATAGGCCGGA	0.348																																						uc003hst.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(3073-3075)CTG>CTC		multimerin 1							53.0	57.0	56.0					4																	90857906		2109	4138	6247	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857906G>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3075G>C	4.37:g.90857906G>C						MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.L767L	p.L1025L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	3146	+		Hepatocellular(203;0.114)	1025					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.3075G>C	CCDS3635.1																																																																																				PASS	0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		23	51	23	51	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111470983	111470983	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:111470983A>T	ENST00000265162.5	+	17	2784	c.2442A>T	c.(2440-2442)caA>caT	p.Q814H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	814					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q814H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CATTAGCTCAAGAAAAAGAAA	0.363																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(2440-2442)CAA>CAT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						76.0	78.0	77.0					4																	111470983		2202	4300	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111470983A>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2442A>T	4.37:g.111470983A>T	ENSP00000265162:p.Gln814His						p.Q814H	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	17	2784	+		Hepatocellular(203;0.217)	814			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2442A>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673704	0.67928	.	.	ENSG00000138792	ENST00000265162	T	0.05717	3.4	5.27	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	M	0.66378	2.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.00151	-1.1985	10	0.46703	T	0.11	.	9.277	0.37705	0.8529:0.0:0.1471:0.0	.	814	Q07075	AMPE_HUMAN	H	814	ENSP00000265162:Q814H	ENSP00000265162:Q814H	Q	+	3	2	ENPEP	111690432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.996000	0.29719	0.342000	0.23796	0.533000	0.62120	CAA		PASS	0.363	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			20	39	20	39	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123122179	123122179	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:123122179A>T	ENST00000264501.4	+	15	1769	c.1396A>T	c.(1396-1398)Agc>Tgc	p.S466C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S466C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S466C			Q2LD37	K1109_HUMAN	KIAA1109	466					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S466C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATCAATGCCAGCTACCCCCG	0.393																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1396-1398)AGC>TGC		fragile site-associated protein							96.0	88.0	91.0					4																	123122179		1910	4145	6055	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123122179A>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1396A>T	4.37:g.123122179A>T	ENSP00000264501:p.Ser466Cys					KIAA1109_uc003iei.1_Missense_Mutation_p.S220C|KIAA1109_uc010ins.1_5'UTR	p.S466C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			13	1441	+			466					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.1396A>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.56|16.56	3.156272|3.156272	0.57259|0.57259	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|D;D;D	.|0.94184	.|-3.37;-3.37;-3.37	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|2.914460	.|0.02396	.|U	.|0.080160	D|D	0.91640|0.91640	0.7358|0.7358	L|L	0.40543|0.40543	1.245|1.245	0.46586|0.46586	D|D	0.999119|0.999119	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.67868|0.67868	-0.5559|-0.5559	5|10	.|0.38643	.|T	.|0.18	.|.	12.0504|12.0504	0.53503|0.53503	0.871:0.0:0.0:0.129|0.871:0.0:0.0:0.129	.|.	.|466	.|Q2LD37	.|K1109_HUMAN	L|C	298|466	.|ENSP00000264501:S466C;ENSP00000373390:S466C;ENSP00000389925:S466C	.|ENSP00000264501:S466C	Q|S	+|+	2|1	0|0	KIAA1109|KIAA1109	123341629|123341629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.290000|7.290000	0.78711|0.78711	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	CAG|AGC		PASS	0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		13	29	13	29	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126402738	126402738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:126402738C>T	ENST00000394329.3	+	15	12674	c.12661C>T	c.(12661-12663)Cag>Tag	p.Q4221*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q2462*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4221	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.Q4221*(1)|p.Q4221K(1)|p.Q4164*(1)|p.Q4164K(1)		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						CCACATGAGTCAGAATGAGAA	0.438																																						uc003ifj.3																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		cervix(2)|lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12661-12663)CAG>TAG		FAT tumor suppressor homolog 4 precursor							120.0	117.0	118.0					4																	126402738		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126402738C>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.12661C>T	4.37:g.126402738C>T	ENSP00000377862:p.Gln4221*					FAT4_uc011cgp.1_Nonsense_Mutation_p.Q2462*|FAT4_uc003ifi.1_Nonsense_Mutation_p.Q1699*	p.Q4221*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			15	12661	+			4221			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.12661C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	53	21.591493	0.99941	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	4.91	4.06	0.47325	.	0.260319	0.19711	U	0.107816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.0255	0.53368	0.0:0.9162:0.0:0.0838	.	.	.	.	X	4221;2462	.	ENSP00000335169:Q2462X	Q	+	1	0	FAT4	126622188	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	7.142000	0.77339	1.056000	0.40484	0.585000	0.79938	CAG		PASS	0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	62	18	62	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143003250	143003250	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:143003250G>C	ENST00000513000.1	-	26	3009	c.2576C>G	c.(2575-2577)tCa>tGa	p.S859*	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.S859*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.S859*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.S859*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.S859*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	859					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.S859*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTCAAGATTGAGCATTGTTC	0.398																																						uc003iix.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2575-2577)TCA>TGA		inositol polyphosphate-4-phosphatase, type II,							148.0	130.0	136.0					4																	143003250		2203	4300	6503	SO:0001587	stop_gained	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003250G>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2576C>G	4.37:g.143003250G>C	ENSP00000425487:p.Ser859*					INPP4B_uc003iiw.3_Nonsense_Mutation_p.S859*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.S674*|INPP4B_uc011cho.1_RNA	p.S859*	NM_003866	NP_003857	O15327	INP4B_HUMAN			26	3171	-	all_hematologic(180;0.158)		859					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	SNP	ENST00000513000.1	37	c.2576C>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	38	6.908701	0.97928	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838	.	.	.	6.06	6.06	0.98353	.	0.260739	0.39759	N	0.001265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	.	.	.	X	859;859;859;859;859;674	.	ENSP00000262992:S859X	S	-	2	0	INPP4B	143222700	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	6.171000	0.71926	2.880000	0.98712	0.650000	0.86243	TCA		PASS	0.398	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		13	53	13	53	---	---	---	---
NR3C2	4306	broad.mit.edu	37	4	149357659	149357659	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:149357659G>T	ENST00000358102.3	-	2	716	c.354C>A	c.(352-354)tcC>tcA	p.S118S	NR3C2_ENST00000355292.3_Silent_p.S118S|NR3C2_ENST00000512865.1_Silent_p.S118S|NR3C2_ENST00000344721.4_Silent_p.S118S|NR3C2_ENST00000511528.1_Silent_p.S118S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	118	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S118S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCTGCTCATAGGAATAGTCAG	0.398																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(352-354)TCC>TCA		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						100.0	97.0	98.0					4																	149357659		2203	4300	6503	SO:0001819	synonymous_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357659G>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.354C>A	4.37:g.149357659G>T						NR3C2_uc003ilk.3_Silent_p.S118S|NR3C2_uc010iph.2_RNA	p.S118S	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	688	-	all_hematologic(180;0.151)		118			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.354C>A	CCDS3772.1																																																																																				PASS	0.398	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			6	76	6	76	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154557706	154557706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:154557706C>A	ENST00000409663.3	+	35	4860	c.4808C>A	c.(4807-4809)tCg>tAg	p.S1603*	KIAA0922_ENST00000440693.1_Nonsense_Mutation_p.S1520*|KIAA0922_ENST00000409959.3_Nonsense_Mutation_p.S1604*	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1603						integral component of membrane (GO:0016021)		p.S1604*(1)|p.S1456*(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCTAGAGACTCGAGTTACTGT	0.398																																						uc003inm.3																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4807-4809)TCG>TAG		hypothetical protein LOC23240 isoform 2							86.0	84.0	85.0					4																	154557706		2203	4300	6503	SO:0001587	stop_gained	23240					integral to membrane		g.chr4:154557706C>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4808C>A	4.37:g.154557706C>A	ENSP00000386574:p.Ser1603*					KIAA0922_uc010ipp.2_Nonsense_Mutation_p.S1604*|KIAA0922_uc010ipq.2_Nonsense_Mutation_p.S1372*	p.S1603*	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			35	4860	+	all_hematologic(180;0.093)	Renal(120;0.118)	1603			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Nonsense_Mutation	SNP	ENST00000409663.3	37	c.4808C>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	40	8.338656	0.98767	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.83	5.83	0.93111	.	0.131881	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0348	20.1152	0.97926	0.0:1.0:0.0:0.0	.	.	.	.	X	1603;1520;1604;1381	.	ENSP00000240487:S1381X	S	+	2	0	KIAA0922	154777156	1.000000	0.71417	0.985000	0.45067	0.659000	0.38960	7.205000	0.77881	2.750000	0.94351	0.655000	0.94253	TCG		PASS	0.398	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		4	69	4	69	---	---	---	---
NPY2R	4887	broad.mit.edu	37	4	156135450	156135450	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr4:156135450C>G	ENST00000329476.3	+	2	848	c.359C>G	c.(358-360)cCt>cGt	p.P120R	NPY2R_ENST00000506608.1_Missense_Mutation_p.P120R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	120					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.P120R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	AAAATGGGTCCTGTCCTGTGC	0.517																																						uc003ioq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(358-360)CCT>CGT		neuropeptide Y receptor Y2							67.0	68.0	67.0					4																	156135450		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135450C>G	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.359C>G	4.37:g.156135450C>G	ENSP00000332591:p.Pro120Arg					NPY2R_uc003ior.2_Missense_Mutation_p.P120R	p.P120R	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	854	+	all_hematologic(180;0.24)	Renal(120;0.0854)	120			Extracellular (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.359C>G	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	6.685	0.494971	0.12702	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70749	-0.51;-0.51	5.44	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.640222	0.17149	N	0.185139	T	0.47985	0.1475	N	0.04387	-0.21	0.33517	D	0.591889	B	0.21381	0.055	B	0.20384	0.029	T	0.52953	-0.8506	10	0.17369	T	0.5	.	13.5439	0.61690	0.0:0.9249:0.0:0.0751	.	120	P49146	NPY2R_HUMAN	R	120	ENSP00000332591:P120R;ENSP00000426366:P120R	ENSP00000332591:P120R	P	+	2	0	NPY2R	156354900	0.023000	0.18921	0.786000	0.31890	0.497000	0.33675	2.243000	0.43115	1.435000	0.47434	0.643000	0.83706	CCT		PASS	0.517	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		6	23	6	23	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32101345	32101345	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:32101345G>T	ENST00000438447.1	+	24	8741	c.8353G>T	c.(8353-8355)Ggt>Tgt	p.G2785C	CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000282493.3_Splice_Site_p.G2785C|PDZD2_ENST00000513490.1_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2	2785	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G2785C(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTGTACAAAGGTAATGTTCT	0.448																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(8353-8355)GGT>TGT		PDZ domain containing 2							115.0	111.0	113.0					5																	32101345		2203	4300	6503	SO:0001630	splice_region_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32101345G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8353+1G>T	5.37:g.32101345G>T						PDZD2_uc003jhm.2_Missense_Mutation_p.G2785C|PDZD2_uc003jhn.2_RNA	p.G2785C	NM_178140	NP_835260	O15018	PDZD2_HUMAN			24	8741	+			2785			PDZ 6.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.8353G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255203	0.80135	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.43294	0.95;0.95	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.56097	D	0.000030	T	0.77405	0.4125	H	0.97291	3.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.85795	0.1370	10	0.87932	D	0	.	16.5945	0.84792	0.0:0.0:1.0:0.0	.	2785	O15018	PDZD2_HUMAN	C	2785;2586;2785	ENSP00000402033:G2785C;ENSP00000282493:G2785C	ENSP00000282493:G2785C	G	+	1	0	PDZD2	32137102	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.026000	0.88783	2.504000	0.84457	0.655000	0.94253	GGT		PASS	0.448	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		Missense_Mutation	5	29	5	29	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37293025	37293025	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:37293025C>T	ENST00000231498.3	-	34	4196	c.3993G>A	c.(3991-3993)ttG>ttA	p.L1331L	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.L1267L|NUP155_ENST00000381843.2_Silent_p.L1272L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1331					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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 pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.L1331L(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATCTTATCAATAATACAT	0.303																																						uc003jku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3991-3993)TTG>TTA		nucleoporin 155kDa isoform 1							85.0	97.0	93.0					5																	37293025		2203	4291	6494	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37293025C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3993G>A	5.37:g.37293025C>T						NUP155_uc003jkt.1_Silent_p.L1272L|NUP155_uc010iuz.1_Silent_p.L1267L	p.L1331L	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4111	-	all_lung(31;0.000137)		1331					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.3993G>A	CCDS3921.1																																																																																				PASS	0.303	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		13	57	13	57	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38350668	38350668	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:38350668G>T	ENST00000354891.3	+	4	703	c.357G>T	c.(355-357)caG>caT	p.Q119H	EGFLAM_ENST00000322350.5_Missense_Mutation_p.Q119H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	119	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.Q119H(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTTACAGCCAGGCTGGCAAAG	0.478																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(355-357)CAG>CAT		EGF-like, fibronectin type III and laminin G							114.0	105.0	108.0					5																	38350668		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38350668G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.357G>T	5.37:g.38350668G>T	ENSP00000346964:p.Gln119His					EGFLAM_uc003jlb.1_Missense_Mutation_p.Q119H	p.Q119H	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			4	681	+	all_lung(31;0.000385)		119			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.357G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134877	0.56828	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57752	0.38;0.38	4.92	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.380247	0.28834	N	0.013981	T	0.53384	0.1793	L	0.46741	1.465	0.80722	D	1	P;P	0.52061	0.95;0.938	P;P	0.51355	0.667;0.537	T	0.50800	-0.8785	10	0.44086	T	0.13	-4.0506	10.1486	0.42780	0.1047:0.0:0.8953:0.0	.	119;119	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	H	119	ENSP00000346964:Q119H;ENSP00000313084:Q119H	ENSP00000313084:Q119H	Q	+	3	2	EGFLAM	38386425	0.781000	0.28676	0.944000	0.38274	0.862000	0.49288	1.713000	0.37951	0.901000	0.36495	0.462000	0.41574	CAG		PASS	0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		10	43	10	43	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852638	40852638	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:40852638C>A	ENST00000254691.5	+	3	1403	c.1204C>A	c.(1204-1206)Cag>Aag	p.Q402K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	402					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.Q402K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTATCAGTGCCAGTTTGCTCT	0.453																																						uc003jmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1204-1206)CAG>AAG		caspase recruitment domain family, member 6							73.0	70.0	71.0					5																	40852638		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852638C>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1204C>A	5.37:g.40852638C>A	ENSP00000254691:p.Gln402Lys						p.Q402K	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1279	+			402					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1204C>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682342	0.47991	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	T	0.55930	0.49	5.49	2.67	0.31697	.	1.203030	0.05872	N	0.624793	T	0.52661	0.1748	M	0.72894	2.215	0.80722	D	1	B	0.21381	0.055	B	0.17433	0.018	T	0.42085	-0.9472	10	0.52906	T	0.07	0.3299	6.7454	0.23458	0.143:0.7015:0.0:0.1555	.	402	Q9BX69	CARD6_HUMAN	K	402	ENSP00000254691:Q402K	ENSP00000254691:Q402K	Q	+	1	0	CARD6	40888395	1.000000	0.71417	0.898000	0.35279	0.997000	0.91878	1.343000	0.33930	0.392000	0.25172	0.655000	0.94253	CAG		PASS	0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			22	31	22	31	---	---	---	---
C6	729	broad.mit.edu	37	5	41172358	41172358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:41172358G>T	ENST00000263413.3	-	9	1524	c.1260C>A	c.(1258-1260)tgC>tgA	p.C420*	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Nonsense_Mutation_p.C420*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	420	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.C420*(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTGGTGGTGCACCTATGTT	0.428																																						uc003jmk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1258-1260)TGC>TGA		complement component 6 precursor							342.0	270.0	295.0					5																	41172358		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41172358G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1260C>A	5.37:g.41172358G>T	ENSP00000263413:p.Cys420*					C6_uc003jml.1_Nonsense_Mutation_p.C420*	p.C420*	NM_000065	NP_000056	P13671	CO6_HUMAN			9	1470	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	420			MACPF.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1260C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	38	7.117145	0.98074	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.04	-2.95	0.05564	.	0.044361	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6997	12.2868	0.54797	0.5444:0.0:0.4556:0.0	.	.	.	.	X	420	.	ENSP00000263413:C420X	C	-	3	2	C6	41208115	0.211000	0.23529	0.180000	0.23079	0.371000	0.29859	-0.639000	0.05446	-0.590000	0.05866	-0.137000	0.14449	TGC		PASS	0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			15	34	15	34	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382435	41382435	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:41382435T>A	ENST00000377801.3	-	2	379	c.305A>T	c.(304-306)aAg>aTg	p.K102M	PLCXD3_ENST00000328457.3_Missense_Mutation_p.K102M			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	102	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.K102M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTCTCTGGGCTTGGTGGAAAT	0.448																																						uc003jmm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(304-306)AAG>ATG		phosphatidylinositol-specific phospholipase C, X							79.0	83.0	82.0					5																	41382435		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382435T>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.305A>T	5.37:g.41382435T>A	ENSP00000367032:p.Lys102Met						p.K102M	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	407	-			102			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.305A>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360438	0.82353	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	L	0.58925	1.835	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73817	-0.3863	9	0.34782	T	0.22	-14.2015	16.6407	0.85098	0.0:0.0:0.0:1.0	.	102	Q63HM9	PLCX3_HUMAN	M	102	.	ENSP00000333751:K102M	K	-	2	0	PLCXD3	41418192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.326000	0.78906	0.533000	0.62120	AAG		PASS	0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		22	25	22	25	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382437	41382437	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:41382437G>A	ENST00000377801.3	-	2	377	c.303C>T	c.(301-303)acC>acT	p.T101T	PLCXD3_ENST00000328457.3_Silent_p.T101T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	101	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.T101T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTCTGGGCTTGGTGGAAATTC	0.448																																						uc003jmm.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(301-303)ACC>ACT		phosphatidylinositol-specific phospholipase C, X							78.0	82.0	81.0					5																	41382437		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382437G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.303C>T	5.37:g.41382437G>A							p.T101T	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	405	-			101			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.303C>T	CCDS34150.1																																																																																				PASS	0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		22	26	22	26	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43506176	43506176	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:43506176G>T	ENST00000306862.2	-	4	981	c.606C>A	c.(604-606)atC>atA	p.I202I	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	202								p.I202I(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGGATTTCATGATCTGGCAAT	0.373																																						uc003jnz.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(604-606)ATC>ATA		hypothetical protein LOC375444							102.0	103.0	102.0					5																	43506176		2203	4300	6503	SO:0001819	synonymous_variant	375444							g.chr5:43506176G>T	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.606C>A	5.37:g.43506176G>T						C5orf34_uc011cpx.1_Silent_p.I88I	p.I202I	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			5	923	-	Lung NSC(6;2.07e-05)		202						Silent	SNP	ENST00000306862.2	37	c.606C>A	CCDS3946.1																																																																																				PASS	0.373	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		31	58	31	58	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65349881	65349881	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:65349881G>T	ENST00000284037.5	+	21	3124	c.2735G>T	c.(2734-2736)aGg>aTg	p.R912M	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R912M|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R908M|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R912M|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R912M|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R912M|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R912M|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R912M|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R912M	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	912					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.R912M(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AATATAGTCAGGAGCAAGTCT	0.383																																						uc003juk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(2734-2736)AGG>ATG		ERBB2 interacting protein isoform 2							546.0	525.0	532.0					5																	65349881		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349881G>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2735G>T	5.37:g.65349881G>T	ENSP00000284037:p.Arg912Met					ERBB2IP_uc003jui.1_Missense_Mutation_p.R912M|ERBB2IP_uc003juj.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqx.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqy.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.R908M|ERBB2IP_uc003jul.1_Missense_Mutation_p.R908M	p.R912M	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3043	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	912					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.2735G>T	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636698	0.67130	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.76060	-0.78;-0.77;-0.73;-0.51;-0.99;-0.47;-0.76;-0.72;-0.99	6.08	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	L	0.46157	1.445	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;P;D;D	0.91635	0.999;0.998;0.998;0.997;0.87;0.999;0.998	T	0.82766	-0.0295	10	0.49607	T	0.09	.	15.3893	0.74729	0.0665:0.0:0.9335:0.0	.	912;912;912;908;912;912;912	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	M	912;912;912;912;912;912;908;912;912	ENSP00000284037:R912M;ENSP00000370330:R912M;ENSP00000370326:R912M;ENSP00000370323:R912M;ENSP00000370322:R912M;ENSP00000370325:R912M;ENSP00000422766:R908M;ENSP00000426632:R912M;ENSP00000422015:R912M	ENSP00000284037:R912M	R	+	2	0	ERBB2IP	65385637	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.230000	0.95299	1.587000	0.49959	0.655000	0.94253	AGG		PASS	0.383	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		11	516	11	516	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495083	71495083	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:71495083C>T	ENST00000296755.7	+	5	6199	c.5901C>T	c.(5899-5901)ccC>ccT	p.P1967P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1967					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P1967P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAGCCCCCCCGAAGTGAGTG	0.478																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5899-5901)CCC>CCT		microtubule-associated protein 1B							68.0	74.0	72.0					5																	71495083		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495083C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901C>T	5.37:g.71495083C>T						MAP1B_uc010iyw.1_Silent_p.P1984P|MAP1B_uc010iyx.1_Silent_p.P1841P|MAP1B_uc010iyy.1_Silent_p.P1841P	p.P1967P	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6142	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1967			MAP1B 6.		A2BDK5	Silent	SNP	ENST00000296755.7	37	c.5901C>T	CCDS4012.1																																																																																				PASS	0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		47	29	47	29	---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80554960	80554960	+	Nonsense_Mutation	SNP	C	C	T	rs375003065		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:80554960C>T	ENST00000424301.2	+	9	1139	c.901C>T	c.(901-903)Cga>Tga	p.R301*	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Nonsense_Mutation_p.R301*|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Nonsense_Mutation_p.R301*|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	301	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.R301*(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AATCCAAGAACGAGGCTGGGA	0.473																																						uc003khc.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(901-903)CGA>TGA		sarcomeric mitochondrial creatine kinase	Creatine(DB00148)	C	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	229.0	210.0	216.0		901,901,901	4.4	1.0	5		216	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	CKMT2	NM_001099735.1,NM_001099736.1,NM_001825.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	301/420,301/420,301/420	80554960	1,13005	2203	4300	6503	SO:0001587	stop_gained	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80554960C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.901C>T	5.37:g.80554960C>T	ENSP00000404203:p.Arg301*					RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Nonsense_Mutation_p.R301*|CKMT2_uc003khd.3_Nonsense_Mutation_p.R301*|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	p.R301*	NM_001825	NP_001816	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	9	1143	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	301			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Nonsense_Mutation	SNP	ENST00000424301.2	37	c.901C>T	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378292	0.95945	2.27E-4	0.0	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	.	.	.	5.29	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-26.5395	12.9575	0.58438	0.2949:0.7051:0.0:0.0	.	.	.	.	X	301	.	ENSP00000254035:R301X	R	+	1	2	CKMT2	80590716	0.981000	0.34729	0.999000	0.59377	0.790000	0.44656	2.453000	0.44970	1.209000	0.43321	-0.293000	0.09583	CGA		PASS	0.473	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		39	46	39	46	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89999498	89999498	+	Missense_Mutation	SNP	C	C	G	rs371019516	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:89999498C>G	ENST00000405460.2	+	35	8268	c.8172C>G	c.(8170-8172)ttC>ttG	p.F2724L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2724	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F2724L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTACAATTCCATGTGATAA	0.328																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(8170-8172)TTC>TTG		G protein-coupled receptor 98 precursor							57.0	53.0	54.0					5																	89999498		1805	4071	5876	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89999498C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8172C>G	5.37:g.89999498C>G	ENSP00000384582:p.Phe2724Leu					GPR98_uc003kjt.2_Missense_Mutation_p.F430L|GPR98_uc003kjv.2_Missense_Mutation_p.F324L	p.F2724L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	35	8268	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2724			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8172C>G	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.511|0.511	-0.866582|-0.866582	0.02590|0.02590	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.26223|.	1.75|.	4.94|4.94	1.16|1.16	0.20824|0.20824	.|.	0.214234|.	0.50627|.	N|.	0.000120|.	T|T	0.28797|0.28797	0.0714|0.0714	N|N	0.04018|0.04018	-0.295|-0.295	0.80722|0.80722	D|D	1|1	B;B|.	0.16396|.	0.017;0.009|.	B;B|.	0.15484|.	0.013;0.009|.	T|T	0.03587|0.03587	-1.1022|-1.1022	10|5	0.13470|.	T|.	0.59|.	.|.	9.7726|9.7726	0.40598|0.40598	0.0:0.7151:0.0:0.2849|0.0:0.7151:0.0:0.2849	.|.	2724;2724|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	L|C	2724|290	ENSP00000384582:F2724L|.	ENSP00000296619:F2724L|.	F|S	+|+	3|2	2|0	GPR98|GPR98	90035254|90035254	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.585000|0.585000	0.36419|0.36419	0.423000|0.423000	0.21313|0.21313	0.301000|0.301000	0.22738|0.22738	-0.142000|-0.142000	0.14014|0.14014	TTC|TCC		PASS	0.328	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	4	3	4	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208255	140208255	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:140208255G>A	ENST00000529310.1	+	1	693	c.579G>A	c.(577-579)ggG>ggA	p.G193G	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.G193G|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G193G(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAATTGGGCTCTTATTAA	0.428																																						uc003lho.2																			2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(577-579)GGG>GGA		protocadherin alpha 6 isoform 1 precursor							67.0	72.0	70.0					5																	140208255		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208255G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.579G>A	5.37:g.140208255G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.G193G|PCDHA6_uc011dab.1_Silent_p.G193G	p.G193G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	606	+			193			Cadherin 2.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.579G>A	CCDS47281.1																																																																																				PASS	0.428	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		28	31	28	31	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558864	140558864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:140558864G>T	ENST00000239444.2	+	1	1494	c.1249G>T	c.(1249-1251)Gag>Tag	p.E417*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E417*(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCAGAGCCGAGTACAACGT	0.507																																						uc011dai.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)	4						c.(1249-1251)GAG>TAG		protocadherin beta 8 precursor							155.0	188.0	177.0					5																	140558864		2203	4300	6503	SO:0001587	stop_gained	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558864G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1249G>T	5.37:g.140558864G>T	ENSP00000239444:p.Glu417*					PCDHB16_uc003liv.2_5'Flank	p.E417*	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1435	+			417			Cadherin 4.|Extracellular (Potential).		B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.1249G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936634	0.52972	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.25	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.9438	0.35747	0.0:0.2838:0.5674:0.1488	.	.	.	.	X	417	.	ENSP00000239444:E417X	E	+	1	0	PCDHB8	140539048	0.000000	0.05858	0.211000	0.23655	0.006000	0.05464	-0.169000	0.09911	1.911000	0.55334	0.585000	0.79938	GAG		PASS	0.507	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		10	205	10	205	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590630	140590630	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:140590630C>A	ENST00000239450.2	+	1	2340	c.2151C>A	c.(2149-2151)agC>agA	p.S717R	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S380R|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	717					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S717R(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGAGGAGCAGGGCGGCCC	0.662																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2149-2151)AGC>AGA		protocadherin beta 12 precursor							70.0	80.0	76.0					5																	140590630		2203	4296	6499	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590630C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2151C>A	5.37:g.140590630C>A	ENSP00000239450:p.Ser717Arg					PCDHB12_uc011dak.1_Missense_Mutation_p.S380R|PCDHB13_uc003lja.1_5'Flank	p.S717R	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2340	+			717			Cytoplasmic (Potential).		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2151C>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	c	9.673	1.147158	0.21288	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.15603	2.41;2.41	3.46	2.46	0.29980	.	.	.	.	.	T	0.17662	0.0424	M	0.64630	1.985	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.23868	-1.0176	9	0.15499	T	0.54	.	11.3912	0.49815	0.0:0.7432:0.2568:0.0	.	717	Q9Y5F1	PCDBC_HUMAN	R	380;717;337	ENSP00000440199:S380R;ENSP00000239450:S717R	ENSP00000239450:S717R	S	+	3	2	PCDHB12	140570814	0.000000	0.05858	0.002000	0.10522	0.244000	0.25665	-0.523000	0.06230	1.660000	0.50760	0.479000	0.44913	AGC		PASS	0.662	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		27	33	27	33	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146778759	146778759	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:146778759G>T	ENST00000398514.3	-	11	1538	c.1167C>A	c.(1165-1167)gcC>gcA	p.A389A	DPYSL3_ENST00000534907.1_Silent_p.A15A|DPYSL3_ENST00000343218.5_Silent_p.A503A|CTB-108O6.2_ENST00000607270.1_RNA	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	389					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.A389A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATCTTGGCAGCGTTTG	0.448																																						uc003lon.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1165-1167)GCC>GCA		dihydropyrimidinase-like 3							171.0	171.0	171.0					5																	146778759		1929	4175	6104	SO:0001819	synonymous_variant	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146778759G>T	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1167C>A	5.37:g.146778759G>T						DPYSL3_uc003loo.2_Silent_p.A503A	p.A389A	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1277	-			389					B3SXQ8|Q93012	Silent	SNP	ENST00000398514.3	37	c.1167C>A	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572582	0.28092	.	.	ENSG00000113657	ENST00000520473	.	.	.	5.47	1.4	0.22301	.	.	.	.	.	T	0.54515	0.1863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44982	-0.9292	4	.	.	.	-17.2901	7.0004	0.24807	0.1279:0.0:0.535:0.3372	.	.	.	.	K	88	.	.	Q	-	1	0	DPYSL3	146758952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.779000	0.47734	0.351000	0.24027	0.655000	0.94253	CAA		PASS	0.448	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		7	120	7	120	---	---	---	---
CCNG1	900	broad.mit.edu	37	5	162866308	162866308	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:162866308C>A	ENST00000340828.2	+	2	270	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	CCNG1_ENST00000504553.1_5'Flank|RP11-541P9.3_ENST00000458002.2_RNA|CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.Q16K|CCNG1_ENST00000512163.1_Intron|RP11-541P9.3_ENST00000503504.1_RNA|CCNG1_ENST00000510664.1_5'UTR	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	16					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Q16K(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ACTGCTACACCAGCTGAATGC	0.443																																						uc003lzb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(46-48)CAG>AAG		cyclin G1							128.0	124.0	125.0					5																	162866308		2203	4300	6503	SO:0001583	missense	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162866308C>A	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.46C>A	5.37:g.162866308C>A	ENSP00000344635:p.Gln16Lys					CCNG1_uc011dek.1_Intron|CCNG1_uc011del.1_Intron|CCNG1_uc003lzc.2_RNA	p.Q16K	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	3	180	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	16					B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	c.46C>A	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893190	0.52121	.	.	ENSG00000113328	ENST00000393929;ENST00000340828;ENST00000514590;ENST00000510097;ENST00000511490	T;T;T;T	0.44482	2.76;2.76;0.95;0.92	4.91	4.91	0.64330	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.52759	1.655	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.26189	-1.0110	10	0.12430	T	0.62	-0.1428	18.1291	0.89596	0.0:1.0:0.0:0.0	.	16	P51959	CCNG1_HUMAN	K	16	ENSP00000377506:Q16K;ENSP00000344635:Q16K;ENSP00000423791:Q16K;ENSP00000421132:Q16K	ENSP00000344635:Q16K	Q	+	1	0	CCNG1	162798886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.406000	0.59748	2.274000	0.75844	0.467000	0.42956	CAG		PASS	0.443	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		5	75	5	75	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168096832	168096832	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:168096832T>A	ENST00000519560.1	-	35	4711	c.4292A>T	c.(4291-4293)tAc>tTc	p.Y1431F	SLIT3_ENST00000332966.8_Missense_Mutation_p.Y1438F|CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.Y1431F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1431	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.Y1431F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGGCAGTAGGGCTCCCC	0.587																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4291-4293)TAC>TTC		slit homolog 3 precursor							115.0	86.0	96.0					5																	168096832		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168096832T>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4292A>T	5.37:g.168096832T>A	ENSP00000430333:p.Tyr1431Phe					SLIT3_uc010jjg.2_Missense_Mutation_p.Y1438F	p.Y1431F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	4712	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1431			EGF-like 9.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4292A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069197	0.36470	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.75821	-0.97;-0.95;-0.91	5.13	1.21	0.21127	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.602379	0.18631	N	0.135581	T	0.66992	0.2846	M	0.63843	1.955	0.32773	N	0.503522	B	0.10296	0.003	B	0.15870	0.014	T	0.63453	-0.6634	10	0.46703	T	0.11	.	7.2243	0.26005	0.0:0.0726:0.2773:0.6501	.	1431	O75094	SLIT3_HUMAN	F	1431;1438;1431	ENSP00000430333:Y1431F;ENSP00000332164:Y1438F;ENSP00000384890:Y1431F	ENSP00000332164:Y1438F	Y	-	2	0	SLIT3	168029410	0.752000	0.28338	0.951000	0.38953	0.978000	0.69477	0.229000	0.17833	-0.033000	0.13736	0.459000	0.35465	TAC		PASS	0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	14	10	14	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173317590	173317590	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:173317590G>T	ENST00000265085.5	+	1	2308	c.854G>T	c.(853-855)tGg>tTg	p.W285L	CPEB4_ENST00000520867.1_Missense_Mutation_p.W285L|CPEB4_ENST00000334035.5_Missense_Mutation_p.W285L|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000519835.1_Missense_Mutation_p.W285L|CPEB4_ENST00000522336.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	285					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W285L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCCTCTCCGTGGAGCAGCTAC	0.582																																						uc003mcs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)TGG>TTG		cytoplasmic polyadenylation element binding							162.0	176.0	171.0					5																	173317590		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317590G>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.854G>T	5.37:g.173317590G>T	ENSP00000265085:p.Trp285Leu					CPEB4_uc010jju.1_Missense_Mutation_p.W285L|CPEB4_uc010jjv.2_Missense_Mutation_p.W285L|CPEB4_uc011dfg.1_Missense_Mutation_p.W285L|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	p.W285L	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2260	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	285					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.854G>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975203	0.74360	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.33	5.33	0.75918	.	0.051491	0.85682	D	0.000000	T	0.60379	0.2264	M	0.63843	1.955	0.80722	D	1	D;D;P;P	0.58620	0.972;0.983;0.863;0.949	P;P;P;P	0.59424	0.724;0.857;0.449;0.784	T	0.62134	-0.6918	10	0.59425	D	0.04	-7.6371	19.0156	0.92892	0.0:0.0:1.0:0.0	.	285;285;285;285	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	L	285	ENSP00000265085:W285L;ENSP00000429092:W285L;ENSP00000334533:W285L;ENSP00000429048:W285L	ENSP00000265085:W285L	W	+	2	0	CPEB4	173250196	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.827000	0.99397	2.496000	0.84212	0.557000	0.71058	TGG		PASS	0.582	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		6	143	6	143	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176317909	176317909	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:176317909A>T	ENST00000292432.5	-	5	539	c.448T>A	c.(448-450)Ttc>Atc	p.F150I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	150	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.F150I(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATCCAGGAACTCAGACAGG	0.607																																						uc003mfa.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(448-450)TTC>ATC		hexokinase 3							56.0	55.0	55.0					5																	176317909		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317909A>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.448T>A	5.37:g.176317909A>T	ENSP00000292432:p.Phe150Ile					HK3_uc003mez.2_5'Flank	p.F150I	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	540	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	150			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.448T>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591451	0.86851	.	.	ENSG00000160883	ENST00000292432	D	0.98807	-5.15	4.79	4.79	0.61399	Hexokinase, N-terminal (1);	0.000000	0.56097	D	0.000029	D	0.99287	0.9751	M	0.93375	3.41	0.43242	D	0.995157	D	0.89917	1.0	D	0.87578	0.998	D	0.98977	1.0803	10	0.87932	D	0	.	13.1632	0.59557	1.0:0.0:0.0:0.0	.	150	P52790	HXK3_HUMAN	I	150	ENSP00000292432:F150I	ENSP00000292432:F150I	F	-	1	0	HK3	176250515	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	9.339000	0.96797	1.800000	0.52685	0.459000	0.35465	TTC		PASS	0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			15	16	15	16	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36483123	36483123	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:36483123C>T	ENST00000229812.7	-	7	946	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.D221N(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCTTGCTGTCCAAAAGAAGG	0.468																																					Colon(180;997 3561 16158)	uc003omg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(661-663)GAC>AAC		serine/threonine kinase 38							211.0	178.0	189.0					6																	36483123		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36483123C>T		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.661G>A	6.37:g.36483123C>T	ENSP00000229812:p.Asp221Asn					STK38_uc003omh.2_Missense_Mutation_p.D221N|STK38_uc003omi.2_Missense_Mutation_p.D221N	p.D221N	NM_007271	NP_009202	Q15208	STK38_HUMAN			6	1249	-			221			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.661G>A	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667512	0.96745	.	.	ENSG00000112079	ENST00000229812	T	0.46451	0.87	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	L	0.46947	1.48	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.55315	-0.8160	10	0.87932	D	0	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	221	Q15208	STK38_HUMAN	N	221	ENSP00000229812:D221N	ENSP00000229812:D221N	D	-	1	0	STK38	36591101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.730000	0.93505	0.655000	0.94253	GAC		PASS	0.468	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		24	24	24	24	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39836641	39836641	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:39836641G>T	ENST00000398904.2	+	7	987	c.805G>T	c.(805-807)Gat>Tat	p.D269Y	DAAM2_ENST00000538976.1_Missense_Mutation_p.D269Y|DAAM2_ENST00000274867.4_Missense_Mutation_p.D269Y			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	269	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.D269Y(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGGTACCGGGATGAAGTGAA	0.562																																						uc003oow.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(805-807)GAT>TAT		dishevelled associated activator of							95.0	102.0	100.0					6																	39836641		2083	4213	6296	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39836641G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.805G>T	6.37:g.39836641G>T	ENSP00000381876:p.Asp269Tyr					DAAM2_uc010jxc.2_Missense_Mutation_p.D269Y|DAAM2_uc003oox.2_Missense_Mutation_p.D269Y	p.D269Y	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			7	961	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		269			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.805G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011352	0.93346	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.89123	-2.47;-2.47;-2.47	5.65	5.65	0.86999	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94042	0.7310	10	0.49607	T	0.09	.	19.6915	0.96002	0.0:0.0:1.0:0.0	.	269;269	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	269	ENSP00000274867:D269Y;ENSP00000381876:D269Y;ENSP00000437808:D269Y	ENSP00000274867:D269Y	D	+	1	0	DAAM2	39944619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.767000	0.98960	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.562	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			6	11	6	11	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51613076	51613076	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:51613076G>T	ENST00000371117.3	-	58	9613	c.9338C>A	c.(9337-9339)tCt>tAt	p.S3113Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.S3113Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3113					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.S3113Y(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)					CAGTTCACAAGAGGAGCACTT	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.(9337-9339)TCT>TAT		fibrocystin isoform 1							229.0	214.0	219.0					6																	51613076		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.chr6:51613076G>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.9338C>A	6.37:g.51613076G>T	ENSP00000360158:p.Ser3113Tyr					PKHD1_uc010jzn.1_Missense_Mutation_p.S1096Y|PKHD1_uc003pai.2_Missense_Mutation_p.S3113Y	p.S3113Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	9614	-	Lung NSC(77;0.0605)		3113			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9338C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	6.861	0.528182	0.13127	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.81908	-1.55;-1.55	5.62	2.26	0.28386	Pectin lyase fold/virulence factor (1);	1.267510	0.05335	N	0.529081	T	0.77725	0.4173	L	0.53249	1.67	0.09310	N	1	P;P;P	0.47545	0.897;0.875;0.873	P;B;P	0.51657	0.676;0.353;0.601	T	0.65298	-0.6202	10	0.56958	D	0.05	.	9.0157	0.36168	0.3636:0.0:0.6364:0.0	.	3113;3113;3113	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Y	3113	ENSP00000360158:S3113Y;ENSP00000341097:S3113Y	ENSP00000341097:S3113Y	S	-	2	0	PKHD1	51721035	0.019000	0.18553	0.001000	0.08648	0.003000	0.03518	1.357000	0.34090	0.691000	0.31592	-0.164000	0.13417	TCT		PASS	0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		9	303	9	303	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55684595	55684595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:55684595G>A	ENST00000370830.3	-	2	1239	c.541C>T	c.(541-543)Cga>Tga	p.R181*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.R181*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	181					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R181*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGATCAAATCGAAATTCTTTG	0.388																																						uc003pcq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(541-543)CGA>TGA		bone morphogenetic protein 5 preproprotein							93.0	89.0	90.0					6																	55684595		2203	4300	6503	SO:0001587	stop_gained	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684595G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.541C>T	6.37:g.55684595G>A	ENSP00000359866:p.Arg181*					BMP5_uc011dxf.1_Nonsense_Mutation_p.R181*	p.R181*	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	1253	-	Lung NSC(77;0.0462)		181					B4E0Y4|Q9H547|Q9NTM5	Nonsense_Mutation	SNP	ENST00000370830.3	37	c.541C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	44	10.825821	0.99474	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	.	.	.	5.74	3.92	0.45320	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9904	0.71384	0.0:0.0:0.7395:0.2605	.	.	.	.	X	181	.	ENSP00000359866:R181X	R	-	1	2	BMP5	55792554	1.000000	0.71417	0.982000	0.44146	0.954000	0.61252	4.417000	0.59822	0.733000	0.32492	0.650000	0.86243	CGA		PASS	0.388	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			9	9	9	9	---	---	---	---
DST	667	broad.mit.edu	37	6	56426228	56426228	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:56426228G>C	ENST00000361203.3	-	53	13562	c.13555C>G	c.(13555-13557)Cag>Gag	p.Q4519E	DST_ENST00000370788.2_Missense_Mutation_p.Q2433E|DST_ENST00000421834.2_Missense_Mutation_p.Q2433E|DST_ENST00000446842.2_Missense_Mutation_p.Q4195E|DST_ENST00000370769.4_Missense_Mutation_p.Q4521E|DST_ENST00000244364.6_Missense_Mutation_p.Q2107E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.Q4699E			Q03001	DYST_HUMAN	dystonin	4519					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q2107E(1)|p.Q4521E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATTCTTCCTGAGCCTTTTGC	0.418																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(7831-7833)CAG>GAG		dystonin isoform 2							221.0	195.0	204.0					6																	56426228		1898	4123	6021	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56426228G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13555C>G	6.37:g.56426228G>C	ENSP00000354508:p.Gln4519Glu					DST_uc003pcz.3_Missense_Mutation_p.Q2433E|DST_uc011dxj.1_Missense_Mutation_p.Q2462E|DST_uc011dxk.1_Missense_Mutation_p.Q2473E|DST_uc003pcy.3_Missense_Mutation_p.Q2107E	p.Q2611E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		51	7859	-	Lung NSC(77;0.103)		4519			Spectrin 4.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.7831C>G		.	.	.	.	.	.	.	.	.	.	G	17.30	3.354560	0.61293	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	6.17	6.17	0.99709	.	0.000000	0.49305	D	0.000141	T	0.59473	0.2196	M	0.70275	2.135	0.24677	N	0.993387	D;P;P;P;B	0.59357	0.985;0.943;0.943;0.91;0.003	D;D;D;P;B	0.73708	0.981;0.93;0.93;0.468;0.007	T	0.48843	-0.8999	9	0.10902	T	0.67	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2433;4521;4699;4519;2107	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	2107;4699;4521;2433;4195;2433;4519	ENSP00000244364:Q2107E;ENSP00000359790:Q4699E;ENSP00000359805:Q4521E;ENSP00000400883:Q2433E;ENSP00000393645:Q4195E;ENSP00000359824:Q2433E;ENSP00000354508:Q4519E	ENSP00000244364:Q2107E	Q	-	1	0	DST	56534187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.843000	0.75384	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		28	33	28	33	---	---	---	---
DST	667	broad.mit.edu	37	6	56462639	56462639	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:56462639C>A	ENST00000361203.3	-	43	11468	c.11461G>T	c.(11461-11463)Gga>Tga	p.G3821*	DST_ENST00000370788.2_Nonsense_Mutation_p.G1735*|DST_ENST00000421834.2_Nonsense_Mutation_p.G1735*|DST_ENST00000446842.2_Nonsense_Mutation_p.G3497*|DST_ENST00000370769.4_Nonsense_Mutation_p.G3823*|DST_ENST00000244364.6_Nonsense_Mutation_p.G1409*|DST_ENST00000312431.6_Nonsense_Mutation_p.G3821*|DST_ENST00000370754.5_Nonsense_Mutation_p.G4001*			Q03001	DYST_HUMAN	dystonin	3821					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.G3823*(1)|p.G1409*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCTTCTCCAATTGCTGAC	0.423																																						uc003pdf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(5737-5739)GGA>TGA		dystonin isoform 2							241.0	224.0	229.0					6																	56462639		1969	4171	6140	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56462639C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11461G>T	6.37:g.56462639C>A	ENSP00000354508:p.Gly3821*					DST_uc003pcz.3_Nonsense_Mutation_p.G1735*|DST_uc011dxj.1_Nonsense_Mutation_p.G1764*|DST_uc011dxk.1_Nonsense_Mutation_p.G1775*|DST_uc003pcy.3_Nonsense_Mutation_p.G1409*|DST_uc010kaa.1_RNA	p.G1913*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		41	5765	-	Lung NSC(77;0.103)		3821					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.5737G>T		.	.	.	.	.	.	.	.	.	.	C	52	19.873609	0.99924	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	.	.	.	5.67	5.67	0.87782	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	15.5944	0.76566	0.0:0.8629:0.1371:0.0	.	.	.	.	X	1409;4001;3823;1735;3497;3821;1735;3821	.	ENSP00000244364:G1409X	G	-	1	0	DST	56570598	0.996000	0.38824	0.965000	0.40720	0.636000	0.38137	4.031000	0.57267	2.834000	0.97654	0.650000	0.86243	GGA		PASS	0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		35	37	35	37	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69653823	69653823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:69653823G>T	ENST00000370598.1	+	6	1953	c.1132G>T	c.(1132-1134)Gga>Tga	p.G378*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	378	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G378*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCCTCAGTATGGAGGAAGGCC	0.453																																						uc003pev.3																			1	Substitution - Nonsense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1132-1134)GGA>TGA		brain-specific angiogenesis inhibitor 3							223.0	180.0	194.0					6																	69653823		2203	4300	6503	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653823G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1132G>T	6.37:g.69653823G>T	ENSP00000359630:p.Gly378*					BAI3_uc010kak.2_Nonsense_Mutation_p.G378*	p.G378*	NM_001704	NP_001695	O60242	BAI3_HUMAN			6	1580	+		all_lung(197;0.212)	378			Extracellular (Potential).|TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.1132G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	47	13.111852	0.99720	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.8518	0.92235	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000359630:G378X	G	+	1	0	BAI3	69710544	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	GGA		PASS	0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	50	5	50	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70900066	70900066	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:70900066G>T	ENST00000322773.4	+	48	3177	c.3075G>T	c.(3073-3075)gaG>gaT	p.E1025D	COL19A1_ENST00000393344.1_Missense_Mutation_p.E647D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1025					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.E1025D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTAATCAAGAGGTCCTAAGGA	0.338																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(3073-3075)GAG>GAT		alpha 1 type XIX collagen precursor							61.0	63.0	63.0					6																	70900066		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70900066G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3075G>T	6.37:g.70900066G>T	ENSP00000316030:p.Glu1025Asp						p.E1025D	NM_001858	NP_001849	Q14993	COJA1_HUMAN			48	3192	+			1025					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3075G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247435	0.39697	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.92149	-2.98;-2.89	5.46	-1.86	0.07760	.	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	M	0.64404	1.975	0.36474	D	0.867426	D	0.69078	0.997	D	0.72625	0.978	D	0.89819	0.3987	10	0.44086	T	0.13	.	11.917	0.52771	0.549:0.0:0.451:0.0	.	1025	Q14993	COJA1_HUMAN	D	1025;647;100	ENSP00000316030:E1025D;ENSP00000377013:E647D	ENSP00000316030:E1025D	E	+	3	2	COL19A1	70956787	0.990000	0.36364	0.985000	0.45067	0.899000	0.52679	0.066000	0.14489	-0.353000	0.08224	-0.137000	0.14449	GAG		PASS	0.338	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			13	21	13	21	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76023132	76023132	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:76023132G>T	ENST00000237172.7	-	5	2746	c.2416C>A	c.(2416-2418)Caa>Aaa	p.Q806K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.Q707K|FILIP1_ENST00000393004.2_Missense_Mutation_p.Q806K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	806								p.Q806K(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCATCAGTTTGGACTCCAGTT	0.473																																						uc003pia.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2416-2418)CAA>AAA		filamin A interacting protein 1							137.0	143.0	141.0					6																	76023132		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023132G>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2416C>A	6.37:g.76023132G>T	ENSP00000237172:p.Gln806Lys					FILIP1_uc003phy.1_Missense_Mutation_p.Q806K|FILIP1_uc003phz.2_Missense_Mutation_p.Q707K|FILIP1_uc010kbe.2_Missense_Mutation_p.Q809K|FILIP1_uc003pib.1_Missense_Mutation_p.Q558K	p.Q806K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2789	-			806					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2416C>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168638	0.38315	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.36520	1.28;1.25;1.28	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.91635	0.98;0.998;0.999	T	0.31364	-0.9946	10	0.29301	T	0.29	-28.5219	19.1041	0.93285	0.0:0.0:1.0:0.0	.	806;806;806	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	806;806;707	ENSP00000376728:Q806K;ENSP00000237172:Q806K;ENSP00000359037:Q707K	ENSP00000237172:Q806K	Q	-	1	0	FILIP1	76079852	1.000000	0.71417	0.209000	0.23619	0.004000	0.04260	9.657000	0.98554	2.758000	0.94735	0.563000	0.77884	CAA		PASS	0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		7	115	7	115	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90605195	90605195	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:90605195C>T	ENST00000369352.1	+	1	1008	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	18					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S336S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATGTTCACAGCCCGTGTCCCT	0.532											OREG0004442	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CX62|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc011eaa.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)AGC>AGT		gap junction protein, alpha 10							81.0	77.0	78.0					6																	90605195		2203	4300	6503	SO:0001819	synonymous_variant	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605195C>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1008C>T	6.37:g.90605195C>T			OREG0004442	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CX62|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1276		p.S336S	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1008	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	336			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	c.1008C>T	CCDS5025.1																																																																																				PASS	0.532	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		17	23	17	23	---	---	---	---
CCNC	892	broad.mit.edu	37	6	99997415	99997415	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:99997415G>A	ENST00000520429.1	-	9	1012	c.567C>T	c.(565-567)tgC>tgT	p.C189C	CCNC_ENST00000520371.1_Silent_p.C189C|CCNC_ENST00000523799.1_Silent_p.C104C|CCNC_ENST00000523985.1_Silent_p.C104C|CCNC_ENST00000521017.1_5'Flank|CCNC_ENST00000369220.4_Silent_p.C188C|CCNC_ENST00000518714.1_Silent_p.C189C	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	189					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.C189C(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GATACAGTAGGCAAAGATCCG	0.328																																					GBM(57;273 1020 40094 44454 49348)	uc003pqe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(565-567)TGC>TGT		cyclin C isoform a							121.0	104.0	110.0					6																	99997415		2203	4299	6502	SO:0001819	synonymous_variant	892				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	g.chr6:99997415G>A		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.567C>T	6.37:g.99997415G>A						uc003pqc.2_Intron|CCNC_uc003pqd.2_Silent_p.C104C|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.C188C|CCNC_uc011eah.1_Silent_p.C104C	p.C189C	NM_005190	NP_005181	P24863	CCNC_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.064)	9	854	-		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	189					B4DPZ1|Q9H543	Silent	SNP	ENST00000520429.1	37	c.567C>T	CCDS34502.1																																																																																				PASS	0.328	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190		4	19	4	19	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332129	123332129	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:123332129G>T	ENST00000275162.5	+	3	1724		c.e3-1		CLVS2_ENST00000368438.1_Splice_Site	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GTCGCCGATAGGTACACACTG	0.353																																						uc003pzi.1																			2	Unknown(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.e3-1		retinaldehyde binding protein 1-like 2							141.0	131.0	135.0					6																	123332129		2203	4299	6502	SO:0001630	splice_region_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123332129G>T	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.390-1G>T	6.37:g.123332129G>T							p.R130_splice	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			3	1259	+								B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Splice_Site	SNP	ENST00000275162.5	37	c.390_splice	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369587	0.61624	.	.	ENSG00000146352	ENST00000275162	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1872	0.89796	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLVS2	123373828	1.000000	0.71417	0.996000	0.52242	0.640000	0.38277	9.578000	0.98200	2.519000	0.84933	0.585000	0.79938	.		PASS	0.353	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852	Intron	5	74	5	74	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146351083	146351083	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:146351083G>T	ENST00000282753.1	+	1	665	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C	GRM1_ENST00000492807.2_Missense_Mutation_p.G144C|GRM1_ENST00000392299.2_Missense_Mutation_p.G144C|GRM1_ENST00000355289.4_Missense_Mutation_p.G144C|GRM1_ENST00000507907.1_Missense_Mutation_p.G144C|GRM1_ENST00000361719.2_Missense_Mutation_p.G144C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	144					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G144C(2)|p.G144S(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCTGCCTGACGGCCAGTCCCT	0.567																																						uc010khw.1																			3	Substitution - Missense(3)		lung(2)|prostate(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(430-432)GGC>TGC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						69.0	71.0	71.0					6																	146351083		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351083G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.430G>T	6.37:g.146351083G>T	ENSP00000282753:p.Gly144Cys					GRM1_uc010khu.1_Missense_Mutation_p.G144C|GRM1_uc010khv.1_Missense_Mutation_p.G144C|GRM1_uc003qll.2_Missense_Mutation_p.G144C|GRM1_uc011edz.1_Missense_Mutation_p.G144C|GRM1_uc011eea.1_Missense_Mutation_p.G144C	p.G144C	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	900	+		Ovarian(120;0.0387)	144			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.430G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002537	0.54254	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.69	3.65	0.41850	Extracellular ligand-binding receptor (1);	0.545614	0.19929	N	0.102917	T	0.75332	0.3835	L	0.52573	1.65	0.09310	N	0.999993	B;P;P;B	0.46142	0.193;0.873;0.573;0.193	B;P;P;B	0.49361	0.027;0.608;0.594;0.027	T	0.70637	-0.4817	10	0.87932	D	0	.	3.0001	0.06011	0.0923:0.1284:0.4334:0.3459	.	144;144;139;144	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	144	ENSP00000354896:G144C;ENSP00000376119:G144C;ENSP00000424095:G144C;ENSP00000282753:G144C;ENSP00000347437:G144C;ENSP00000425599:G144C	ENSP00000282753:G144C	G	+	1	0	GRM1	146392776	0.865000	0.29922	0.993000	0.49108	0.901000	0.52897	1.849000	0.39318	2.679000	0.91253	0.561000	0.74099	GGC		PASS	0.567	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		35	19	35	19	---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148711341	148711341	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:148711341C>T	ENST00000367467.3	+	2	703	c.228C>T	c.(226-228)gaC>gaT	p.D76D	SASH1_ENST00000367469.1_Silent_p.D31D	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	76					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.D76D(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GTTTCTCCGACGTGTGCGAGA	0.562																																						uc003qme.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(226-228)GAC>GAT		SAM and SH3 domain containing 1							100.0	89.0	93.0					6																	148711341		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148711341C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.228C>T	6.37:g.148711341C>T							p.D76D	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	2	703	+		Ovarian(120;0.0169)	76					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.228C>T	CCDS5212.1																																																																																				PASS	0.562	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		19	52	19	52	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152665276	152665276	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:152665276G>T	ENST00000367255.5	-	74	12766	c.12165C>A	c.(12163-12165)gtC>gtA	p.V4055V	SYNE1_ENST00000448038.1_Silent_p.V3984V|SYNE1_ENST00000265368.4_Silent_p.V4055V|SYNE1_ENST00000423061.1_Silent_p.V3984V|SYNE1_ENST00000341594.5_Silent_p.V3920V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4055					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V4055V(2)|p.V3984V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCGGCTGGACTGCAGAAA	0.483										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12163-12165)GTC>GTA		spectrin repeat containing, nuclear envelope 1							120.0	114.0	116.0					6																	152665276		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152665276G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12165C>A	6.37:g.152665276G>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.V3984V|SYNE1_uc003qou.3_Silent_p.V4055V|SYNE1_uc010kja.1_Silent_p.V760V	p.V4055V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12767	-		Ovarian(120;0.0955)	4055			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.12165C>A	CCDS5236.2																																																																																				PASS	0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		39	18	39	18	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152708431	152708431	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:152708431T>A	ENST00000367255.5	-	54	8864	c.8263A>T	c.(8263-8265)Aaa>Taa	p.K2755*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K2762*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K2755*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K2762*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K2794*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2755					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K2755*(2)|p.K2762*(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTTCTATTTTTTGATCCACT	0.448										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(8263-8265)AAA>TAA		spectrin repeat containing, nuclear envelope 1							244.0	214.0	224.0					6																	152708431		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152708431T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8263A>T	6.37:g.152708431T>A	ENSP00000356224:p.Lys2755*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.K2762*|SYNE1_uc003qou.3_Nonsense_Mutation_p.K2755*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K2738*	p.K2755*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8865	-		Ovarian(120;0.0955)	2755			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.8263A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	51	17.522700	0.99888	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.96	3.47	0.39725	.	0.430986	0.22037	N	0.065506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0612	0.59008	0.0:0.0:0.2522:0.7477	.	.	.	.	X	2755;2762;2755;2762;2794	.	ENSP00000265368:K2755X	K	-	1	0	SYNE1	152750124	0.999000	0.42202	0.002000	0.10522	0.036000	0.12997	2.852000	0.48310	0.451000	0.26802	0.533000	0.62120	AAA		PASS	0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		37	27	37	27	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152757184	152757184	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:152757184T>G	ENST00000367255.5	-	33	4803	c.4202A>C	c.(4201-4203)aAg>aCg	p.K1401T	SYNE1_ENST00000367253.4_Missense_Mutation_p.K1401T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1408T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1401T|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1401T|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1408T|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1391T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1467T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1401					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K1401T(2)|p.K1408T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGCTTCCTTTACAAGGTT	0.388										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(4201-4203)AAG>ACG		spectrin repeat containing, nuclear envelope 1							128.0	117.0	121.0					6																	152757184		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757184T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4202A>C	6.37:g.152757184T>G	ENSP00000356224:p.Lys1401Thr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.K1408T|SYNE1_uc003qou.3_Missense_Mutation_p.K1401T|SYNE1_uc010kjb.1_Missense_Mutation_p.K1384T|SYNE1_uc003qow.2_Missense_Mutation_p.K696T|SYNE1_uc003qox.1_Missense_Mutation_p.K917T	p.K1401T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4804	-		Ovarian(120;0.0955)	1401			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4202A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586058	0.86748	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.89415	0.49;0.49;0.4;0.48;0.54;-2.27;-2.51;-2.51	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000013	D	0.92864	0.7730	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;0.998;1.0;0.996;0.998	D;P;D;D;P;D	0.91635	0.998;0.883;0.945;0.999;0.883;0.96	D	0.92974	0.6400	10	0.51188	T	0.08	.	16.3432	0.83101	0.0:0.0:0.0:1.0	.	1384;1401;1391;1401;1401;1408	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	T	1401;1408;1401;1408;1467;1401;1391;1401	ENSP00000356224:K1401T;ENSP00000396024:K1408T;ENSP00000265368:K1401T;ENSP00000390975:K1408T;ENSP00000341887:K1467T;ENSP00000356222:K1401T;ENSP00000356217:K1391T;ENSP00000414510:K1401T	ENSP00000265368:K1401T	K	-	2	0	SYNE1	152798877	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.203000	0.77864	2.263000	0.75096	0.377000	0.23210	AAG		PASS	0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	70	9	70	---	---	---	---
SNX9	51429	broad.mit.edu	37	6	158327175	158327175	+	Silent	SNP	G	G	A	rs138249048		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:158327175G>A	ENST00000392185.3	+	7	807	c.636G>A	c.(634-636)gcG>gcA	p.A212A		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	212	Critical for tubulation activity.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.A212A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGGATTTGCGAAACCTGGCA	0.333																																						uc003qqv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(634-636)GCG>GCA		sorting nexin 9		A		1,4405	2.1+/-5.4	0,1,2202	110.0	107.0	108.0		636	0.2	1.0	6	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	SNX9	NM_016224.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		212/596	158327175	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158327175G>A	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.636G>A	6.37:g.158327175G>A							p.A212A	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	7	809	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	212			Critical for tubulation activity.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	c.636G>A	CCDS5253.1																																																																																				PASS	0.333	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			6	29	6	29	---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167717471	167717471	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr6:167717471G>T	ENST00000230256.3	+	5	865	c.690G>T	c.(688-690)cgG>cgT	p.R230R	UNC93A_ENST00000366829.2_Silent_p.R188R	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R230R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGTTCAGCGGGAAAGTgaag	0.473																																						uc003qvq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(688-690)CGG>CGT		unc-93 homolog A isoform 1							148.0	124.0	132.0					6																	167717471		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167717471G>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.690G>T	6.37:g.167717471G>T						UNC93A_uc003qvr.2_Silent_p.R188R	p.R230R	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	5	865	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	230					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.690G>T	CCDS5300.1																																																																																				PASS	0.473	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		7	81	7	81	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4169550	4169550	+	Missense_Mutation	SNP	G	G	T	rs200880546		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:4169550G>T	ENST00000404826.2	+	27	4089	c.3950G>T	c.(3949-3951)cGg>cTg	p.R1317L	SDK1_ENST00000389531.3_Missense_Mutation_p.R1317L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1317	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R1317L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCCTGTTCCGGGCCAAAGAC	0.647																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(3949-3951)CGG>CTG		sidekick 1 precursor							55.0	55.0	55.0					7																	4169550		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4169550G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3950G>T	7.37:g.4169550G>T	ENSP00000385899:p.Arg1317Leu					SDK1_uc010kso.2_Missense_Mutation_p.R593L|SDK1_uc003smy.2_5'UTR	p.R1317L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	27	4089	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1317			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3950G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013040	0.54468	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58797	0.31;0.31	5.73	4.75	0.60458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.267246	0.29752	N	0.011286	T	0.43590	0.1254	L	0.39467	1.215	0.26043	N	0.981584	B;P	0.39060	0.267;0.657	B;B	0.38755	0.165;0.281	T	0.45702	-0.9243	10	0.48119	T	0.1	.	3.7575	0.08591	0.3332:0.0:0.6668:0.0	.	1317;1317	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	L	1317	ENSP00000385899:R1317L;ENSP00000374182:R1317L	ENSP00000374182:R1317L	R	+	2	0	SDK1	4136076	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.822000	0.48073	2.722000	0.93159	0.655000	0.94253	CGG		PASS	0.647	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		31	23	31	23	---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5262287	5262287	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:5262287C>A	ENST00000288828.4	+	8	956	c.724C>A	c.(724-726)Cgg>Agg	p.R242R	WIPI2_ENST00000382384.2_Silent_p.R224R|WIPI2_ENST00000401525.3_Silent_p.R224R|WIPI2_ENST00000484262.1_Silent_p.R183R|WIPI2_ENST00000404704.3_Silent_p.R242R	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	242					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R242R(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		CTTTGAGTTTCGGAGAGGAGT	0.373																																						uc003snv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(724-726)CGG>AGG		WD repeat domain, phosphoinositide interacting 2							162.0	172.0	169.0					7																	5262287		2203	4300	6503	SO:0001819	synonymous_variant	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5262287C>A		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.724C>A	7.37:g.5262287C>A						WIPI2_uc003snw.2_Silent_p.R242R|WIPI2_uc003snx.2_Silent_p.R224R|WIPI2_uc003sny.2_Silent_p.R224R|WIPI2_uc010ksv.2_Silent_p.R98R|WIPI2_uc003soa.2_Silent_p.R183R|WIPI2_uc003sob.2_5'UTR	p.R242R	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	8	940	+		Ovarian(82;0.0175)	242					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	c.724C>A	CCDS5339.1																																																																																				PASS	0.373	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		5	167	5	167	---	---	---	---
TWISTNB	221830	broad.mit.edu	37	7	19738049	19738049	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:19738049G>T	ENST00000222567.5	-	4	977	c.907C>A	c.(907-909)Caa>Aaa	p.Q303K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	303	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.Q303K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TGGTCACTTTGGTAACCACTG	0.418																																						uc003sup.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(907-909)CAA>AAA		TWIST neighbor							142.0	159.0	154.0					7																	19738049		2203	4299	6502	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738049G>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.907C>A	7.37:g.19738049G>T	ENSP00000222567:p.Gln303Lys						p.Q303K	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			4	928	-			303			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.907C>A	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655407	0.88056	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.84	5.84	0.93424	.	0.181950	0.49916	D	0.000135	T	0.69441	0.3111	L	0.60455	1.87	0.41469	D	0.988097	D	0.57257	0.979	P	0.54270	0.747	T	0.62760	-0.6786	9	0.09084	T	0.74	-22.0975	20.1322	0.98003	0.0:0.0:1.0:0.0	.	303	Q3B726	RPA43_HUMAN	K	303	.	ENSP00000222567:Q303K	Q	-	1	0	TWISTNB	19704574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.637000	0.54324	2.765000	0.95021	0.484000	0.47621	CAA		PASS	0.418	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			12	722	12	722	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21550868	21550868	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:21550868C>A	ENST00000222584.3	+	6	2554	c.2336C>A	c.(2335-2337)aCc>aAc	p.T779N		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	779					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T779N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AATGTTTCAACCAACATGGAA	0.428																																						uc003sva.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2335-2337)ACC>AAC		Sp4 transcription factor							62.0	65.0	64.0					7																	21550868		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550868C>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2336C>A	7.37:g.21550868C>A	ENSP00000222584:p.Thr779Asn					SP4_uc003svb.2_Missense_Mutation_p.T466N	p.T779N	NM_003112	NP_003103	Q02446	SP4_HUMAN			6	2517	+			779					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2336C>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807644	0.31961	.	.	ENSG00000105866	ENST00000222584	T	0.08720	3.06	5.44	5.44	0.79542	.	0.228674	0.43110	D	0.000615	T	0.06600	0.0169	N	0.08118	0	0.41589	D	0.988785	B	0.17667	0.023	B	0.10450	0.005	T	0.40327	-0.9569	10	0.56958	D	0.05	.	19.264	0.93979	0.0:1.0:0.0:0.0	.	779	Q02446	SP4_HUMAN	N	779	ENSP00000222584:T779N	ENSP00000222584:T779N	T	+	2	0	SP4	21517393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.569000	0.60865	2.572000	0.86782	0.591000	0.81541	ACC		PASS	0.428	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		51	19	51	19	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21757524	21757524	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:21757524C>A	ENST00000409508.3	+	43	7146	c.7115C>A	c.(7114-7116)cCt>cAt	p.P2372H	DNAH11_ENST00000328843.6_Missense_Mutation_p.P2379H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2379	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P2379H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTCAATTCCTGAGAGTAGC	0.398									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7135-7137)CCT>CAT		dynein, axonemal, heavy chain 11							161.0	151.0	154.0					7																	21757524		1893	4129	6022	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21757524C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7115C>A	7.37:g.21757524C>A	ENSP00000475939:p.Pro2372His						p.P2379H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			44	7167	+			2379					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7136C>A		.	.	.	.	.	.	.	.	.	.	C	18.27	3.586733	0.66105	.	.	ENSG00000105877	ENST00000328843	T	0.25414	1.8	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	.	.	.	0.47511	D	0.999447	D	0.89917	1.0	D	0.67725	0.953	T	0.38672	-0.9650	9	0.51188	T	0.08	.	12.2383	0.54528	0.0:0.9212:0.0:0.0788	.	2379	Q96DT5	DYH11_HUMAN	H	2379	ENSP00000330671:P2379H	ENSP00000330671:P2379H	P	+	2	0	DNAH11	21724049	1.000000	0.71417	0.999000	0.59377	0.713000	0.41058	4.716000	0.61916	2.753000	0.94483	0.557000	0.71058	CCT		PASS	0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		11	389	11	389	---	---	---	---
CDCA7L	55536	broad.mit.edu	37	7	21945920	21945920	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:21945920C>A	ENST00000406877.3	-	6	1187	c.908G>T	c.(907-909)aGg>aTg	p.R303M	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R269M|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R257M	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	303					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R303M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AATTGTCTTCCTTCTTCGGAA	0.488																																						uc010kuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)AGG>ATG		cell division cycle associated 7-like isoform 1							70.0	79.0	76.0					7																	21945920		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21945920C>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.908G>T	7.37:g.21945920C>A	ENSP00000383986:p.Arg303Met					CDCA7L_uc003sve.3_Missense_Mutation_p.R269M|CDCA7L_uc010kul.2_Missense_Mutation_p.R257M|CDCA7L_uc003svf.3_Missense_Mutation_p.R302M	p.R303M	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			6	1028	-			303					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.908G>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936434	0.73442	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.52057	0.7;0.7;0.68	5.77	4.88	0.63580	.	0.293089	0.36409	N	0.002603	T	0.55000	0.1893	M	0.62723	1.935	0.38398	D	0.945597	D;D;D	0.59357	0.958;0.985;0.975	P;P;P	0.56700	0.535;0.804;0.796	T	0.61652	-0.7019	10	0.87932	D	0	.	6.4966	0.22146	0.0:0.8135:0.0:0.1865	.	257;303;302	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	M	269;303;257	ENSP00000348523:R269M;ENSP00000383986:R303M;ENSP00000363045:R257M	ENSP00000348523:R269M	R	-	2	0	CDCA7L	21912445	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.762000	0.47597	2.723000	0.93209	0.655000	0.94253	AGG		PASS	0.488	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		9	365	9	365	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23775395	23775395	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:23775395C>A	ENST00000355870.3	+	7	841	c.722C>A	c.(721-723)cCt>cAt	p.P241H	STK31_ENST00000354639.3_Missense_Mutation_p.P218H|STK31_ENST00000433467.2_Missense_Mutation_p.P241H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.P218H	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	241						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.P241H(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						AGCCCCATTCCTTTGTGGGGG	0.453																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(721-723)CCT>CAT		serine/threonine kinase 31 isoform a							85.0	86.0	86.0					7																	23775395		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775395C>A	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.722C>A	7.37:g.23775395C>A	ENSP00000348132:p.Pro241His					STK31_uc003swt.3_Missense_Mutation_p.P218H|STK31_uc011jze.1_Missense_Mutation_p.P241H|STK31_uc010kuq.2_Missense_Mutation_p.P218H	p.P241H	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			7	789	+			241					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.722C>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	c	17.43	3.386690	0.61956	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.16	5.16	0.70880	.	0.140095	0.48767	D	0.000164	T	0.41143	0.1146	M	0.62723	1.935	0.39702	D	0.971203	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.32693	-0.9897	10	0.87932	D	0	-4.6746	12.0004	0.53226	0.0:0.9152:0.0:0.0848	.	241;241	B4DZ06;Q9BXU1	.;STK31_HUMAN	H	241;241;218;218	ENSP00000348132:P241H;ENSP00000411852:P241H;ENSP00000346660:P218H;ENSP00000406146:P218H	ENSP00000346660:P218H	P	+	2	0	STK31	23741920	0.956000	0.32656	0.979000	0.43373	0.867000	0.49689	3.394000	0.52551	2.557000	0.86248	0.467000	0.42956	CCT		PASS	0.453	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		8	219	8	219	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48266877	48266877	+	Nonsense_Mutation	SNP	G	G	T	rs201957186	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:48266877G>T	ENST00000435803.1	+	6	511	c.487G>T	c.(487-489)Gag>Tag	p.E163*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	163					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E108*(1)|p.E163*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAATAAGACCGAGGAGGTAAT	0.398																																						uc003toq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(487-489)GAG>TAG		ATP binding cassette, sub-family A (ABC1),							144.0	138.0	140.0					7																	48266877		1831	4091	5922	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48266877G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.487G>T	7.37:g.48266877G>T	ENSP00000411096:p.Glu163*					ABCA13_uc003top.2_Nonsense_Mutation_p.E163*|ABCA13_uc010kyr.2_5'UTR	p.E163*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			6	512	+			163					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.487G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518989	0.64634	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.55	5.55	0.83447	.	0.000000	0.43579	D	0.000551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.0079	0.71527	0.0:0.0:1.0:0.0	.	.	.	.	X	163	.	ENSP00000409268:E163X	E	+	1	0	ABCA13	48237423	1.000000	0.71417	0.685000	0.30070	0.061000	0.15899	4.893000	0.63199	2.591000	0.87537	0.557000	0.71058	GAG		PASS	0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	116	5	116	---	---	---	---
VWC2	375567	broad.mit.edu	37	7	49842319	49842319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:49842319G>T	ENST00000340652.4	+	3	1265	c.709G>T	c.(709-711)Gag>Tag	p.E237*		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	237	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)		p.E237*(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GTCTCCATGCGAGAGGTGTCG	0.512																																						uc003tot.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(709-711)GAG>TAG		von Willebrand factor C domain containing 2							241.0	193.0	209.0					7																	49842319		2203	4300	6503	SO:0001587	stop_gained	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842319G>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.709G>T	7.37:g.49842319G>T	ENSP00000341819:p.Glu237*						p.E237*	NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN			3	1265	+			237			VWFC 2.		Q6UXE2	Nonsense_Mutation	SNP	ENST00000340652.4	37	c.709G>T	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	44	10.895228	0.99484	.	.	ENSG00000188730	ENST00000340652	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.0139	0.92886	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	ENSP00000341819:E237X	E	+	1	0	VWC2	49812865	1.000000	0.71417	0.945000	0.38365	0.965000	0.64279	9.869000	0.99810	2.484000	0.83849	0.650000	0.86243	GAG		PASS	0.512	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		37	42	37	42	---	---	---	---
GNAT3	346562	broad.mit.edu	37	7	80108231	80108231	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:80108231C>T	ENST00000398291.3	-	4	480	c.387G>A	c.(385-387)cgG>cgA	p.R129R	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	129					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.R129R(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTCTCCACAGCCGTTTTATTA	0.443																																						uc011kgu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(385-387)CGG>CGA		guanine nucleotide binding protein, alpha							152.0	145.0	147.0					7																	80108231		1880	4126	6006	SO:0001819	synonymous_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80108231C>T		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.387G>A	7.37:g.80108231C>T						CD36_uc003uhc.2_Intron	p.R129R	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			4	387	-			129					A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	c.387G>A	CCDS47625.1																																																																																				PASS	0.443	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		19	109	19	109	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80418629	80418629	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:80418629G>T	ENST00000265361.3	-	12	1908	c.1347C>A	c.(1345-1347)ctC>ctA	p.L449L	SEMA3C_ENST00000419255.2_Silent_p.L449L|SEMA3C_ENST00000544525.1_Silent_p.L467L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	449	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.L449L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TACCTGTTCCGAGAAACAGGA	0.393																																						uc003uhj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1345-1347)CTC>CTA		semaphorin 3C precursor							139.0	131.0	133.0					7																	80418629		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80418629G>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1347C>A	7.37:g.80418629G>T						SEMA3C_uc011kgw.1_Silent_p.L467L	p.L449L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			12	1909	-			449			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.1347C>A	CCDS5596.1																																																																																				PASS	0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		5	86	5	86	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82580167	82580167	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:82580167C>A	ENST00000333891.9	-	6	10074	c.9737G>T	c.(9736-9738)cGa>cTa	p.R3246L	PCLO_ENST00000423517.2_Missense_Mutation_p.R3246L|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3246L(2)|p.R3177L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGTTCTCGGAACCTTTG	0.473																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(9736-9738)CGA>CTA		piccolo isoform 1							89.0	85.0	86.0					7																	82580167		1867	4114	5981	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580167C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9737G>T	7.37:g.82580167C>A	ENSP00000334319:p.Arg3246Leu					PCLO_uc003uhv.2_Missense_Mutation_p.R3246L|PCLO_uc010lec.2_Missense_Mutation_p.R211L	p.R3246L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10026	-			3177			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9737G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805709	0.31961	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.59906	0.23;0.26	5.45	5.45	0.79879	.	.	.	.	.	T	0.77096	0.4080	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.78314	0.847;0.991;0.991	T	0.79482	-0.1785	9	0.87932	D	0	.	18.8749	0.92331	0.0:1.0:0.0:0.0	.	3177;3246;3246	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3177;3246;3246	ENSP00000334319:R3246L;ENSP00000388393:R3246L	ENSP00000334319:R3246L	R	-	2	0	PCLO	82418103	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.792000	0.85828	2.565000	0.86533	0.462000	0.41574	CGA		PASS	0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	94	4	94	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92763543	92763543	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:92763543G>A	ENST00000318238.4	-	5	2958	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S581F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S581F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	581					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.S581F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGTTTACAGAGATACACAA	0.353																																						uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1741-1743)TCT>TTT		sterile alpha motif domain containing 9-like							67.0	65.0	65.0					7																	92763543		2203	4297	6500	SO:0001583	missense	219285							g.chr7:92763543G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1742C>T	7.37:g.92763543G>A	ENSP00000326247:p.Ser581Phe					SAMD9L_uc003umj.1_Missense_Mutation_p.S581F|SAMD9L_uc003umi.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S581F|SAMD9L_uc003umk.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S581F|SAMD9L_uc011khx.1_Intron	p.S581F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2958	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		581					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1742C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	8.988	0.976905	0.18812	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.14266	2.52;2.52;2.52	4.75	3.87	0.44632	.	0.068063	0.64402	D	0.000019	T	0.09379	0.0231	N	0.14661	0.345	0.28389	N	0.919175	P	0.41569	0.755	B	0.38056	0.264	T	0.05582	-1.0876	10	0.87932	D	0	-8.734	14.5342	0.67947	0.0:0.8454:0.1546:0.0	.	581	Q8IVG5	SAM9L_HUMAN	F	581	ENSP00000326247:S581F;ENSP00000405760:S581F;ENSP00000408796:S581F	ENSP00000326247:S581F	S	-	2	0	SAMD9L	92601479	0.979000	0.34478	0.985000	0.45067	0.238000	0.25445	2.443000	0.44881	1.216000	0.43427	-0.499000	0.04595	TCT		PASS	0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		13	66	13	66	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100151098	100151098	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:100151098C>G	ENST00000300176.4	+	4	682	c.560C>G	c.(559-561)tCa>tGa	p.S187*	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	187					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S187*(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGTCTCTCTCAGTTGCTGCC	0.542																																						uc003uvf.2																			2	Substitution - Nonsense(2)		urinary_tract(1)|lung(1)	central_nervous_system(1)	1						c.(559-561)TCA>TGA		ArfGAP with FG repeats 2							94.0	81.0	85.0					7																	100151098		2203	4300	6503	SO:0001587	stop_gained	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100151098C>G	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.560C>G	7.37:g.100151098C>G	ENSP00000300176:p.Ser187*					AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.Q49E	p.S187*	NM_006076	NP_006067	O95081	AGFG2_HUMAN			4	696	+			187					O75429|Q96AB9|Q96GL4	Nonsense_Mutation	SNP	ENST00000300176.4	37	c.560C>G	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689495	0.88735	.	.	ENSG00000106351	ENST00000300176	.	.	.	4.5	4.5	0.54988	.	0.450410	0.24309	N	0.039641	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-18.9601	13.0835	0.59127	0.0:1.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000300176:S187X	S	+	2	0	AGFG2	99989034	0.552000	0.26505	0.969000	0.41365	0.801000	0.45260	2.830000	0.48136	2.817000	0.96982	0.644000	0.83932	TCA		PASS	0.542	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		11	64	11	64	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677488	100677488	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:100677488G>C	ENST00000306151.4	+	3	2855	c.2791G>C	c.(2791-2793)Gac>Cac	p.D931H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	931	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.D931H(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)					AAGTATGCCTGACAGCACCAC	0.507																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2791-2793)GAC>CAC		mucin 17 precursor							391.0	334.0	353.0					7																	100677488		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677488G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2791G>C	7.37:g.100677488G>C	ENSP00000302716:p.Asp931His					MUC17_uc010lho.1_RNA	p.D931H	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2844	+	Lung NSC(181;0.136)|all_lung(186;0.182)		931			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2791G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.369	-0.935013	0.02340	.	.	ENSG00000169876	ENST00000306151	T	0.03065	4.06	0.982	-8.47E-4	0.14036	.	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	P	0.52463	0.953	B	0.34489	0.184	T	0.49551	-0.8928	9	0.42905	T	0.14	.	4.995	0.14233	0.0:0.3868:0.6132:0.0	.	931	Q685J3	MUC17_HUMAN	H	931	ENSP00000302716:D931H	ENSP00000302716:D931H	D	+	1	0	MUC17	100464208	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.406000	0.07187	0.014000	0.14944	-1.397000	0.01146	GAC		PASS	0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		111	222	111	222	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102585004	102585004	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:102585004A>G	ENST00000339431.4	+	4	1571	c.1276A>G	c.(1276-1278)Aga>Gga	p.R426G	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000249377.4_3'UTR|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	426					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.R426G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAAAAACATAGAGATCACAC	0.338																																						uc003vau.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1276-1278)AGA>GGA		leucine rich repeat containing 17 isoform 1							78.0	76.0	77.0					7																	102585004		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102585004A>G	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1276A>G	7.37:g.102585004A>G	ENSP00000344242:p.Arg426Gly					FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR	p.R426G	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN			4	1665	+			426					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.1276A>G	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.622422	0.28889	.	.	ENSG00000128606	ENST00000339431	T	0.59224	0.28	5.79	4.58	0.56647	.	0.485095	0.19087	N	0.123078	T	0.49457	0.1558	L	0.47716	1.5	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.45833	-0.9234	10	0.54805	T	0.06	-2.4064	10.3696	0.44046	0.7426:0.161:0.0:0.0964	.	426	Q8N6Y2	LRC17_HUMAN	G	426	ENSP00000344242:R426G	ENSP00000344242:R426G	R	+	1	2	LRRC17	102372240	0.000000	0.05858	0.016000	0.15963	0.866000	0.49608	0.510000	0.22723	2.218000	0.71995	0.533000	0.62120	AGA		PASS	0.338	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		13	61	13	61	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103180820	103180820	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:103180820G>C	ENST00000428762.1	-	44	6913	c.6754C>G	c.(6754-6756)Ctc>Gtc	p.L2252V	RELN_ENST00000343529.5_Missense_Mutation_p.L2252V|RELN_ENST00000424685.2_Missense_Mutation_p.L2252V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2252					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L2252V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACCGTTGAGAGAATACTGT	0.502																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6754-6756)CTC>GTC		reelin isoform a							110.0	107.0	108.0					7																	103180820		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180820G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6754C>G	7.37:g.103180820G>C	ENSP00000392423:p.Leu2252Val					RELN_uc010liz.2_Missense_Mutation_p.L2252V	p.L2252V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6914	-			2252			BNR 10.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6754C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	6.417	0.445034	0.12164	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.44	5.44	0.79542	Neuraminidase (2);	0.215417	0.40144	N	0.001164	T	0.06735	0.0172	N	0.00823	-1.155	0.38927	D	0.957869	B;B	0.10296	0.003;0.002	B;B	0.10450	0.003;0.005	T	0.36163	-0.9759	10	0.11182	T	0.66	.	12.9189	0.58220	0.0745:0.0:0.9255:0.0	.	2252;2252	P78509-2;P78509	.;RELN_HUMAN	V	2252	ENSP00000392423:L2252V;ENSP00000345694:L2252V;ENSP00000388446:L2252V	ENSP00000345694:L2252V	L	-	1	0	RELN	102968056	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	5.412000	0.66392	2.717000	0.92951	0.655000	0.94253	CTC		PASS	0.502	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		48	69	48	69	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103205825	103205825	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:103205825G>A	ENST00000428762.1	-	34	5269	c.5110C>T	c.(5110-5112)Cca>Tca	p.P1704S	RELN_ENST00000343529.5_Missense_Mutation_p.P1704S|RELN_ENST00000424685.2_Missense_Mutation_p.P1704S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1704					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P1704S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAATGGTTGGAGGAACACAC	0.493																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5110-5112)CCA>TCA		reelin isoform a							149.0	125.0	133.0					7																	103205825		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103205825G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5110C>T	7.37:g.103205825G>A	ENSP00000392423:p.Pro1704Ser					RELN_uc010liz.2_Missense_Mutation_p.P1704S	p.P1704S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5270	-			1704					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5110C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723900	0.68959	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.47869	2.08;0.83;2.08	6.02	6.02	0.97574	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.31420	0.93	0.80722	D	1	P;D	0.71674	0.699;0.998	P;D	0.77557	0.472;0.99	T	0.53634	-0.8411	10	0.35671	T	0.21	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1704;1704	P78509-2;P78509	.;RELN_HUMAN	S	1704	ENSP00000392423:P1704S;ENSP00000345694:P1704S;ENSP00000388446:P1704S	ENSP00000345694:P1704S	P	-	1	0	RELN	102993061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.865000	0.98341	0.655000	0.94253	CCA		PASS	0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	36	10	36	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103230190	103230190	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:103230190A>G	ENST00000428762.1	-	28	4157	c.3998T>C	c.(3997-3999)cTg>cCg	p.L1333P	RELN_ENST00000343529.5_Missense_Mutation_p.L1333P|RELN_ENST00000424685.2_Missense_Mutation_p.L1333P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1333					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L1333P(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCTTTCACCAGAAACCAGGA	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3997-3999)CTG>CCG		reelin isoform a							156.0	141.0	146.0					7																	103230190		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103230190A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3998T>C	7.37:g.103230190A>G	ENSP00000392423:p.Leu1333Pro					RELN_uc010liz.2_Missense_Mutation_p.L1333P	p.L1333P	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	28	4158	-			1333			BNR 5.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3998T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573399	0.86542	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.42513	1.31;0.97;1.31	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.60495	0.2273	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.973;0.984	T	0.63229	-0.6684	10	0.87932	D	0	.	16.0858	0.81049	1.0:0.0:0.0:0.0	.	1333;1333	P78509-2;P78509	.;RELN_HUMAN	P	1333	ENSP00000392423:L1333P;ENSP00000345694:L1333P;ENSP00000388446:L1333P	ENSP00000345694:L1333P	L	-	2	0	RELN	103017426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.647000	0.91057	2.264000	0.75181	0.533000	0.62120	CTG		PASS	0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		37	79	37	79	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764903	110764903	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:110764903C>G	ENST00000422987.3	+	2	2906	c.2075C>G	c.(2074-2076)aCa>aGa	p.T692R	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T692R|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.T692R|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	692					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T692R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAAAAAAGTACATCACTGAAA	0.353																																						uc003vft.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(2074-2076)ACA>AGA		leucine rich repeat neuronal 3 precursor							62.0	66.0	65.0					7																	110764903		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764903C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2075C>G	7.37:g.110764903C>G	ENSP00000412417:p.Thr692Arg					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.T692R|LRRN3_uc003vfs.3_Missense_Mutation_p.T692R	p.T692R	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3121	+			692			Cytoplasmic (Potential).		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.2075C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050042	0.55218	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.39406	1.08;1.08;1.08	5.57	5.57	0.84162	.	0.212707	0.32785	N	0.005643	T	0.41073	0.1143	L	0.60455	1.87	0.39951	D	0.974531	P	0.43477	0.808	B	0.39706	0.307	T	0.34179	-0.9839	10	0.08599	T	0.76	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	692	Q9H3W5	LRRN3_HUMAN	R	692	ENSP00000312001:T692R;ENSP00000397312:T692R;ENSP00000412417:T692R	ENSP00000312001:T692R	T	+	2	0	LRRN3	110552139	1.000000	0.71417	0.912000	0.35992	0.984000	0.73092	5.971000	0.70440	2.785000	0.95823	0.591000	0.81541	ACA		PASS	0.353	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		9	41	9	41	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519652	113519652	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:113519652C>G	ENST00000284601.3	-	4	1563	c.1495G>C	c.(1495-1497)Gaa>Caa	p.E499Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	499					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E499Q(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTGTTGATTCTTTGAGACAT	0.318																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1495-1497)GAA>CAA		protein phosphatase 1, regulatory (inhibitor)							64.0	61.0	62.0					7																	113519652		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519652C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1495G>C	7.37:g.113519652C>G	ENSP00000284601:p.Glu499Gln						p.E499Q	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1526	-			499					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1495G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	7.162	0.585990	0.13749	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.33438	2.3;1.41	6.02	-0.12	0.13539	.	0.761212	0.12028	N	0.506299	T	0.28034	0.0691	L	0.56769	1.78	0.09310	N	1	B	0.14012	0.009	B	0.18561	0.022	T	0.25433	-1.0132	10	0.42905	T	0.14	-0.597	8.7377	0.34539	0.0:0.5504:0.0954:0.3543	.	499	Q16821	PPR3A_HUMAN	Q	499;178	ENSP00000284601:E499Q;ENSP00000401278:E178Q	ENSP00000284601:E499Q	E	-	1	0	PPP1R3A	113306888	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.007000	0.12810	-0.290000	0.09025	-0.797000	0.03246	GAA		PASS	0.318	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		16	31	16	31	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121668637	121668637	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:121668637G>T	ENST00000393386.2	+	14	5431	c.5020G>T	c.(5020-5022)Gag>Tag	p.E1674*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E814*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1674					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1674*(1)|p.D1674Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTTACTTAGAGGACAGTAC	0.388																																						uc003vjy.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5020-5022)GAG>TAG		protein tyrosine phosphatase, receptor-type,							178.0	152.0	161.0					7																	121668637		2203	4300	6503	SO:0001587	stop_gained	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121668637G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5020G>T	7.37:g.121668637G>T	ENSP00000377047:p.Glu1674*					PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.E814*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.E264*	p.E1674*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			14	5415	+			1674			Cytoplasmic (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	c.5020G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	42	9.730533	0.99249	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0637	0.97700	0.0:0.0:1.0:0.0	.	.	.	.	X	1674;814	.	ENSP00000377047:E1674X	E	+	1	0	PTPRZ1	121455873	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.140000	0.71738	2.751000	0.94390	0.650000	0.86243	GAG		PASS	0.388	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	33	5	33	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121944015	121944015	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:121944015G>T	ENST00000442488.2	-	1	544	c.477C>A	c.(475-477)gcC>gcA	p.A159A	FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Intron|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Silent_p.A159A	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	159					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.A159A(2)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGTAGCACAAGGCGCCCATGG	0.657																																						uc003vkd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(475-477)GCC>GCA		FEZ family zinc finger 1 isoform 1							13.0	13.0	13.0					7																	121944015		2202	4298	6500	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944015G>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.477C>A	7.37:g.121944015G>T						FEZF1_uc003vkc.2_Intron|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.A159A	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	551	-			159					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.477C>A	CCDS34741.2																																																																																				PASS	0.657	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		5	3	5	3	---	---	---	---
AKR1B15	441282	broad.mit.edu	37	7	134253033	134253033	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:134253033C>A	ENST00000457545.2	+	4	534	c.274C>A	c.(274-276)Caa>Aaa	p.Q92K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.Q64K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	92							oxidoreductase activity (GO:0016491)	p.Q64K(2)|p.Q92K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGAGAAGATCCAAGAGAAGGC	0.512																																						uc011kpr.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(274-276)CAA>AAA		aldo-keto reductase family 1, member B15							167.0	171.0	170.0					7																	134253033		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134253033C>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.274C>A	7.37:g.134253033C>A	ENSP00000389289:p.Gln92Lys					AKR1B15_uc003vrt.2_Missense_Mutation_p.Q64K|AKR1B15_uc011kps.1_Missense_Mutation_p.Q64K	p.Q92K	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			4	573	+			92					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.274C>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.826497	0.00584	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.15834	2.39;2.39	2.72	-5.44	0.02624	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.03608	0.0103	N	0.00633	-1.31	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.14023	0.0;0.002;0.01	T	0.45411	-0.9263	9	0.14252	T	0.57	.	6.9001	0.24277	0.7012:0.1817:0.0:0.1171	.	64;92;64	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	K	92;64	ENSP00000389289:Q92K;ENSP00000397009:Q64K	ENSP00000397009:Q64K	Q	+	1	0	AKR1B15	133903573	0.000000	0.05858	0.559000	0.28332	0.154000	0.21943	-2.095000	0.01350	-0.916000	0.03818	-0.358000	0.07595	CAA		PASS	0.512	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			8	152	8	152	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136699829	136699829	+	Missense_Mutation	SNP	G	G	T	rs11773032		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:136699829G>T	ENST00000445907.2	+	3	745	c.217G>T	c.(217-219)Ggt>Tgt	p.G73C	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G73C|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G73C|CHRM2_ENST00000453373.1_Missense_Mutation_p.G73C|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.G73C|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G73C	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	73					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.G73C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTTATCATAGGTGTTTTCTC	0.478																																						uc003vtf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(217-219)GGT>TGT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						224.0	194.0	204.0					7																	136699829		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699829G>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.217G>T	7.37:g.136699829G>T	ENSP00000399745:p.Gly73Cys					CHRM2_uc003vtg.1_Missense_Mutation_p.G73C|CHRM2_uc003vtj.1_Missense_Mutation_p.G73C|CHRM2_uc003vtk.1_Missense_Mutation_p.G73C|CHRM2_uc003vtl.1_Missense_Mutation_p.G73C|CHRM2_uc003vtm.1_Missense_Mutation_p.G73C|CHRM2_uc003vti.1_Missense_Mutation_p.G73C|CHRM2_uc003vto.1_Missense_Mutation_p.G73C|CHRM2_uc003vtn.1_Missense_Mutation_p.G73C|uc003vtp.1_Intron	p.G73C	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	840	+			73			Helical; Name=2; (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.217G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958259	0.73902	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72239	-0.4351	10	0.87932	D	0	-4.7317	19.2407	0.93881	0.0:0.0:1.0:0.0	.	73	P08172	ACM2_HUMAN	C	73	ENSP00000399745:G73C;ENSP00000415386:G73C;ENSP00000319984:G73C;ENSP00000380733:G73C;ENSP00000384937:G73C;ENSP00000384401:G73C	ENSP00000319984:G73C	G	+	1	0	CHRM2	136350369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.546000	0.85860	0.644000	0.83932	GGT		PASS	0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			6	89	6	89	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137172424	137172424	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:137172424C>A	ENST00000288490.5	-	23	2314	c.2314G>T	c.(2314-2316)Ggt>Tgt	p.G772C	DGKI_ENST00000453654.2_Missense_Mutation_p.G472C|DGKI_ENST00000424189.2_Missense_Mutation_p.G775C|DGKI_ENST00000446122.1_Missense_Mutation_p.G754C	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	772					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.G772C(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACTAGAATACCCAGAGGTATC	0.363																																						uc003vtt.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|kidney(1)|skin(1)	3						c.(2314-2316)GGT>TGT		diacylglycerol kinase, iota							130.0	134.0	133.0					7																	137172424		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137172424C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2314G>T	7.37:g.137172424C>A	ENSP00000288490:p.Gly772Cys					DGKI_uc003vtu.2_Missense_Mutation_p.G472C	p.G772C	NM_004717	NP_004708	O75912	DGKI_HUMAN			23	2315	-			772					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2314G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242326	0.79912	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.40225	1.43;1.04;1.25	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69895	-0.5021	10	0.87932	D	0	.	19.0482	0.93030	0.0:1.0:0.0:0.0	.	472;772	E9PFX6;O75912	.;DGKI_HUMAN	C	472;720;775;772;754	ENSP00000392161:G472C;ENSP00000288490:G772C;ENSP00000399131:G754C	ENSP00000288490:G772C	G	-	1	0	DGKI	136822964	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.102000	0.64572	2.808000	0.96608	0.650000	0.86243	GGT		PASS	0.363	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	161	8	161	---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148769495	148769495	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:148769495G>T	ENST00000491431.1	-	4	433	c.369C>A	c.(367-369)tcC>tcA	p.S123S	ZNF786_ENST00000451334.3_Silent_p.S86S|ZNF786_ENST00000316286.9_Silent_p.S37S	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	123					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.S122S(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGATCCAAAGGAACACTGGC	0.507																																						uc003wfh.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(367-369)TCC>TCA		zinc finger protein 786							55.0	53.0	53.0					7																	148769495		1934	4130	6064	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769495G>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.369C>A	7.37:g.148769495G>T						ZNF786_uc011kuk.1_Silent_p.S86S|ZNF786_uc003wfi.2_Silent_p.S37S	p.S123S	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	506	-	Melanoma(164;0.15)		123					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.369C>A	CCDS47738.1																																																																																				PASS	0.507	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		4	18	4	18	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158439183	158439183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr7:158439183C>A	ENST00000409423.1	-	26	3320	c.3148G>T	c.(3148-3150)Gga>Tga	p.G1050*	NCAPG2_ENST00000409339.3_Nonsense_Mutation_p.G1050*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.G1050*|NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.G1050*|NCAPG2_ENST00000541468.1_Nonsense_Mutation_p.G504*|NCAPG2_ENST00000275830.10_Nonsense_Mutation_p.G795*	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	1050					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.G1050*(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATTATTATTCCTATTAAACAC	0.398																																						uc003wnv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(3148-3150)GGA>TGA		leucine zipper protein 5							79.0	79.0	79.0					7																	158439183		1839	4088	5927	SO:0001587	stop_gained	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158439183C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.3148G>T	7.37:g.158439183C>A	ENSP00000386569:p.Gly1050*					NCAPG2_uc010lqu.1_Nonsense_Mutation_p.G795*|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.G1050*|NCAPG2_uc011kwe.1_Nonsense_Mutation_p.G1050*|NCAPG2_uc011kwc.1_Nonsense_Mutation_p.G504*|NCAPG2_uc011kwd.1_Nonsense_Mutation_p.G493*	p.G1050*	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	25	3293	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	1050					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	ENST00000409423.1	37	c.3148G>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.102220|6.102220	0.97286|0.97286	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	.|.	.|.	.|.	5.43|5.43	4.55|4.55	0.56014|0.56014	.|.	0.503937|.	0.21754|.	N|.	0.069628|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.40728|.	T|.	0.16|.	-26.9782|-26.9782	9.3332|9.3332	0.38034|0.38034	0.0:0.8451:0.0:0.1549|0.0:0.8451:0.0:0.1549	.|.	.|.	.|.	.|.	X|Y	504;1050;1050;795;1050;493;1050|804	.|.	ENSP00000275830:G795X|.	G|X	-|-	1|3	0|2	NCAPG2|NCAPG2	158131944|158131944	0.958000|0.958000	0.32768|0.32768	1.000000|1.000000	0.80357|0.80357	0.478000|0.478000	0.33099|0.33099	0.138000|0.138000	0.16016|0.16016	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	GGA|TAG		PASS	0.398	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		6	38	6	38	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20031914	20031914	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:20031914G>C	ENST00000276373.5	-	5	855	c.589C>G	c.(589-591)Cga>Gga	p.R197G	SLC18A1_ENST00000265808.7_Missense_Mutation_p.R197G|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R197G|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R197G|SLC18A1_ENST00000440926.1_Missense_Mutation_p.R197G|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R197G|SLC18A1_ENST00000524272.1_5'UTR	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	197					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.R197G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TGAAGGGTTCGGGCCACAAAG	0.473																																						uc011kyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(589-591)CGA>GGA		solute carrier family 18 (vesicular monoamine),							154.0	134.0	141.0					8																	20031914		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20031914G>C		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.589C>G	8.37:g.20031914G>C	ENSP00000276373:p.Arg197Gly					SLC18A1_uc003wzl.2_5'Flank|SLC18A1_uc003wzm.2_Missense_Mutation_p.R197G|SLC18A1_uc011kyr.1_Missense_Mutation_p.R197G|SLC18A1_uc003wzn.2_Missense_Mutation_p.R197G|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.R197G	p.R197G	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	6	1060	-			197			Lumenal, vesicle (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.589C>G	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644239	0.47258	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.6	4.71	0.59529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054237	0.85682	D	0.000000	D	0.85733	0.5765	H	0.94345	3.525	0.58432	D	0.999993	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.97110	0.919;0.999;1.0	D	0.89084	0.3478	10	0.87932	D	0	-8.6207	12.5426	0.56179	0.0:0.0:0.6972:0.3028	.	197;197;197	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	G	197	ENSP00000265808:R197G;ENSP00000276373:R197G;ENSP00000387549:R197G;ENSP00000413361:R197G;ENSP00000429664:R197G;ENSP00000371021:R197G	ENSP00000265808:R197G	R	-	1	2	SLC18A1	20076194	0.923000	0.31300	0.696000	0.30242	0.283000	0.27025	1.314000	0.33597	1.454000	0.47793	0.655000	0.94253	CGA		PASS	0.473	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			16	17	16	17	---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22862901	22862901	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:22862901G>T	ENST00000251822.6	+	3	746	c.209G>T	c.(208-210)cGa>cTa	p.R70L	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R92L|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R77L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	70	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.R70L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAACGCTCCCGAGACGTGGTA	0.607																																						uc003xcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(208-210)CGA>CTA		Rho-related BTB domain containing 2 isoform 3							91.0	85.0	87.0					8																	22862901		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22862901G>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.209G>T	8.37:g.22862901G>T	ENSP00000251822:p.Arg70Leu					RHOBTB2_uc003xcp.2_Missense_Mutation_p.R92L|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R77L	p.R70L	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	3	746	+		Prostate(55;0.0513)|Breast(100;0.214)	70			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.209G>T	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934763	0.92458	.	.	ENSG00000008853	ENST00000519685;ENST00000524077;ENST00000522948;ENST00000251822	T;T;T;T	0.27890	2.95;1.64;2.95;2.95	4.95	4.95	0.65309	.	0.061340	0.64402	N	0.000004	T	0.34803	0.0910	N	0.04820	-0.15	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.984;0.984;0.994	T	0.44019	-0.9355	10	0.42905	T	0.14	.	16.925	0.86174	0.0:0.0:1.0:0.0	.	77;70;92	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	L	92;92;77;70	ENSP00000427926:R92L;ENSP00000430785:R92L;ENSP00000429141:R77L;ENSP00000251822:R70L	ENSP00000251822:R70L	R	+	2	0	RHOBTB2	22918846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.644000	0.98468	2.546000	0.85860	0.655000	0.94253	CGA		PASS	0.607	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			4	40	4	40	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24775752	24775752	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:24775752C>A	ENST00000221166.5	+	3	3166	c.2384C>A	c.(2383-2385)tCc>tAc	p.S795Y	NEFM_ENST00000433454.2_Missense_Mutation_p.S419Y|NEFM_ENST00000437366.2_Missense_Mutation_p.S756Y|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	795	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.S795Y(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gccaagggatccaggaaggaa	0.532																																						uc003xed.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2383-2385)TCC>TAC		neurofilament, medium polypeptide 150kDa isoform							50.0	37.0	42.0					8																	24775752		2197	4291	6488	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775752C>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2384C>A	8.37:g.24775752C>A	ENSP00000221166:p.Ser795Tyr					NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Missense_Mutation_p.S419Y	p.S795Y	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2417	+		Prostate(55;0.157)	795			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2384C>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676180	0.14841	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.94793	-1.94;-1.83;-3.52	4.6	4.6	0.57074	.	0.154471	0.30177	N	0.010229	D	0.91858	0.7423	M	0.62723	1.935	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	D	0.85384	0.1121	10	0.72032	D	0.01	.	8.3738	0.32432	0.1531:0.7648:0.0:0.082	.	795	P07197	NFM_HUMAN	Y	795;756;419	ENSP00000221166:S795Y;ENSP00000410137:S756Y;ENSP00000412295:S419Y	ENSP00000221166:S795Y	S	+	2	0	NEFM	24831657	0.335000	0.24748	0.573000	0.28510	0.142000	0.21351	1.119000	0.31258	2.249000	0.74217	0.543000	0.68304	TCC		PASS	0.532	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		3	3	3	3	---	---	---	---
WRN	7486	broad.mit.edu	37	8	31007883	31007883	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:31007883G>T	ENST00000298139.5	+	31	3848	c.3599G>T	c.(3598-3600)aGg>aTg	p.R1200M		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1200	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.R1200M(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AACGTAAAAAGGATTGATGGT	0.388			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(3598-3600)AGG>ATG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							125.0	118.0	120.0					8																	31007883		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31007883G>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3599G>T	8.37:g.31007883G>T	ENSP00000298139:p.Arg1200Met					WRN_uc010lvk.2_Missense_Mutation_p.R667M	p.R1200M	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	31	4387	+		Breast(100;0.195)	1200			HRDC.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3599G>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883757	0.17467	.	.	ENSG00000165392	ENST00000298139	T	0.46063	0.88	5.06	-3.22	0.05125	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.690037	0.14295	N	0.328692	T	0.34803	0.0910	M	0.72118	2.19	0.23628	N	0.997255	B;B	0.25272	0.01;0.122	B;B	0.31614	0.03;0.133	T	0.39210	-0.9625	10	0.45353	T	0.12	-0.0104	2.4761	0.04576	0.455:0.1169:0.3098:0.1183	.	610;1200	Q59F09;Q14191	.;WRN_HUMAN	M	1200	ENSP00000298139:R1200M	ENSP00000298139:R1200M	R	+	2	0	WRN	31127425	0.994000	0.37717	0.910000	0.35882	0.119000	0.20118	0.233000	0.17911	-0.187000	0.10516	-0.345000	0.07892	AGG		PASS	0.388	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	51	5	51	---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37986347	37986347	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:37986347C>A	ENST00000343823.6	+	12	1714	c.1405C>A	c.(1405-1407)Cac>Aac	p.H469N	ASH2L_ENST00000428278.2_Missense_Mutation_p.H375N|ASH2L_ENST00000545394.1_Missense_Mutation_p.H330N|ASH2L_ENST00000521652.1_Missense_Mutation_p.H375N|ASH2L_ENST00000250635.7_Missense_Mutation_p.H375N	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	469	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.H469N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AACCAAGTTCCACCAGTCCAT	0.423																																						uc003xkt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1405-1407)CAC>AAC		ash2-like isoform a							197.0	205.0	202.0					8																	37986347		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37986347C>A	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1405C>A	8.37:g.37986347C>A	ENSP00000340896:p.His469Asn					ASH2L_uc011lbk.1_Missense_Mutation_p.H330N|ASH2L_uc003xku.3_Missense_Mutation_p.H375N|ASH2L_uc010lwa.2_Missense_Mutation_p.H375N	p.H469N	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN			12	1463	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	469			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.1405C>A	CCDS6101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.400347|4.400347	0.83120|0.83120	.|.	.|.	ENSG00000129691|ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652|ENST00000524247	T;T;T;T;T|.	0.79554|.	-1.28;-1.28;-1.28;-1.28;-1.28|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);|.	0.041393|.	0.85682|.	D|.	0.000000|.	D|D	0.82604|0.82604	0.5073|0.5073	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	P;P|.	0.49358|.	0.923;0.503|.	D;B|.	0.63283|.	0.913;0.274|.	T|T	0.83113|0.83113	-0.0122|-0.0122	10|5	0.66056|.	D|.	0.02|.	.|.	19.7345|19.7345	0.96198|0.96198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	375;469|.	Q9UBL3-2;Q9UBL3|.	.;ASH2L_HUMAN|.	N|Q	469;375;330;375;375|64	ENSP00000340896:H469N;ENSP00000250635:H375N;ENSP00000443606:H330N;ENSP00000395310:H375N;ENSP00000430259:H375N|.	ENSP00000250635:H375N|.	H|P	+|+	1|2	0|0	ASH2L|ASH2L	38105504|38105504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.792000|7.792000	0.85828|0.85828	2.672000|2.672000	0.90937|0.90937	0.485000|0.485000	0.47835|0.47835	CAC|CCA		PASS	0.423	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		9	383	9	383	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52252201	52252201	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:52252201T>C	ENST00000356297.4	-	21	4229	c.4129A>G	c.(4129-4131)Aca>Gca	p.T1377A	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1377					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T1377A(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGAGTGCTGTGATGGTTTCC	0.388																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4129-4131)ACA>GCA		peroxidasin homolog-like precursor							138.0	134.0	135.0					8																	52252201		1887	4103	5990	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52252201T>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4129A>G	8.37:g.52252201T>C	ENSP00000348645:p.Thr1377Ala					PXDNL_uc003xqt.3_Intron	p.T1377A	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			21	4230	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1377					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4129A>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	0.979	-0.697630	0.03279	.	.	ENSG00000147485	ENST00000356297	T	0.63913	-0.07	5.0	2.63	0.31362	.	.	.	.	.	T	0.46425	0.1392	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.29336	-1.0015	9	0.27082	T	0.32	.	6.4428	0.21859	0.0:0.1981:0.0:0.8019	.	1377	A1KZ92	PXDNL_HUMAN	A	1377	ENSP00000348645:T1377A	ENSP00000348645:T1377A	T	-	1	0	PXDNL	52414754	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	0.640000	0.24705	0.269000	0.21961	-0.326000	0.08463	ACA		PASS	0.388	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		28	59	28	59	---	---	---	---
RRS1	23212	broad.mit.edu	37	8	67342384	67342384	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:67342384G>T	ENST00000320270.2	+	1	1122	c.1018G>T	c.(1018-1020)Ggc>Tgc	p.G340C	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	340	Arg/Gly/Lys-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G340C(1)		kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGGCTTGGGAGGCAAGATGAA	0.617																																						uc003xwa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GGC>TGC		homolog of yeast ribosome biogenesis regulatory							40.0	50.0	47.0					8																	67342384		2190	4291	6481	SO:0001583	missense	23212				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus		g.chr8:67342384G>T	BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.1018G>T	8.37:g.67342384G>T	ENSP00000322396:p.Gly340Cys					ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	p.G340C	NM_015169	NP_055984	Q15050	RRS1_HUMAN	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	1122	+		Lung NSC(129;0.197)	340			Arg/Gly/Lys-rich.		Q9BUX8	Missense_Mutation	SNP	ENST00000320270.2	37	c.1018G>T	CCDS6189.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615513	0.28801	.	.	ENSG00000179041	ENST00000320270	D	0.89415	-2.51	5.06	1.12	0.20585	.	0.347855	0.27664	N	0.018371	D	0.84356	0.5454	L	0.50333	1.59	0.26830	N	0.968609	P	0.36990	0.577	B	0.38954	0.286	T	0.75883	-0.3160	10	0.48119	T	0.1	-12.2589	9.1831	0.37154	0.393:0.0:0.607:0.0	.	340	Q15050	RRS1_HUMAN	C	340	ENSP00000322396:G340C	ENSP00000322396:G340C	G	+	1	0	RRS1	67504938	0.613000	0.27009	0.991000	0.47740	0.630000	0.37929	0.362000	0.20284	0.254000	0.21573	0.537000	0.68136	GGC		PASS	0.617	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		5	61	5	61	---	---	---	---
COPS5	10987	broad.mit.edu	37	8	67970422	67970422	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:67970422C>A	ENST00000357849.4	-	3	723	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	PPP1R42_ENST00000517834.1_5'Flank|COPS5_ENST00000519963.1_5'Flank|AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000517736.1_Missense_Mutation_p.G71W	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	135	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.G135W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGATACCACCCGATTGCATTT	0.423																																						uc003xxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(403-405)GGG>TGG		COP9 signalosome subunit 5							59.0	56.0	57.0					8																	67970422		2203	4300	6503	SO:0001583	missense	10987				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	g.chr8:67970422C>A	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.403G>T	8.37:g.67970422C>A	ENSP00000350512:p.Gly135Trp					COPS5_uc003xxd.2_Missense_Mutation_p.G71W|COPS5_uc003xxf.2_Missense_Mutation_p.G180W|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.G135W	p.G135W	NM_006837	NP_006828	Q92905	CSN5_HUMAN	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)		3	734	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	135			MPN.		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	37	c.403G>T	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108788	0.94292	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	T;T;T	0.79352	-1.26;-1.26;-1.26	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	H	0.98936	4.375	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	0.95790	0.8824	10	0.87932	D	0	-6.6936	19.7382	0.96215	0.0:1.0:0.0:0.0	.	104;71;135	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	W	135;71;71	ENSP00000350512:G135W;ENSP00000429774:G71W;ENSP00000428586:G71W	ENSP00000350512:G135W	G	-	1	0	COPS5	68132976	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.729000	0.84864	2.744000	0.94065	0.650000	0.86243	GGG		PASS	0.423	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			19	31	19	31	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767585	77767585	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:77767585A>G	ENST00000521891.2	+	10	8876	c.8428A>G	c.(8428-8430)Atc>Gtc	p.I2810V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I2765V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I2784V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I2765V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2765					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.I2794V(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)			TAATACGGCAATCAGTGACGC	0.468										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8293-8295)ATC>GTC		zinc finger homeodomain 4							45.0	45.0	45.0					8																	77767585		1948	4150	6098	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767585A>G		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.8428A>G	8.37:g.77767585A>G	ENSP00000430497:p.Ile2810Val	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.I2810V|ZFHX4_uc003yaw.1_Missense_Mutation_p.I2765V	p.I2765V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8680	+			2765					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8293A>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	6.768	0.510563	0.12883	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57752	0.38;0.45;0.42;0.41	4.82	4.82	0.62117	.	0.146929	0.30676	U	0.009119	T	0.47619	0.1455	L	0.41824	1.3	0.46701	D	0.999168	B;B;B	0.28324	0.131;0.207;0.207	B;B;B	0.33846	0.082;0.171;0.171	T	0.46470	-0.9189	10	0.40728	T	0.16	.	14.5476	0.68044	1.0:0.0:0.0:0.0	.	2765;2765;2810	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2810;2794;2765;2765;2784	ENSP00000430497:I2810V;ENSP00000399605:I2765V;ENSP00000050961:I2765V;ENSP00000430848:I2784V	ENSP00000050961:I2765V	I	+	1	0	ZFHX4	77930140	1.000000	0.71417	0.890000	0.34922	0.462000	0.32619	6.105000	0.71505	2.033000	0.60031	0.454000	0.30748	ATC		PASS	0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	55	17	55	---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90782012	90782012	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:90782012G>T	ENST00000220751.4	+	4	810	c.496G>T	c.(496-498)Ggt>Tgt	p.G166C	RIPK2_ENST00000540020.1_Missense_Mutation_p.G29C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.G166C(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGCAGATTTTGGTTTATCAAA	0.363																																						uc003yee.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(496-498)GGT>TGT		receptor-interacting serine-threonine kinase 2							147.0	153.0	151.0					8																	90782012		2203	4299	6502	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90782012G>T	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.496G>T	8.37:g.90782012G>T	ENSP00000220751:p.Gly166Cys					RIPK2_uc003yef.2_Missense_Mutation_p.G29C	p.G166C	NM_003821	NP_003812	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		4	810	+			166			Protein kinase.		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.496G>T	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601674	0.87055	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	D;D	0.92858	-1.63;-3.12	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000531	D	0.97682	0.9240	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98474	1.0602	10	0.87932	D	0	-19.8595	19.3887	0.94570	0.0:0.0:1.0:0.0	.	166	O43353	RIPK2_HUMAN	C	166;29	ENSP00000220751:G166C;ENSP00000441623:G29C	ENSP00000220751:G166C	G	+	1	0	RIPK2	90851149	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.350000	0.97070	2.826000	0.97356	0.655000	0.94253	GGT		PASS	0.363	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			6	127	6	127	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93017415	93017415	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:93017415G>T	ENST00000523629.1	-	6	1123	c.669C>A	c.(667-669)acC>acA	p.T223T	RUNX1T1_ENST00000520724.1_Silent_p.T186T|RUNX1T1_ENST00000422361.2_Silent_p.T186T|RUNX1T1_ENST00000436581.2_Silent_p.T234T|RUNX1T1_ENST00000360348.2_Silent_p.T186T|RUNX1T1_ENST00000521553.1_Silent_p.T186T|RUNX1T1_ENST00000396218.1_Silent_p.T196T|RUNX1T1_ENST00000265814.3_Silent_p.T223T|RUNX1T1_ENST00000518844.1_Silent_p.T196T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	223					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T223T(1)|p.T186T(1)|p.T234T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGGTGAGGTGGTGCTGGCAT	0.592																																						uc003yfd.2																			3	Substitution - coding silent(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(667-669)ACC>ACA		acute myelogenous leukemia 1 translocation 1							194.0	156.0	169.0					8																	93017415		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017415G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.669C>A	8.37:g.93017415G>T						RUNX1T1_uc003yfc.1_Silent_p.T196T|RUNX1T1_uc003yfe.1_Silent_p.T186T|RUNX1T1_uc010mao.2_Silent_p.T196T|RUNX1T1_uc011lgi.1_Silent_p.T234T|RUNX1T1_uc003yfb.1_Silent_p.T186T|RUNX1T1_uc003yff.1_Silent_p.T186T	p.T223T	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	753	-			223					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.669C>A	CCDS6256.1																																																																																				PASS	0.592	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		31	68	31	68	---	---	---	---
ANKRD46	157567	broad.mit.edu	37	8	101540109	101540109	+	Nonsense_Mutation	SNP	G	G	T	rs140674239		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:101540109G>T	ENST00000520552.1	-	4	595	c.434C>A	c.(433-435)tCg>tAg	p.S145*	ANKRD46_ENST00000335659.3_Nonsense_Mutation_p.S145*|ANKRD46_ENST00000519316.1_Intron|ANKRD46_ENST00000519597.1_Nonsense_Mutation_p.S145*|ANKRD46_ENST00000520311.1_Nonsense_Mutation_p.S145*	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	145						integral component of membrane (GO:0016021)		p.S145*(4)		kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTCCAGTTTCGAGTGGGTTCC	0.428																																						uc003yjm.2																			4	Substitution - Nonsense(4)		lung(4)		0						c.(433-435)TCG>TAG		ankyrin repeat domain 46							184.0	172.0	176.0					8																	101540109		2203	4300	6503	SO:0001587	stop_gained	157567					integral to membrane		g.chr8:101540109G>T	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.434C>A	8.37:g.101540109G>T	ENSP00000429015:p.Ser145*					ANKRD46_uc003yjn.1_Nonsense_Mutation_p.S145*|ANKRD46_uc003yjo.1_Nonsense_Mutation_p.S145*|ANKRD46_uc003yjp.1_Nonsense_Mutation_p.S145*	p.S145*	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		4	638	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		145					Q6P9B7	Nonsense_Mutation	SNP	ENST00000520552.1	37	c.434C>A	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	G	45	11.285889	0.99542	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000358990	.	.	.	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-14.2175	16.6868	0.85310	0.0:0.1296:0.8704:0.0	.	.	.	.	X	145	.	ENSP00000335287:S145X	S	-	2	0	ANKRD46	101609285	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	9.746000	0.98859	1.380000	0.46344	0.563000	0.77884	TCG		PASS	0.428	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		6	76	6	76	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898026	104898026	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:104898026G>T	ENST00000436393.2	+	2	774	c.533G>T	c.(532-534)cGt>cTt	p.R178L	RIMS2_ENST00000262231.10_Missense_Mutation_p.R208L|RIMS2_ENST00000406091.3_Missense_Mutation_p.R400L|RIMS2_ENST00000507740.1_Missense_Mutation_p.R208L|RIMS2_ENST00000522174.1_3'UTR			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	431	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R208L(2)|p.R436L(1)|p.R178L(1)|p.R400L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATATCAGAACGTAGAGCTGCC	0.433										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(532-534)CGT>CTT		regulating synaptic membrane exocytosis 2							72.0	69.0	70.0					8																	104898026		1918	4129	6047	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898026G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.533G>T	8.37:g.104898026G>T	ENSP00000390665:p.Arg178Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.R400L|RIMS2_uc003ylw.2_Missense_Mutation_p.R208L|RIMS2_uc003ylq.2_Missense_Mutation_p.R208L|RIMS2_uc003ylr.2_Missense_Mutation_p.R208L	p.R178L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	774	+			431					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.533G>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.213588	0.79352	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.52	4.64	0.57946	.	.	.	.	.	T	0.62804	0.2458	L	0.48642	1.525	0.80722	D	1	P;D;D;D;P	0.76494	0.801;0.997;0.979;0.999;0.931	P;D;P;D;P	0.83275	0.509;0.996;0.861;0.916;0.697	T	0.66256	-0.5969	9	0.72032	D	0.01	.	15.7455	0.77936	0.0:0.0:0.8622:0.1378	.	431;178;208;208;400	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	400;431;400;431;208;208;208;208;178	ENSP00000427018:R400L;ENSP00000384892:R400L;ENSP00000425205:R208L;ENSP00000262231:R208L;ENSP00000423559:R208L;ENSP00000386228:R208L;ENSP00000390665:R178L	ENSP00000262231:R208L	R	+	2	0	RIMS2	104967202	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.987000	0.93497	1.312000	0.45043	0.467000	0.42956	CGT		PASS	0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	23	12	23	---	---	---	---
TRHR	7201	broad.mit.edu	37	8	110131291	110131291	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:110131291G>T	ENST00000518632.1	+	3	1155	c.804G>T	c.(802-804)ctG>ctT	p.L268L	TRHR_ENST00000311762.2_Silent_p.L268L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	268					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.L268L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCAAGATGCTGGCAGTGGTTG	0.408																																						uc003ymz.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(802-804)CTG>CTT		thyrotropin-releasing hormone receptor							242.0	237.0	239.0					8																	110131291		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131291G>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.804G>T	8.37:g.110131291G>T							p.L268L	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	820	+			268			Helical; Name=6; (Potential).		Q2M339	Silent	SNP	ENST00000518632.1	37	c.804G>T	CCDS6311.1																																																																																				PASS	0.408	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			6	152	6	152	---	---	---	---
DEPTOR	64798	broad.mit.edu	37	8	120940802	120940802	+	Silent	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:120940802G>C	ENST00000286234.5	+	2	415	c.285G>C	c.(283-285)cgG>cgC	p.R95R	DEPTOR_ENST00000523492.1_Intron	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	95	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.R95R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TAGCAGACCGGGGCATTATTC	0.433																																						uc003yow.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(283-285)CGG>CGC		DEP domain containing 6							106.0	100.0	102.0					8																	120940802		2203	4300	6503	SO:0001819	synonymous_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120940802G>C		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.285G>C	8.37:g.120940802G>C						DEPDC6_uc011lid.1_Intron	p.R95R	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	472	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		95			DEP 1.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	ENST00000286234.5	37	c.285G>C	CCDS6331.1																																																																																				PASS	0.433	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		34	65	34	65	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150161	133150161	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:133150161C>G	ENST00000388996.4	-	12	2091	c.1671G>C	c.(1669-1671)atG>atC	p.M557I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.M557I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.M437I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	557					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.M557I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCTGGAAAGCATGTCGAGAT	0.458																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1669-1671)ATG>ATC		potassium voltage-gated channel KQT-like protein							139.0	127.0	132.0					8																	133150161		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150161C>G	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1671G>C	8.37:g.133150161C>G	ENSP00000373648:p.Met557Ile					KCNQ3_uc010mdt.2_Missense_Mutation_p.M557I	p.M557I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1896	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		557					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1671G>C	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855424	0.71719	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99698	-6.44;-6.44;-6.44	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	M	0.77616	2.38	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.72338	0.977;0.977	D	0.97940	1.0325	10	0.87932	D	0	-30.6721	18.6955	0.91599	0.0:1.0:0.0:0.0	.	557;557	E7ET42;O43525	.;KCNQ3_HUMAN	I	557;437;557;546;436	ENSP00000373648:M557I;ENSP00000429799:M437I;ENSP00000428790:M557I	ENSP00000373648:M557I	M	-	3	0	KCNQ3	133219343	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.733000	0.93635	0.655000	0.94253	ATG		PASS	0.458	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		45	85	45	85	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142477649	142477649	+	RNA	SNP	C	C	G	rs188832708	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:142477649C>G	ENST00000430863.1	-	0	2253					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.?(1)									GCATGATATCCTGTACAGCGG	0.642													C|||	7	0.00139776	0.0	0.0	5008	,	,		17693	0.005		0.001	False		,,,				2504	0.001					uc003ywi.2																			1	Unknown(1)		lung(1)		0						c.e18-1		hypothetical protein LOC389690							63.0	72.0	69.0					8																	142477649		2084	4228	6312			389690						binding	g.chr8:142477649C>G			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477649C>G						FLJ43860_uc011ljs.1_Splice_Site|FLJ43860_uc010meu.1_Splice_Site	p.D725_splice	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		18	2254	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)								Splice_Site	SNP	ENST00000430863.1	37	c.2173_splice																																																																																					PASS	0.642	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		4	35	4	35	---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378212	144378212	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:144378212C>A	ENST00000330143.3	+	3	776	c.367C>A	c.(367-369)Cgg>Agg	p.R123R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	123					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.R123R(1)		lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CTGGAAGGGGCGGCCTTTCCC	0.677																																						uc003yxy.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)CGG>AGG		zinc finger protein 696							7.0	8.0	8.0					8																	144378212		2158	4243	6401	SO:0001819	synonymous_variant	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378212C>A	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.367C>A	8.37:g.144378212C>A							p.R123R	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	776	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		123					A0AVE2	Silent	SNP	ENST00000330143.3	37	c.367C>A	CCDS6399.1																																																																																				PASS	0.677	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		3	10	3	10	---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144406177	144406177	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:144406177T>C	ENST00000329245.4	-	7	986	c.952A>G	c.(952-954)Atc>Gtc	p.I318V	TOP1MT_ENST00000523676.1_Missense_Mutation_p.I220V|TOP1MT_ENST00000521193.1_Missense_Mutation_p.I220V|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I220V	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	318					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.I318V(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ACCTTATCGATGAAATACAGG	0.607																																						uc003yxz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)ATC>GTC		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						88.0	95.0	93.0					8																	144406177		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406177T>C	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.952A>G	8.37:g.144406177T>C	ENSP00000328835:p.Ile318Val					TOP1MT_uc011lkd.1_Missense_Mutation_p.I220V|TOP1MT_uc011lke.1_Missense_Mutation_p.I220V|TOP1MT_uc010mfb.2_Missense_Mutation_p.I220V|TOP1MT_uc011lkf.1_Missense_Mutation_p.I113V|TOP1MT_uc010mfd.1_Missense_Mutation_p.I113V	p.I318V	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		7	971	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		318					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.952A>G	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803830	0.70682	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	3.67	3.67	0.42095	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.43747	U	0.000525	T	0.71333	0.3327	M	0.91818	3.245	0.58432	D	0.999995	D;D	0.58268	0.982;0.964	D;D	0.65684	0.937;0.934	T	0.77645	-0.2510	10	0.87932	D	0	-8.7198	11.5141	0.50511	0.0:0.0:0.0:1.0	.	113;318	E7ESI1;Q969P6	.;TOP1M_HUMAN	V	318;220;220;220;220	ENSP00000328835:I318V;ENSP00000428369:I220V;ENSP00000429169:I220V;ENSP00000429181:I220V;ENSP00000427998:I220V	ENSP00000328835:I318V	I	-	1	0	TOP1MT	144477552	1.000000	0.71417	0.017000	0.16124	0.267000	0.26476	6.606000	0.74159	1.277000	0.44412	0.338000	0.21704	ATC		PASS	0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		12	36	12	36	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144997715	144997715	+	Missense_Mutation	SNP	G	G	A	rs371501177		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:144997715G>A	ENST00000322810.4	-	31	6962	c.6793C>T	c.(6793-6795)Cgg>Tgg	p.R2265W	PLEC_ENST00000398774.2_Missense_Mutation_p.R2096W|PLEC_ENST00000356346.3_Missense_Mutation_p.R2114W|PLEC_ENST00000357649.2_Missense_Mutation_p.R2132W|PLEC_ENST00000527096.1_Missense_Mutation_p.R2151W|PLEC_ENST00000345136.3_Missense_Mutation_p.R2128W|PLEC_ENST00000354958.2_Missense_Mutation_p.R2106W|PLEC_ENST00000354589.3_Missense_Mutation_p.R2128W|PLEC_ENST00000436759.2_Missense_Mutation_p.R2155W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2265	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R2128W(1)|p.R2155W(1)|p.R2265W(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGAGCCCGGGCCTGTGCC	0.746																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6793-6795)CGG>TGG		plectin isoform 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,3859		0,1,1929	8.0	10.0	10.0		6463,6340,6316,6793,6286,6382,6394,6382	5.0	0.0	8		10	0,8046		0,0,4023	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	101,101,101,101,101,101,101,101	0,1,5952	AA,AG,GG		0.0,0.0259,0.0084	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	2155/4575,2114/4534,2106/4526,2265/4685,2096/4516,2128/4548,2132/4552,2128/4548	144997715	1,11905	1930	4023	5953	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997715G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6793C>T	8.37:g.144997715G>A	ENSP00000323856:p.Arg2265Trp					PLEC_uc003zab.1_Missense_Mutation_p.R2128W|PLEC_uc003zac.1_Missense_Mutation_p.R2132W|PLEC_uc003zad.2_Missense_Mutation_p.R2128W|PLEC_uc003zae.1_Missense_Mutation_p.R2096W|PLEC_uc003zag.1_Missense_Mutation_p.R2106W|PLEC_uc003zah.2_Missense_Mutation_p.R2114W|PLEC_uc003zaj.2_Missense_Mutation_p.R2155W	p.R2265W	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6963	-			2265			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6793C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	3.635	-0.074643	0.07184	2.59E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78707	-1.16;-1.16;-1.2;-1.17;-1.17;-1.16;-1.16;-1.13;-1.16	4.98	4.98	0.66077	.	0.095293	0.42053	U	0.000771	T	0.66781	0.2824	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;P;P;P	0.52842	0.956;0.956;0.956;0.926;0.956;0.956;0.956;0.956	B;P;P;B;P;B;B;B	0.44518	0.401;0.452;0.452;0.226;0.452;0.401;0.401;0.401	T	0.61888	-0.6970	10	0.37606	T	0.19	.	12.1113	0.53840	0.0:0.0:0.7135:0.2865	.	2155;2114;2106;2265;2096;2128;2132;2128	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	2128;2132;2128;2096;2265;2106;2114;2155;2151	ENSP00000344848:R2128W;ENSP00000350277:R2132W;ENSP00000346602:R2128W;ENSP00000381756:R2096W;ENSP00000323856:R2265W;ENSP00000347044:R2106W;ENSP00000348702:R2114W;ENSP00000388180:R2155W;ENSP00000434583:R2151W	ENSP00000323856:R2265W	R	-	1	2	PLEC	145069703	0.003000	0.15002	0.014000	0.15608	0.233000	0.25261	1.156000	0.31712	2.302000	0.77476	0.448000	0.29417	CGG		PASS	0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	4	5	4	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	312050	312050	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:312050C>T	ENST00000453981.1	+	6	737	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	DOCK8_ENST00000469391.1_Missense_Mutation_p.R141W|DOCK8_ENST00000432829.2_Missense_Mutation_p.R141W			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	209					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R209W(1)|p.R141W(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCCTGACAAGCGGCTAGAAAA	0.602																																						uc003zgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)	6						c.(625-627)CGG>TGG		dedicator of cytokinesis 8							83.0	86.0	85.0					9																	312050		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:312050C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.625C>T	9.37:g.312050C>T	ENSP00000408464:p.Arg209Trp					DOCK8_uc011lls.1_Missense_Mutation_p.R209W|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.R141W|DOCK8_uc010mgt.2_Missense_Mutation_p.R141W|DOCK8_uc003zgg.2_Missense_Mutation_p.R141W|DOCK8_uc003zgh.2_RNA	p.R209W	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	6	737	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	209					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.625C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663218	0.67700	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.18338	2.22;2.22;2.22	5.69	1.08	0.20341	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.59436	1.845	0.44275	D	0.997136	D;D;D	0.89917	0.994;1.0;0.994	P;D;P	0.81914	0.696;0.995;0.696	T	0.16453	-1.0402	10	0.46703	T	0.11	.	16.5119	0.84288	0.4515:0.5485:0.0:0.0	.	141;209;209	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	W	209;209;141;141	ENSP00000408464:R209W;ENSP00000394888:R141W;ENSP00000419438:R141W	ENSP00000287364:R209W	R	+	1	2	DOCK8	302050	0.264000	0.24093	0.916000	0.36221	0.571000	0.35966	0.704000	0.25661	0.297000	0.22615	0.563000	0.77884	CGG		PASS	0.602	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		58	28	58	28	---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3270516	3270516	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:3270516A>C	ENST00000382004.3	-	12	1523	c.1212T>G	c.(1210-1212)agT>agG	p.S404R	RFX3_ENST00000358730.2_Missense_Mutation_p.S404R|RFX3_ENST00000302303.1_Missense_Mutation_p.S404R	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	404					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription regulatory region DNA binding (GO:0044212)	p.S404R(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTCTATTTCACTCAGATTGC	0.353																																						uc003zhr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1210-1212)AGT>AGG		regulatory factor X3 isoform b							78.0	74.0	75.0					9																	3270516		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3270516A>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1212T>G	9.37:g.3270516A>C	ENSP00000371434:p.Ser404Arg					RFX3_uc010mhd.2_Missense_Mutation_p.S404R|RFX3_uc003zhs.1_Missense_Mutation_p.S404R	p.S404R	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	12	1524	-			404					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1212T>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	A	9.780	1.174986	0.21704	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.58652	0.32;0.33;0.33	5.71	5.71	0.89125	.	0.040048	0.85682	D	0.000000	T	0.52853	0.1760	L	0.50333	1.59	0.80722	D	1	B;B	0.33512	0.02;0.415	B;B	0.35114	0.021;0.196	T	0.49062	-0.8978	10	0.15952	T	0.53	-12.9732	16.0044	0.80349	1.0:0.0:0.0:0.0	.	404;404	P48380-2;P48380	.;RFX3_HUMAN	R	404	ENSP00000371434:S404R;ENSP00000351574:S404R;ENSP00000303847:S404R	ENSP00000303847:S404R	S	-	3	2	RFX3	3260516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.305000	0.51873	2.191000	0.70037	0.528000	0.53228	AGT		PASS	0.353	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		41	15	41	15	---	---	---	---
ERMP1	79956	broad.mit.edu	37	9	5811144	5811144	+	Missense_Mutation	SNP	G	G	T	rs139768756	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:5811144G>T	ENST00000339450.5	-	7	1383	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	ERMP1_ENST00000381506.3_Missense_Mutation_p.L208M|ERMP1_ENST00000543230.1_Missense_Mutation_p.L10M|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	432						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L432M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TTTTTGCCCAGGTACAAAACA	0.403																																						uc003zjm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1294-1296)CTG>ATG		aminopeptidase Fxna							119.0	110.0	113.0					9																	5811144		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5811144G>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1294C>A	9.37:g.5811144G>T	ENSP00000340427:p.Leu432Met					ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.L46M	p.L432M	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	7	1348	-		Acute lymphoblastic leukemia(23;0.158)	432			Cytoplasmic (Potential).		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1294C>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743207	0.49151	.	.	ENSG00000099219	ENST00000339450;ENST00000543230;ENST00000381506	T	0.54071	0.59	5.9	4.91	0.64330	.	0.184196	0.39834	N	0.001243	T	0.39009	0.1062	L	0.48642	1.525	0.50467	D	0.999879	P	0.45531	0.86	B	0.37692	0.256	T	0.30327	-0.9982	10	0.42905	T	0.14	-10.3125	5.45	0.16560	0.1347:0.0:0.659:0.2063	.	432	Q7Z2K6	ERMP1_HUMAN	M	432;10;208	ENSP00000340427:L432M	ENSP00000340427:L432M	L	-	1	2	ERMP1	5801144	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.425000	0.34859	2.806000	0.96561	0.655000	0.94253	CTG		PASS	0.403	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		5	77	5	77	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6014019	6014019	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:6014019G>A	ENST00000259569.5	-	1	1599	c.1589C>T	c.(1588-1590)aCa>aTa	p.T530I	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	530					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T530I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTCTTCTATTGTATCTGCAAC	0.388																																						uc003zjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1588-1590)ACA>ATA		RAN binding protein 6							65.0	65.0	65.0					9																	6014019		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014019G>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1589C>T	9.37:g.6014019G>A	ENSP00000259569:p.Thr530Ile					RANBP6_uc011lmf.1_Missense_Mutation_p.T178I|RANBP6_uc003zjs.2_Missense_Mutation_p.T118I	p.T530I	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1600	-		Acute lymphoblastic leukemia(23;0.158)	530					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1589C>T	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759571	0.49468	.	.	ENSG00000137040	ENST00000259569	T	0.25085	1.82	3.85	2.94	0.34122	Armadillo-like helical (1);Armadillo-type fold (1);	0.055325	0.64402	U	0.000001	T	0.40956	0.1138	M	0.72576	2.205	0.58432	D	0.999992	D;D	0.59357	0.985;0.985	P;P	0.56751	0.805;0.805	T	0.38845	-0.9642	10	0.87932	D	0	-0.9979	10.1255	0.42648	0.1015:0.0:0.8985:0.0	.	118;530	B4DTX6;O60518	.;RNBP6_HUMAN	I	530	ENSP00000259569:T530I	ENSP00000259569:T530I	T	-	2	0	RANBP6	6004019	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	5.431000	0.66507	1.174000	0.42811	0.650000	0.86243	ACA		PASS	0.388	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		51	27	51	27	---	---	---	---
RRAGA	10670	broad.mit.edu	37	9	19049819	19049819	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:19049819G>A	ENST00000380527.1	+	1	448	c.162G>A	c.(160-162)ggG>ggA	p.G54G		NM_006570.4	NP_006561.1			Ras-related GTP binding A									p.G54G(1)		endometrium(1)|large_intestine(1)|lung(1)	3						GATTCCTAGGGAACCTGGTGC	0.547																																						uc003znj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)GGG>GGA		Ras-related GTP binding A							67.0	64.0	65.0					9																	19049819		2203	4300	6503	SO:0001819	synonymous_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19049819G>A	BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.162G>A	9.37:g.19049819G>A							p.G54G	NM_006570	NP_006561	Q7L523	RRAGA_HUMAN			1	448	+			54						Silent	SNP	ENST00000380527.1	37	c.162G>A	CCDS6488.1																																																																																				PASS	0.547	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	NM_006570		17	10	17	10	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:21971003C>A	ENST00000304494.5	-	2	625	c.355G>T	c.(355-357)Gag>Tag	p.E119*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E119*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E119*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E119*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000530628.2_Nonstop_Mutation_p.*133L|CDKN2A_ENST00000361570.3_Nonstop_Mutation_p.*174L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E68*|CDKN2A_ENST00000579755.1_Nonstop_Mutation_p.*133L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			E -> Q (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)	p.0?(1112)|p.?(13)|p.E119Q(2)|p.E119*(2)|p.A118fs*10(1)|p.A118fs*27(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(355-357)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							24.0	26.0	25.0					9																	21971003		2202	4298	6500	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971003C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.355G>T	9.37:g.21971003C>A	ENSP00000307101:p.Glu119*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Nonstop_Mutation_p.*174L	p.E119*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	567	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	119		E -> Q (in a biliary tract tumor).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.355G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.205559|6.205559	0.97376|0.97376	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|.	.|.	.|.	5.93|5.93	2.91|2.91	0.33838|0.33838	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.20519|.	T|.	0.43|.	-4.2732|-4.2732	8.4897|8.4897	0.33093|0.33093	0.0:0.4925:0.4233:0.0842|0.0:0.4925:0.4233:0.0842	.|.	.|.	.|.	.|.	X|L	119|174;133	.|.	ENSP00000307101:E119X|.	E|X	-|-	1|2	0|2	CDKN2A|CDKN2A	21961003|21961003	0.002000|0.002000	0.14202|0.14202	0.998000|0.998000	0.56505|0.56505	0.865000|0.865000	0.49528|0.49528	0.628000|0.628000	0.24522|0.24522	0.816000|0.816000	0.34421|0.34421	0.655000|0.655000	0.94253|0.94253	GAG|TGA		PASS	0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	6	10	6	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377029	77377029	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:77377029G>T	ENST00000360774.1	-	26	4795	c.4558C>A	c.(4558-4560)Cag>Aag	p.Q1520K	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1515K|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1515K|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1520K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1520K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1520					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q1520K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTGTTTGGCTGAAGCCATGGT	0.488																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4558-4560)CAG>AAG		transient receptor potential cation channel,							122.0	112.0	115.0					9																	77377029		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377029G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4558C>A	9.37:g.77377029G>T	ENSP00000354006:p.Gln1520Lys					TRPM6_uc004ajk.1_Missense_Mutation_p.Q1515K|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.Q476K	p.Q1520K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4796	-			1520			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4558C>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	9.100	1.004019	0.19199	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.52057	0.78;0.78;0.78;0.78;0.68	5.33	5.33	0.75918	.	1.111390	0.06742	N	0.778598	T	0.45736	0.1357	L	0.48362	1.52	0.18873	N	0.999984	B;B;B	0.21225	0.011;0.053;0.019	B;B;B	0.17722	0.005;0.019;0.011	T	0.26677	-1.0096	10	0.32370	T	0.25	.	12.8494	0.57848	0.0:0.0:0.8367:0.1633	.	1520;1515;1515	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	K	1520;1520;1515;1515;1520	ENSP00000354006:Q1520K;ENSP00000407341:Q1520K;ENSP00000396672:Q1515K;ENSP00000354962:Q1515K;ENSP00000366060:Q1520K	ENSP00000354006:Q1520K	Q	-	1	0	TRPM6	76566849	0.929000	0.31497	0.265000	0.24526	0.446000	0.32137	3.760000	0.55235	2.490000	0.84030	0.655000	0.94253	CAG		PASS	0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		5	62	5	62	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77431640	77431640	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:77431640C>G	ENST00000360774.1	-	11	1490	c.1253G>C	c.(1252-1254)tGg>tCg	p.W418S	TRPM6_ENST00000376872.3_Missense_Mutation_p.W418S|TRPM6_ENST00000449912.2_Missense_Mutation_p.W413S|TRPM6_ENST00000361255.3_Missense_Mutation_p.W413S|TRPM6_ENST00000376864.4_Missense_Mutation_p.W418S|TRPM6_ENST00000376871.3_Missense_Mutation_p.W418S|TRPM6_ENST00000451710.3_Missense_Mutation_p.W418S	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	418					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.W418S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCCTGTCCCAAGCCATTGC	0.353																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(1252-1254)TGG>TCG		transient receptor potential cation channel,							116.0	114.0	115.0					9																	77431640		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77431640C>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1253G>C	9.37:g.77431640C>G	ENSP00000354006:p.Trp418Ser					TRPM6_uc004ajk.1_Missense_Mutation_p.W413S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.W418S|TRPM6_uc010mpd.1_Missense_Mutation_p.W418S|TRPM6_uc010mpe.1_Intron	p.W418S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			11	1491	-			418			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1253G>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599176	0.87055	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.68	5.68	0.88126	.	0.053766	0.85682	D	0.000000	D	0.91696	0.7375	M	0.93150	3.385	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;0.999;0.999	D	0.93191	0.6583	10	0.87932	D	0	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	418;418;418;413	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	S	418;418;418;418;413;413;418;81;81	ENSP00000354006:W418S;ENSP00000407341:W418S;ENSP00000366068:W418S;ENSP00000366067:W418S;ENSP00000396672:W413S;ENSP00000354962:W413S;ENSP00000366060:W418S	ENSP00000309693:W81S	W	-	2	0	TRPM6	76621460	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.794000	0.85869	2.696000	0.92011	0.555000	0.69702	TGG		PASS	0.353	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		21	49	21	49	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79259819	79259819	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:79259819G>C	ENST00000376718.3	-	12	8687	c.8564C>G	c.(8563-8565)aCa>aGa	p.T2855R	PRUNE2_ENST00000223609.6_Missense_Mutation_p.T120R|PRUNE2_ENST00000428286.1_Missense_Mutation_p.T2497R|PRUNE2_ENST00000443509.2_Missense_Mutation_p.T104R|PRUNE2_ENST00000466266.2_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2855					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.T2855R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTGTTGGCTGTGGGATCTTC	0.493																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(8563-8565)ACA>AGA		prune homolog 2							75.0	65.0	68.0					9																	79259819		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79259819G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8564C>G	9.37:g.79259819G>C	ENSP00000365908:p.Thr2855Arg					PRUNE2_uc011lsk.1_Missense_Mutation_p.T104R|PRUNE2_uc011lsl.1_Missense_Mutation_p.T119R|PRUNE2_uc011lsm.1_Missense_Mutation_p.T120R|PRUNE2_uc004akj.3_Missense_Mutation_p.T309R|PRUNE2_uc010mpl.1_Missense_Mutation_p.T309R	p.T2855R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			12	8688	-			2855					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.8564C>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.614|7.614	0.675326|0.675326	0.14841|0.14841	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033	.|T;T;T;T;T;T	.|0.54479	.|0.96;0.94;0.93;0.98;0.57;0.97	6.06|6.06	-0.24|-0.24	0.13047|0.13047	.|.	.|0.935231	.|0.09128	.|N	.|0.844812	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	.|B;B;B;B;P	.|0.38745	.|0.003;0.037;0.049;0.391;0.645	.|B;B;B;B;B	.|0.40134	.|0.009;0.091;0.038;0.32;0.142	T|T	0.14839|0.14839	-1.0458|-1.0458	5|10	.|0.15499	.|T	.|0.54	0.5383|0.5383	6.7186|6.7186	0.23318|0.23318	0.3677:0.0:0.5247:0.1076|0.3677:0.0:0.5247:0.1076	.|.	.|120;119;104;2856;2855	.|B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3	.|.;.;.;.;PRUN2_HUMAN	Q|R	2176|120;2855;2497;73;104;25;120;2855	.|ENSP00000365907:T120R;ENSP00000365908:T2855R;ENSP00000397425:T2497R;ENSP00000393843:T104R;ENSP00000393657:T25R;ENSP00000223609:T120R	.|ENSP00000223609:T120R	H|T	-|-	3|2	2|0	PRUNE2|PRUNE2	78449639|78449639	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.942000|0.942000	0.58702|0.58702	0.158000|0.158000	0.16422|0.16422	-0.079000|-0.079000	0.12707|0.12707	0.650000|0.650000	0.86243|0.86243	CAC|ACA		PASS	0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		15	25	15	25	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84610038	84610038	+	Silent	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:84610038T>C	ENST00000344803.2	+	4	4700	c.4653T>C	c.(4651-4653)ttT>ttC	p.F1551F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1551					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.F1551F(2)									GCCCTGTGTTTAGTGATGTGC	0.502																																						uc004amn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(4651-4653)TTT>TTC		hypothetical protein LOC389763							18.0	18.0	18.0					9																	84610038		2040	4208	6248	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84610038T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4653T>C	9.37:g.84610038T>C							p.F1551F	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4700	+			1551						Silent	SNP	ENST00000344803.2	37	c.4653T>C	CCDS47986.1																																																																																				PASS	0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		5	12	5	12	---	---	---	---
C9orf3	84909	broad.mit.edu	37	9	97844894	97844894	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:97844894G>T	ENST00000375315.2	+	15	2357	c.2357G>T	c.(2356-2358)aGt>aTt	p.S786I	C9orf3_ENST00000433691.2_Missense_Mutation_p.S127I|C9orf3_ENST00000425634.2_Missense_Mutation_p.S148I|MIR27B_ENST00000385129.1_RNA|MIR23B_ENST00000384832.1_RNA|C9orf3_ENST00000297979.5_Missense_Mutation_p.S687I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	786					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S687I(1)|p.S786I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CTGATGGTGAGTGAGGACGCC	0.602																																						uc004ava.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2356-2358)AGT>ATT		aminopeptidase O							124.0	97.0	106.0					9																	97844894		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97844894G>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2357G>T	9.37:g.97844894G>T	ENSP00000364464:p.Ser786Ile					C9orf3_uc004auy.2_Missense_Mutation_p.S687I|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.S148I|C9orf3_uc011luk.1_Missense_Mutation_p.S127I|C9orf3_uc004avd.2_Missense_Mutation_p.S148I|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank	p.S786I	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	15	2492	+			786					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2357G>T	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.25|16.25	3.069535|3.069535	0.55539|0.55539	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000445181|ENST00000297979;ENST00000375315;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314	.|T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99	5.33|5.33	3.49|3.49	0.39957|0.39957	.|Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	.|0.436137	.|0.29480	.|N	.|0.012034	T|T	0.48537|0.48537	0.1505|0.1505	L|L	0.47716|0.47716	1.5|1.5	0.29001|0.29001	N|N	0.887446|0.887446	.|D;D;D;D	.|0.71674	.|0.998;0.987;0.981;0.998	.|D;P;P;D	.|0.67548	.|0.937;0.908;0.863;0.952	T|T	0.37596|0.37596	-0.9699|-0.9699	5|10	.|0.22109	.|T	.|0.4	0.2039|0.2039	6.9869|6.9869	0.24733|0.24733	0.3869:0.0:0.6131:0.0|0.3869:0.0:0.6131:0.0	.|.	.|127;148;786;687	.|B4DU39;B4DQU3;Q8N6M6;Q8N6M6-2	.|.;.;AMPO_HUMAN;.	D|I	150|687;786;568;148;127;150	.|ENSP00000297979:S687I;ENSP00000364464:S786I;ENSP00000401854:S568I;ENSP00000411815:S148I;ENSP00000399365:S127I	.|ENSP00000297979:S687I	E|S	+|+	3|2	2|0	C9orf3|C9orf3	96884715|96884715	1.000000|1.000000	0.71417|0.71417	0.214000|0.214000	0.23707|0.23707	0.994000|0.994000	0.84299|0.84299	4.225000|4.225000	0.58600|0.58600	0.746000|0.746000	0.32786|0.32786	0.561000|0.561000	0.74099|0.74099	GAG|AGT		PASS	0.602	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		14	19	14	19	---	---	---	---
HEMGN	55363	broad.mit.edu	37	9	100692888	100692888	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:100692888T>A	ENST00000259456.3	-	4	932	c.789A>T	c.(787-789)aaA>aaT	p.K263N		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	263					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.K263N(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GCACATCTGGTTTTGGATATG	0.443																																						uc004axy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(787-789)AAA>AAT		hemogen							205.0	191.0	195.0					9																	100692888		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692888T>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.789A>T	9.37:g.100692888T>A	ENSP00000259456:p.Lys263Asn					HEMGN_uc004axz.2_Missense_Mutation_p.K263N	p.K263N	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	897	-		Acute lymphoblastic leukemia(62;0.0559)	263					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.789A>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424533	0.43020	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.61	3.13	0.36017	.	0.764934	0.12699	N	0.446508	T	0.41119	0.1145	L	0.45581	1.43	0.09310	N	1	D	0.55172	0.97	P	0.55391	0.775	T	0.15150	-1.0447	9	0.32370	T	0.25	-6.1023	6.1088	0.20090	0.0:0.0846:0.1622:0.7532	.	263	Q9BXL5	HEMGN_HUMAN	N	263	.	ENSP00000259456:K263N	K	-	3	2	HEMGN	99732709	0.001000	0.12720	0.041000	0.18516	0.269000	0.26545	0.093000	0.15086	0.437000	0.26423	0.533000	0.62120	AAA		PASS	0.443	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		53	108	53	108	---	---	---	---
HEMGN	55363	broad.mit.edu	37	9	100693092	100693092	+	Missense_Mutation	SNP	C	C	A	rs375684699		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:100693092C>A	ENST00000259456.3	-	4	728	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.K195N(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTTCAGGTTCCTTCATGTCTT	0.388																																						uc004axy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(583-585)AAG>AAT		hemogen							283.0	281.0	282.0					9																	100693092		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693092C>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.585G>T	9.37:g.100693092C>A	ENSP00000259456:p.Lys195Asn					HEMGN_uc004axz.2_Missense_Mutation_p.K195N	p.K195N	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	693	-		Acute lymphoblastic leukemia(62;0.0559)	195					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.585G>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192465	0.21954	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.52	-9.04	0.00734	.	0.561993	0.18423	N	0.141685	T	0.12263	0.0298	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.07654	-1.0761	9	0.33141	T	0.24	5.4546	7.9047	0.29755	0.2548:0.3435:0.4016:0.0	.	195	Q9BXL5	HEMGN_HUMAN	N	195	.	ENSP00000259456:K195N	K	-	3	2	HEMGN	99732913	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.189000	0.03061	-1.609000	0.01585	-0.276000	0.10085	AAG		PASS	0.388	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		8	224	8	224	---	---	---	---
ALG2	85365	broad.mit.edu	37	9	101980729	101980729	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:101980729G>A	ENST00000476832.1	-	2	799	c.738C>T	c.(736-738)gcC>gcT	p.A246A	ALG2_ENST00000319033.6_Silent_p.A153A	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.A246A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GCTGTACTAGGGCTTCCAGTG	0.488																																						uc004azf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(736-738)GCC>GCT		alpha-1,3-mannosyltransferase ALG2							146.0	147.0	147.0					9																	101980729		2203	4300	6503	SO:0001819	synonymous_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980729G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.738C>T	9.37:g.101980729G>A						ALG2_uc004azg.2_Silent_p.A153A	p.A246A	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	808	-		Acute lymphoblastic leukemia(62;0.0559)	246					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	c.738C>T	CCDS6739.1																																																																																				PASS	0.488	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		21	114	21	114	---	---	---	---
OR13C8	138802	broad.mit.edu	37	9	107331952	107331952	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:107331952C>G	ENST00000335040.1	+	1	504	c.504C>G	c.(502-504)ttC>ttG	p.F168L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGTTACCATTCTGTGCTAATA	0.448																																						uc011lvo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(502-504)TTC>TTG		olfactory receptor, family 13, subfamily C,							140.0	133.0	135.0					9																	107331952		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331952C>G		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.504C>G	9.37:g.107331952C>G	ENSP00000334068:p.Phe168Leu						p.F168L	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	504	+			168			Extracellular (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.504C>G	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726674	0.48833	.	.	ENSG00000186943	ENST00000335040	T	0.00039	8.85	5.18	0.246	0.15516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.00300	0.0009	M	0.78223	2.4	0.30382	N	0.781847	D	0.63880	0.993	D	0.63381	0.914	T	0.47328	-0.9126	10	0.16896	T	0.51	.	9.0763	0.36525	0.0:0.6191:0.0:0.3809	.	168	Q8NGS7	O13C8_HUMAN	L	168	ENSP00000334068:F168L	ENSP00000334068:F168L	F	+	3	2	OR13C8	106371773	0.430000	0.25538	0.954000	0.39281	0.727000	0.41649	0.131000	0.15870	-0.039000	0.13602	-0.742000	0.03525	TTC		PASS	0.448	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			17	49	17	49	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107550224	107550224	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:107550224C>T	ENST00000374736.3	-	46	6575	c.6181G>A	c.(6181-6183)Ggc>Agc	p.G2061S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2061	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G2061S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGAGGCCCGCCGATCAAAGCC	0.478																																						uc004bcl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(6181-6183)GGC>AGC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						145.0	129.0	135.0					9																	107550224		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107550224C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6181G>A	9.37:g.107550224C>T	ENSP00000363868:p.Gly2061Ser					NIPSNAP3B_uc004bcj.1_RNA	p.G2061S	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	46	6494	-			2061			ABC transporter 2.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6181G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	36	5.834426	0.97003	.	.	ENSG00000165029	ENST00000374736	D	0.93488	-3.23	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96892	0.8985	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96641	0.9474	10	0.87932	D	0	.	20.563	0.99327	0.0:1.0:0.0:0.0	.	2061	O95477	ABCA1_HUMAN	S	2061	ENSP00000363868:G2061S	ENSP00000363868:G2061S	G	-	1	0	ABCA1	106590045	1.000000	0.71417	0.576000	0.28549	0.975000	0.68041	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	GGC		PASS	0.478	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		19	46	19	46	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113241915	113241915	+	Splice_Site	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:113241915C>T	ENST00000401783.2	-	13	2823	c.2487G>A	c.(2485-2487)atG>atA	p.M829I	SVEP1_ENST00000374461.1_Splice_Site_p.M806I|SVEP1_ENST00000302728.8_Splice_Site_p.M829I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Splice_Site_p.M806I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	829					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.M829I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTGATGTACCATTTTTCCCA	0.388																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(2485-2487)ATG>ATA		polydom							239.0	233.0	235.0					9																	113241915		1855	4087	5942	SO:0001630	splice_region_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113241915C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2487+1G>A	9.37:g.113241915C>T						SVEP1_uc010mua.1_Missense_Mutation_p.M829I|SVEP1_uc004beu.2_Missense_Mutation_p.M829I	p.M829I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			13	2824	-			829					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.2487G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913025	0.52439	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.77489	-0.93;-0.93;-1.1;1.24	5.62	5.62	0.85841	.	0.037988	0.85682	D	0.000000	D	0.86280	0.5895	M	0.68317	2.08	0.51482	D	0.999921	P;P;P	0.50528	0.936;0.817;0.794	P;B;B	0.61201	0.885;0.275;0.31	D	0.84892	0.0837	9	.	.	.	.	19.251	0.93925	0.0:1.0:0.0:0.0	.	829;829;829	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	I	829;806;829;806	ENSP00000384917:M829I;ENSP00000363593:M806I;ENSP00000304118:M829I;ENSP00000363585:M806I	.	M	-	3	0	SVEP1	112281736	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	5.232000	0.65332	2.646000	0.89796	0.557000	0.71058	ATG		PASS	0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	56	154	56	154	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115806333	115806333	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:115806333C>A	ENST00000374227.3	-	4	592	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	ZFP37_ENST00000555206.1_Missense_Mutation_p.D190Y|ZFP37_ENST00000553380.1_Missense_Mutation_p.D204Y	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D189Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAGGTAAATCTAAATTCTGT	0.318																																						uc004bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(565-567)GAT>TAT		zinc finger protein 37 homolog							109.0	111.0	110.0					9																	115806333		2203	4297	6500	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806333C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.565G>T	9.37:g.115806333C>A	ENSP00000363344:p.Asp189Tyr					ZFP37_uc011lwz.1_Missense_Mutation_p.D204Y|ZFP37_uc011lxa.1_Missense_Mutation_p.D190Y	p.D189Y	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	593	-			189					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.565G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139381	0.37728	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.08546	3.08;3.18;3.19	4.31	4.31	0.51392	.	0.000000	0.46442	D	0.000297	T	0.15782	0.0380	L	0.28694	0.88	0.39815	D	0.972751	D;D;B	0.76494	0.999;0.999;0.288	D;D;B	0.71870	0.975;0.975;0.085	T	0.01930	-1.1245	10	0.35671	T	0.21	-16.2119	12.5936	0.56456	0.0:1.0:0.0:0.0	.	190;204;189	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	Y	189;190;204	ENSP00000363344:D189Y;ENSP00000451310:D190Y;ENSP00000452552:D204Y	ENSP00000363344:D189Y	D	-	1	0	ZFP37	114846154	0.000000	0.05858	1.000000	0.80357	0.526000	0.34562	0.069000	0.14552	2.696000	0.92011	0.655000	0.94253	GAT		PASS	0.318	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		34	51	34	51	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115956357	115956357	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:115956357G>T	ENST00000238256.3	-	10	1074	c.957C>A	c.(955-957)ctC>ctA	p.L319L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	319					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.L344L(1)|p.L319L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GATCAGCAGAGAGGTTGTCAG	0.463																																						uc004bgs.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(955-957)CTC>CTA		FK506 binding protein 15, 133kDa							111.0	115.0	113.0					9																	115956357		2012	4185	6197	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115956357G>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.957C>A	9.37:g.115956357G>T						FKBP15_uc010muu.1_Silent_p.L383L|FKBP15_uc011lxd.1_Silent_p.L251L|FKBP15_uc010mut.1_Silent_p.L187L|FKBP15_uc004bgt.2_Silent_p.L319L	p.L319L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			10	1075	-			319					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.957C>A	CCDS48007.1																																																																																				PASS	0.463	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		6	81	6	81	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116984503	116984503	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:116984503G>T	ENST00000356083.3	+	14	2813	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	808	Collagen-like 4.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G808*(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTATCTGCAGGGAGAACTGGG	0.607																																						uc011lxl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2422-2424)GGA>TGA		collagen, type XXVII, alpha 1 precursor							94.0	101.0	99.0					9																	116984503		2203	4300	6503	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116984503G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2422-1G>T	9.37:g.116984503G>T						COL27A1_uc004bii.2_RNA	p.G808*	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			14	2422	+			808			Pro-rich.|Triple-helical region.|Collagen-like 4.		Q66K43|Q96JF7	Nonsense_Mutation	SNP	ENST00000356083.3	37	c.2422G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	37	6.566987	0.97671	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	5.75	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7737	0.34749	0.1698:0.0:0.8302:0.0	.	.	.	.	X	808	.	.	G	+	1	0	COL27A1	116024324	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.972000	0.70448	0.787000	0.33731	0.655000	0.94253	GGA		PASS	0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Nonsense_Mutation	5	52	5	52	---	---	---	---
GSN	2934	broad.mit.edu	37	9	124083615	124083615	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:124083615G>T	ENST00000373818.4	+	10	1483	c.1414G>T	c.(1414-1416)Gac>Tac	p.D472Y	GSN_ENST00000373823.3_Missense_Mutation_p.D421Y|GSN_ENST00000449733.1_Missense_Mutation_p.D421Y|GSN_ENST00000545652.1_Missense_Mutation_p.D429Y|GSN_ENST00000412819.1_Missense_Mutation_p.D421Y|GSN_ENST00000394353.2_Missense_Mutation_p.D432Y|GSN_ENST00000373808.2_Missense_Mutation_p.D421Y|GSN_ENST00000436847.1_Missense_Mutation_p.D432Y|GSN_ENST00000341272.2_Missense_Mutation_p.D421Y|GSN_ENST00000373807.1_Missense_Mutation_p.D203Y	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	472	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)	p.D472Y(1)|p.D421Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CTATGGAGGCGACAGCTACAT	0.547																																						uc004blf.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)	3						c.(1414-1416)GAC>TAC		gelsolin isoform a precursor							79.0	70.0	73.0					9																	124083615		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124083615G>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1414G>T	9.37:g.124083615G>T	ENSP00000362924:p.Asp472Tyr					GSN_uc004bld.1_Missense_Mutation_p.D421Y|GSN_uc010mvq.1_Missense_Mutation_p.D432Y|GSN_uc010mvr.1_Missense_Mutation_p.D432Y|GSN_uc010mvu.1_Missense_Mutation_p.D421Y|GSN_uc010mvt.1_Missense_Mutation_p.D421Y|GSN_uc010mvs.1_Missense_Mutation_p.D421Y|GSN_uc004ble.1_Missense_Mutation_p.D421Y|GSN_uc010mvv.1_Missense_Mutation_p.D421Y|GSN_uc011lyh.1_Missense_Mutation_p.D438Y|GSN_uc011lyi.1_Missense_Mutation_p.D421Y|GSN_uc011lyj.1_Missense_Mutation_p.D445Y|GSN_uc004blg.1_Missense_Mutation_p.D203Y	p.D472Y	NM_000177	NP_000168	P06396	GELS_HUMAN			10	1475	+			472			Actin-binding, Ca-sensitive (Potential).|Gelsolin-like 4.		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.1414G>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019031	0.75275	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.04	5.04	0.67666	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	H	0.97783	4.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.998	D;D;D;D;D	0.87578	0.997;0.926;0.993;0.998;0.961	T	0.81846	-0.0745	10	0.87932	D	0	-26.4495	17.7401	0.88404	0.0:0.0:1.0:0.0	.	445;429;432;203;472	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	Y	421;432;432;421;421;421;421;405;395;429;472;203	ENSP00000362929:D421Y;ENSP00000411293:D432Y;ENSP00000377882:D432Y;ENSP00000409358:D421Y;ENSP00000416586:D421Y;ENSP00000340888:D421Y;ENSP00000362914:D421Y;ENSP00000445823:D429Y;ENSP00000362924:D472Y;ENSP00000362913:D203Y	ENSP00000340888:D421Y	D	+	1	0	GSN	123123436	1.000000	0.71417	0.947000	0.38551	0.531000	0.34715	9.358000	0.97109	2.486000	0.83907	0.555000	0.69702	GAC		PASS	0.547	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		12	19	12	19	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126144461	126144461	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:126144461G>A	ENST00000373624.2	-	22	2481	c.2280C>T	c.(2278-2280)ggC>ggT	p.G760G	DENND1A_ENST00000542603.1_Silent_p.G545G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G771G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	760	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G760G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTTCAGTGGGGCCTTGGGGGA	0.706																																						uc004bnz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2278-2280)GGC>GGT		DENN/MADD domain containing 1A isoform 1							14.0	18.0	17.0					9																	126144461		2195	4293	6488	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126144461G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2280C>T	9.37:g.126144461G>A						DENND1A_uc011lzl.1_Silent_p.G578G|DENND1A_uc004bny.1_Silent_p.G542G|DENND1A_uc011lzm.1_Silent_p.G771G|DENND1A_uc010mwh.1_Silent_p.G181G	p.G760G	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			22	2513	-			760			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.2280C>T	CCDS35133.1																																																																																				PASS	0.706	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		4	4	4	4	---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130287409	130287409	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:130287409T>C	ENST00000373312.3	-	4	562	c.349A>G	c.(349-351)Atc>Gtc	p.I117V	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.I104V	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	117	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I117V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCACTGTTGATGACGGCTCGT	0.582																																						uc004brh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)ATC>GTC		hypothetical protein LOC64855 isoform 1							113.0	101.0	105.0					9																	130287409		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130287409T>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.349A>G	9.37:g.130287409T>C	ENSP00000362409:p.Ile117Val					FAM129B_uc004bri.2_Missense_Mutation_p.I104V|FAM129B_uc004brj.3_Missense_Mutation_p.I117V	p.I117V	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			4	551	-			117			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.349A>G	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239054	0.79800	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.24350	1.86;1.86	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.52126	1.63	0.48696	D	0.999697	P;P	0.45768	0.866;0.866	P;P	0.48901	0.594;0.594	T	0.04320	-1.0960	10	0.51188	T	0.08	-30.1723	13.876	0.63653	0.0:0.0:0.0:1.0	.	104;117	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	V	104;117	ENSP00000362411:I104V;ENSP00000362409:I117V	ENSP00000362409:I117V	I	-	1	0	FAM129B	129327230	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.860000	0.48372	2.163000	0.67991	0.459000	0.35465	ATC		PASS	0.582	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		8	22	8	22	---	---	---	---
GLE1	2733	broad.mit.edu	37	9	131287581	131287581	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:131287581G>C	ENST00000309971.4	+	7	1114	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	GLE1_ENST00000539582.1_Missense_Mutation_p.K82N|GLE1_ENST00000372770.4_Missense_Mutation_p.K336N|GLE1_ENST00000494417.1_3'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	336					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.K336N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GCGAAGACAAGAGGAGGCAGG	0.612																																						uc004bvj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1006-1008)AAG>AAC		GLE1 RNA export mediator homolog isoform 1							60.0	55.0	57.0					9																	131287581		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131287581G>C	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1008G>C	9.37:g.131287581G>C	ENSP00000308622:p.Lys336Asn					GLE1_uc004bvi.2_Missense_Mutation_p.K336N|GLE1_uc010myd.2_Missense_Mutation_p.K82N	p.K336N	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN			7	1122	+			336			Potential.		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.1008G>C	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629516	0.67015	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.80824	-0.5;-0.1;-1.42	5.59	1.71	0.24356	.	0.086833	0.85682	D	0.000000	T	0.81917	0.4924	M	0.66939	2.045	0.49687	D	0.999816	P;D	0.57257	0.822;0.979	B;P	0.52957	0.411;0.714	T	0.79127	-0.1931	10	0.41790	T	0.15	-25.3814	10.0681	0.42317	0.2822:0.0:0.7178:0.0	.	336;336	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	N	336;336;82	ENSP00000308622:K336N;ENSP00000361856:K336N;ENSP00000438670:K82N	ENSP00000308622:K336N	K	+	3	2	GLE1	130327402	0.993000	0.37304	0.018000	0.16275	0.871000	0.50021	0.190000	0.17057	0.342000	0.23796	-0.362000	0.07510	AAG		PASS	0.612	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		18	30	18	30	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135202449	135202449	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:135202449C>A	ENST00000224140.5	-	10	4718	c.4536G>T	c.(4534-4536)atG>atT	p.M1512I	SETX_ENST00000393220.1_Missense_Mutation_p.M1512I|SETX_ENST00000372169.2_Missense_Mutation_p.M1512I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1512					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.M1512I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTCATTCTCCATTTGTGAAC	0.368																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4534-4536)ATG>ATT		senataxin							95.0	93.0	94.0					9																	135202449		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202449C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4536G>T	9.37:g.135202449C>A	ENSP00000224140:p.Met1512Ile					SETX_uc004cbj.2_Missense_Mutation_p.M1131I|SETX_uc010mzt.2_Missense_Mutation_p.M1131I	p.M1512I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4719	-		Myeloproliferative disorder(178;0.204)	1512					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.4536G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	1.110	-0.658419	0.03454	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86497	-2.04;-2.13;-1.75	5.31	0.641	0.17759	.	0.627735	0.15665	N	0.250661	T	0.73521	0.3597	L	0.33485	1.01	0.25318	N	0.98915	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.09377	0.004;0.003;0.004	T	0.53606	-0.8415	10	0.16420	T	0.52	.	1.9953	0.03455	0.2379:0.4333:0.1172:0.2116	.	1512;1512;1512	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	I	1512	ENSP00000224140:M1512I;ENSP00000361242:M1512I;ENSP00000376913:M1512I	ENSP00000224140:M1512I	M	-	3	0	SETX	134192270	0.976000	0.34144	0.769000	0.31535	0.460000	0.32559	0.208000	0.17415	0.208000	0.20626	-0.140000	0.14226	ATG		PASS	0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		23	61	23	61	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135273606	135273606	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr9:135273606G>T	ENST00000334270.2	-	4	1738	c.1699C>A	c.(1699-1701)Ctg>Atg	p.L567M		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	567					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L567M(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCCGTGTACAGCAGCTTGTCT	0.378																																						uc004cbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1699-1701)CTG>ATG		transcription termination factor, RNA polymerase							156.0	135.0	142.0					9																	135273606		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135273606G>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1699C>A	9.37:g.135273606G>T	ENSP00000333920:p.Leu567Met					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.L52M	p.L567M	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	4	1751	-		Myeloproliferative disorder(178;0.204)	567					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1699C>A	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918457	0.33908	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.14516	2.5	5.26	4.36	0.52297	.	0.000000	0.52532	D	0.000065	T	0.28896	0.0717	L	0.56769	1.78	0.27435	N	0.953883	D	0.76494	0.999	D	0.85130	0.997	T	0.02728	-1.1118	10	0.41790	T	0.15	.	8.8089	0.34954	0.0999:0.0:0.9001:0.0	.	567	Q15361	TTF1_HUMAN	M	567	ENSP00000333920:L567M	ENSP00000245588:L567M	L	-	1	2	TTF1	134263427	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.932000	0.48940	2.462000	0.83206	0.655000	0.94253	CTG		PASS	0.378	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		5	42	5	42	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1053023	1053023	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:1053023G>T	ENST00000360803.4	+	10	1150	c.1068G>T	c.(1066-1068)gtG>gtT	p.V356V	GTPBP4_ENST00000538293.1_Silent_p.V240V|GTPBP4_ENST00000545048.1_Silent_p.V309V|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	356					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.V356V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGAATGAGGTGCTGAATAGAC	0.502																																						uc001ift.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1066-1068)GTG>GTT		G protein-binding protein CRFG							137.0	114.0	122.0					10																	1053023		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1053023G>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1068G>T	10.37:g.1053023G>T						GTPBP4_uc010qac.1_Silent_p.V147V|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.V240V|GTPBP4_uc010qae.1_Silent_p.V309V	p.V356V	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	10	1139	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	356					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.1068G>T	CCDS31132.1																																																																																				PASS	0.502	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		17	53	17	53	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805197	21805197	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:21805197C>G	ENST00000449193.2	-	4	3807	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	SKIDA1_ENST00000444772.3_Missense_Mutation_p.E440Q	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	438						nucleus (GO:0005634)		p.E519Q(2)									AGATTCCACTCCGCCGGCGAC	0.612																																						uc009xkd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1555-1557)GAG>CAG		hypothetical protein LOC387640							33.0	38.0	36.0					10																	21805197		1981	4168	6149	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21805197C>G	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1555G>C	10.37:g.21805197C>G	ENSP00000410041:p.Glu519Gln					uc001iqp.1_RNA	p.E519Q	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	3808	-			438					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1555G>C	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706735	0.48412	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.73	5.73	0.89815	.	0.347832	0.30043	N	0.010549	T	0.36880	0.0983	L	0.27053	0.805	0.32875	D	0.50971	P	0.36048	0.534	B	0.32289	0.143	T	0.46721	-0.9171	9	0.33940	T	0.23	0.0421	18.4673	0.90760	0.0:1.0:0.0:0.0	.	519	E9PAX1	.	Q	519;440	.	ENSP00000442432:E440Q	E	-	1	0	C10orf140	21845203	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.204000	0.51082	2.712000	0.92718	0.650000	0.86243	GAG		PASS	0.612	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		14	15	14	15	---	---	---	---
THNSL1	79896	broad.mit.edu	37	10	25312955	25312955	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:25312955C>A	ENST00000524413.1	+	3	1150	c.803C>A	c.(802-804)cCt>cAt	p.P268H	THNSL1_ENST00000376356.4_Missense_Mutation_p.P268H			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	268						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.P268H(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	CTCTTTGTTCCTGCAAAGGAG	0.448																																						uc001isi.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(802-804)CCT>CAT		threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						106.0	113.0	111.0					10																	25312955		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312955C>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.803C>A	10.37:g.25312955C>A	ENSP00000434887:p.Pro268His					ENKUR_uc001ish.1_Intron	p.P268H	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			3	1132	+			268					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.803C>A	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705484	0.68615	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.68025	-0.3;-0.3	5.71	5.71	0.89125	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92392	0.5922	10	0.87932	D	0	-28.0819	19.8635	0.96793	0.0:1.0:0.0:0.0	.	268	Q8IYQ7	THNS1_HUMAN	H	268	ENSP00000434887:P268H;ENSP00000365534:P268H	ENSP00000365534:P268H	P	+	2	0	THNSL1	25352961	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.486000	0.81215	2.700000	0.92200	0.650000	0.86243	CCT		PASS	0.448	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		5	43	5	43	---	---	---	---
ZNF239	8187	broad.mit.edu	37	10	44053470	44053470	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:44053470C>A	ENST00000306006.6	-	2	710	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	ZNF239_ENST00000535642.1_Missense_Mutation_p.D20Y|ZNF239_ENST00000426961.1_Missense_Mutation_p.D20Y|ZNF239_ENST00000374446.2_Missense_Mutation_p.D20Y|ZNF239_ENST00000491188.1_5'UTR	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D20Y(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGCTCCCCATCCACTTCCCCT	0.468																																						uc001jaw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GAT>TAT		zinc finger protein 239							66.0	61.0	63.0					10																	44053470		1919	4106	6025	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053470C>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.58G>T	10.37:g.44053470C>A	ENSP00000307774:p.Asp20Tyr					ZNF239_uc001jax.3_Missense_Mutation_p.D20Y|ZNF239_uc009xmj.2_Missense_Mutation_p.D20Y|ZNF239_uc009xmk.2_Missense_Mutation_p.D20Y	p.D20Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	711	-			20					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.58G>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145117	0.06627	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	3.6	-0.341	0.12639	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48068	-0.9067	9	0.07813	T	0.8	-0.8872	5.0967	0.14737	0.3281:0.535:0.1368:0.0	.	20	Q16600	ZN239_HUMAN	Y	20	ENSP00000307774:D20Y;ENSP00000363569:D20Y;ENSP00000398202:D20Y;ENSP00000443907:D20Y	ENSP00000307774:D20Y	D	-	1	0	ZNF239	43373476	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	0.351000	0.20096	-0.067000	0.12976	-0.262000	0.10625	GAT		PASS	0.468	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			10	18	10	18	---	---	---	---
OR13A1	79290	broad.mit.edu	37	10	45799862	45799862	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:45799862C>A	ENST00000553795.1	-	4	317	c.9G>T	c.(7-9)ctG>ctT	p.L3L	OR13A1_ENST00000536058.1_Silent_p.L3L|OR13A1_ENST00000374401.2_Silent_p.L3L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L3L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTCCATCCACAGCTTCATGT	0.502																																						uc001jcc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)CTG>CTT		olfactory receptor, family 13, subfamily A,							66.0	72.0	70.0					10																	45799862		2175	4291	6466	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799862C>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.9G>T	10.37:g.45799862C>A						OR13A1_uc001jcd.1_5'UTR	p.L3L	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	318	-			3			Extracellular (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.9G>T	CCDS31188.1																																																																																				PASS	0.502	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		12	41	12	41	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55616991	55616991	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:55616991G>A	ENST00000320301.6	-	28	4144	c.3750C>T	c.(3748-3750)gtC>gtT	p.V1250V	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.V1250V|PCDH15_ENST00000414778.1_Silent_p.V1255V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Silent_p.V1257V|PCDH15_ENST00000395433.1_Silent_p.V1228V|PCDH15_ENST00000409834.1_Silent_p.V861V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Silent_p.V1257V|PCDH15_ENST00000395438.1_Silent_p.V1250V|PCDH15_ENST00000395432.2_Silent_p.V1213V|PCDH15_ENST00000395430.1_Silent_p.V1250V|PCDH15_ENST00000437009.1_Silent_p.V1179V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1250	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V1255V(4)|p.V1250V(3)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAAACAATGACTTGCATAT	0.328										HNSCC(58;0.16)																												uc001jju.1																			7	Substitution - coding silent(7)		lung(4)|upper_aerodigestive_tract(3)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3748-3750)GTC>GTT		protocadherin 15 isoform CD1-4 precursor							77.0	77.0	77.0					10																	55616991		2203	4299	6502	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55616991G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3750C>T	10.37:g.55616991G>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.V1255V|PCDH15_uc010qhr.1_Silent_p.V1250V|PCDH15_uc010qhs.1_Silent_p.V1262V|PCDH15_uc010qht.1_Silent_p.V1257V|PCDH15_uc010qhu.1_Silent_p.V1250V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.V1250V|PCDH15_uc010qhw.1_Silent_p.V1213V|PCDH15_uc010qhx.1_Silent_p.V1179V|PCDH15_uc010qhy.1_Silent_p.V1255V|PCDH15_uc010qhz.1_Silent_p.V1250V|PCDH15_uc010qia.1_Silent_p.V1228V|PCDH15_uc010qib.1_Silent_p.V1228V	p.V1250V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			28	4145	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1250			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3750C>T	CCDS7248.1																																																																																				PASS	0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		14	65	14	65	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61029736	61029736	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:61029736G>T	ENST00000373868.2	-	7	813	c.726C>A	c.(724-726)tcC>tcA	p.S242S	FAM13C_ENST00000277705.6_Silent_p.S263S|FAM13C_ENST00000422313.2_Silent_p.S242S|FAM13C_ENST00000419214.2_Silent_p.S242S|FAM13C_ENST00000442566.3_Silent_p.S263S|FAM13C_ENST00000468840.2_Silent_p.S159S|FAM13C_ENST00000373867.3_Silent_p.S159S|FAM13C_ENST00000435852.2_Silent_p.S242S	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	242								p.S242S(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCTGAAGATGGAGCATCGTG	0.522																																						uc001jkn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(724-726)TCC>TCA		hypothetical protein LOC220965 isoform 1							101.0	91.0	94.0					10																	61029736		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61029736G>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.726C>A	10.37:g.61029736G>T						FAM13C_uc001jko.2_Silent_p.S242S|FAM13C_uc010qid.1_Silent_p.S159S|FAM13C_uc010qie.1_Silent_p.S159S|FAM13C_uc010qif.1_Silent_p.S264S|FAM13C_uc001jkp.2_Silent_p.S159S	p.S242S	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			8	860	-			242					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.726C>A	CCDS7255.1																																																																																				PASS	0.522	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			4	27	4	27	---	---	---	---
HERC4	26091	broad.mit.edu	37	10	69804216	69804216	+	Missense_Mutation	SNP	C	C	G	rs148764489		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:69804216C>G	ENST00000395198.3	-	4	578	c.331G>C	c.(331-333)Gat>Cat	p.D111H	HERC4_ENST00000373700.4_Missense_Mutation_p.D111H|HERC4_ENST00000412272.2_Missense_Mutation_p.D111H|HERC4_ENST00000395187.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	111					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D111H(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCATCAGAATCGAGACCCCAA	0.458																																						uc001jng.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(331-333)GAT>CAT		hect domain and RLD 4 isoform a							173.0	131.0	145.0					10																	69804216		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69804216C>G	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.331G>C	10.37:g.69804216C>G	ENSP00000378624:p.Asp111His					HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.D111H|HERC4_uc009xpr.2_Missense_Mutation_p.D111H|HERC4_uc001jni.3_Intron|HERC4_uc001jnj.2_Missense_Mutation_p.D111H	p.D111H	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			4	642	-			111			RCC1 3.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.331G>C	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644523	0.87859	.	.	ENSG00000148634	ENST00000412272;ENST00000395198;ENST00000373700;ENST00000513996	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	5.54	4.62	0.57501	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.168198	0.53938	D	0.000046	D	0.86527	0.5954	L	0.34521	1.04	0.80722	D	1	D;D;P;D	0.60160	0.987;0.987;0.948;0.958	P;P;P;P	0.60609	0.779;0.815;0.805;0.877	D	0.85420	0.1142	9	.	.	.	.	15.7112	0.77629	0.138:0.862:0.0:0.0	.	111;111;111;111	Q5GLZ8-3;A8K9U4;Q5GLZ8-2;Q5GLZ8	.;.;.;HERC4_HUMAN	H	111	ENSP00000416504:D111H;ENSP00000378624:D111H;ENSP00000362804:D111H;ENSP00000427191:D111H	.	D	-	1	0	HERC4	69474222	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.910000	0.69931	1.300000	0.44818	0.591000	0.81541	GAT		PASS	0.458	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		8	44	8	44	---	---	---	---
TACR2	6865	broad.mit.edu	37	10	71175996	71175996	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:71175996C>A	ENST00000373306.4	-	1	627	c.84G>T	c.(82-84)atG>atT	p.M28I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	28					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.M28I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GCCAGCTGGGCATGGAGAAGG	0.597																																						uc001jpn.2																			1	Substitution - Missense(1)		lung(1)	prostate(1)	1						c.(82-84)ATG>ATT		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						74.0	69.0	71.0					10																	71175996		2203	4300	6503	SO:0001583	missense	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71175996C>A		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.84G>T	10.37:g.71175996C>A	ENSP00000362403:p.Met28Ile						p.M28I	NM_001057	NP_001048	P21452	NK2R_HUMAN			1	679	-			28			Extracellular (Potential).		A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	c.84G>T	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314379	0.40996	.	.	ENSG00000075073	ENST00000373306	T	0.36157	1.27	5.31	5.31	0.75309	.	0.116938	0.64402	D	0.000017	T	0.36552	0.0971	M	0.63428	1.95	0.39056	D	0.960439	P	0.38863	0.65	B	0.34590	0.186	T	0.27640	-1.0068	10	0.16420	T	0.52	.	19.3477	0.94372	0.0:1.0:0.0:0.0	.	28	P21452	NK2R_HUMAN	I	28	ENSP00000362403:M28I	ENSP00000362403:M28I	M	-	3	0	TACR2	70846002	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.320000	0.43797	2.659000	0.90383	0.655000	0.94253	ATG		PASS	0.597	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			14	34	14	34	---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72604314	72604314	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:72604314G>C	ENST00000373202.3	+	3	312	c.112G>C	c.(112-114)Gag>Cag	p.E38Q		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	38					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.E38Q(1)		large_intestine(4)	4						CACCAAGTATGAGCCCTGGCA	0.448																																					Colon(151;1054 2458 6676 40971)	uc001jrm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)GAG>CAG		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						146.0	132.0	137.0					10																	72604314		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72604314G>C	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.112G>C	10.37:g.72604314G>C	ENSP00000362298:p.Glu38Gln						p.E38Q	NM_003901	NP_003892	O95470	SGPL1_HUMAN			3	334	+			38			Lumenal (Potential).		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.112G>C	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548273	0.86127	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	T;T	0.48836	0.8;1.01	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.52266	1.64	0.58432	D	0.999999	P	0.42010	0.768	B	0.41088	0.347	T	0.34079	-0.9843	10	0.33141	T	0.24	-31.573	17.1394	0.86748	0.0:0.0:1.0:0.0	.	38	O95470	SGPL1_HUMAN	Q	38;21	ENSP00000362298:E38Q;ENSP00000299297:E21Q	ENSP00000299297:E21Q	E	+	1	0	SGPL1	72274320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.449000	0.66619	2.778000	0.95560	0.650000	0.86243	GAG		PASS	0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		11	22	11	22	---	---	---	---
SFTPA2	729238	broad.mit.edu	37	10	81317816	81317816	+	Missense_Mutation	SNP	G	G	T	rs573970906		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:81317816G>T	ENST00000372325.2	-	5	446	c.362C>A	c.(361-363)aCa>aAa	p.T121K	SFTPA2_ENST00000372327.5_Missense_Mutation_p.T121K	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	121					respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.T121K(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCTCCCCTTGTCTGCAGGAT	0.547									Pulmonary Fibrosis, Idiopathic																													uc001kal.3																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)ACA>AAA		RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;							205.0	208.0	207.0					10																	81317816		2203	4296	6499	SO:0001583	missense	729238	Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81317816G>T		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.362C>A	10.37:g.81317816G>T	ENSP00000361400:p.Thr121Lys					SFTPA2_uc001kan.3_Missense_Mutation_p.T121K	p.T121K	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		5	459	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		121					A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.362C>A	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	0.390	-0.924200	0.02377	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.87412	-1.81;-1.81;-2.25	2.91	-0.391	0.12446	.	1.118880	0.06644	N	0.761593	D	0.82958	0.5150	L	0.60455	1.87	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.68569	-0.5374	10	0.62326	D	0.03	0.0741	5.4917	0.16779	0.4343:0.0:0.5657:0.0	.	121	E3VLC8	.	K	121;87;121;121	ENSP00000361400:T121K;ENSP00000361402:T121K;ENSP00000397375:T121K	ENSP00000361400:T121K	T	-	2	0	SFTPA2	80987822	0.001000	0.12720	0.005000	0.12908	0.529000	0.34654	0.372000	0.20467	-0.057000	0.13199	0.430000	0.28490	ACA		PASS	0.547	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		13	104	13	104	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85992387	85992387	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:85992387C>T	ENST00000372105.3	-	4	1189	c.1168G>A	c.(1168-1170)Gct>Act	p.A390T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	390						integral component of endoplasmic reticulum membrane (GO:0030176)		p.A390T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCAGGACAGCGGGTTTGGGA	0.622																																						uc001kcz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)GCT>ACT		retina specific protein PAL							58.0	47.0	51.0					10																	85992387		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85992387C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1168G>A	10.37:g.85992387C>T	ENSP00000361177:p.Ala390Thr						p.A390T	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1190	-			390			Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1168G>A	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190539	0.09547	.	.	ENSG00000148602	ENST00000372105	T	0.35605	1.3	5.66	-0.444	0.12245	.	1.169910	0.05807	N	0.613327	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	1	P	0.42375	0.778	B	0.25140	0.058	T	0.12319	-1.0552	10	0.12766	T	0.61	.	2.5349	0.04712	0.1216:0.447:0.2132:0.2183	.	390	Q9P2V4	LRIT1_HUMAN	T	390	ENSP00000361177:A390T	ENSP00000361177:A390T	A	-	1	0	LRIT1	85982367	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.037000	0.12164	0.024000	0.15214	0.655000	0.94253	GCT		PASS	0.622	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		7	4	7	4	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96005734	96005734	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:96005734A>G	ENST00000371380.3	+	7	2687	c.2452A>G	c.(2452-2454)Aat>Gat	p.N818D	PLCE1_ENST00000260766.3_Missense_Mutation_p.N818D|PLCE1_ENST00000371375.1_Missense_Mutation_p.N510D|PLCE1_ENST00000371385.3_Missense_Mutation_p.N510D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	818					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.N510D(1)|p.N818D(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGATTCAGACAATGACATCTT	0.413																																						uc001kjk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2452-2454)AAT>GAT		phospholipase C, epsilon 1 isoform 1							84.0	82.0	83.0					10																	96005734		1927	4139	6066	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005734A>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2452A>G	10.37:g.96005734A>G	ENSP00000360431:p.Asn818Asp					PLCE1_uc010qnx.1_Missense_Mutation_p.N818D|PLCE1_uc001kjm.2_Missense_Mutation_p.N510D	p.N818D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			8	3086	+		Colorectal(252;0.0458)	818					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2452A>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883195	0.51908	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	6.04	6.04	0.98038	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.382752	0.29653	N	0.011552	T	0.23249	0.0562	L	0.44542	1.39	0.37089	D	0.899364	P;B;P	0.40144	0.704;0.43;0.488	B;B;B	0.35899	0.165;0.213;0.155	T	0.12243	-1.0555	10	0.22706	T	0.39	.	16.6349	0.85050	1.0:0.0:0.0:0.0	.	818;510;818	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	818;818;510;510	ENSP00000260766:N818D;ENSP00000360431:N818D;ENSP00000360438:N510D;ENSP00000360426:N510D	ENSP00000260766:N818D	N	+	1	0	PLCE1	95995724	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.466000	0.73543	2.330000	0.79161	0.477000	0.44152	AAT		PASS	0.413	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		23	37	23	37	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96609752	96609752	+	Missense_Mutation	SNP	C	C	T	rs17879685	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:96609752C>T	ENST00000371321.3	+	8	1310	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	410			R -> C (in allele CYP2C19*13; dbSNP:rs17879685). {ECO:0000269|PubMed:12464799, ECO:0000269|Ref.3}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R410C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GTTTGACCCTCGTCACTTTCT	0.393													C|||	28	0.00559105	0.0197	0.0029	5008	,	,		19957	0.0		0.0	False		,,,				2504	0.0					uc010qnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1228-1230)CGT>TGT		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	C	CYS/ARG	77,4329	68.1+/-105.8	0,77,2126	145.0	138.0	140.0		1228	0.2	0.9	10	dbSNP_124	140	0,8600		0,0,4300	yes	missense	CYP2C19	NM_000769.1	180	0,77,6426	TT,TC,CC		0.0,1.7476,0.592	benign	410/491	96609752	77,12929	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96609752C>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1228C>T	10.37:g.96609752C>T	ENSP00000360372:p.Arg410Cys					CYP2C19_uc010qny.1_Missense_Mutation_p.R388C	p.R410C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	8	1228	+		Colorectal(252;0.09)	410					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1228C>T	CCDS7436.1	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	C	4.573	0.106438	0.08780	0.017476	0.0	ENSG00000165841	ENST00000371321	T	0.12672	2.66	3.4	0.239	0.15484	.	0.462575	0.18244	U	0.147147	T	0.03739	0.0106	N	0.21194	0.64	0.19575	N	0.999969	B	0.11235	0.004	B	0.04013	0.001	T	0.25293	-1.0136	10	0.72032	D	0.01	.	7.3052	0.26443	0.108:0.5184:0.3736:0.0	rs17879685;rs60806690	410	P33261	CP2CJ_HUMAN	C	410	ENSP00000360372:R410C	ENSP00000360372:R410C	R	+	1	0	CYP2C19	96599742	0.000000	0.05858	0.945000	0.38365	0.179000	0.23085	0.067000	0.14510	-0.212000	0.10109	-1.121000	0.02013	CGT		PASS	0.393	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		28	101	28	101	---	---	---	---
TCTN3	26123	broad.mit.edu	37	10	97440243	97440243	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:97440243A>T	ENST00000371217.5	-	13	1599	c.1576T>A	c.(1576-1578)Tgc>Agc	p.C526S	TCTN3_ENST00000430368.2_Missense_Mutation_p.C378S|TCTN3_ENST00000265993.9_Missense_Mutation_p.C544S			Q6NUS6	TECT3_HUMAN	tectonic family member 3	526					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.C526S(2)|p.C348S(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		ATAGACTGGCACTGGTATAGG	0.423																																						uc001klb.3																			3	Substitution - Missense(3)		lung(3)		0						c.(1576-1578)TGC>AGC		tectonic 3 isoform a precursor							210.0	206.0	207.0					10																	97440243		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97440243A>T	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1576T>A	10.37:g.97440243A>T	ENSP00000360261:p.Cys526Ser					TCTN3_uc001kla.3_Missense_Mutation_p.C370S|TCTN3_uc010qoi.1_Missense_Mutation_p.C378S	p.C526S	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	13	1820	-		Colorectal(252;0.0815)	526			Extracellular (Potential).		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.1576T>A	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	A	12.26	1.884124	0.33255	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.83914	-1.78	5.47	4.34	0.51931	.	0.224263	0.47093	D	0.000258	D	0.83248	0.5213	L	0.48174	1.505	0.09310	N	1	D;D;D	0.65815	0.995;0.981;0.994	P;P;P	0.61874	0.869;0.69;0.895	T	0.71358	-0.4617	10	0.12103	T	0.63	-18.6891	8.1418	0.31089	0.9089:0.0:0.0911:0.0	.	378;526;348	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	S	526;378;544;348	ENSP00000265993:C526S	ENSP00000265993:C526S	C	-	1	0	TCTN3	97430233	0.999000	0.42202	0.056000	0.19401	0.043000	0.13939	4.507000	0.60434	0.926000	0.37118	0.533000	0.62120	TGC		PASS	0.423	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		48	143	48	143	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101603605	101603605	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:101603605C>T	ENST00000370449.4	+	27	3904	c.3791C>T	c.(3790-3792)aCc>aTc	p.T1264I		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1264	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.T1264I(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAAATAGAGACCAACATTGTG	0.418																																						uc001kqf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3790-3792)ACC>ATC		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						271.0	281.0	278.0					10																	101603605		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101603605C>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3791C>T	10.37:g.101603605C>T	ENSP00000359478:p.Thr1264Ile						p.T1264I	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	27	3930	+		Colorectal(252;0.234)	1264			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3791C>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309007	0.81247	.	.	ENSG00000023839	ENST00000370449	D	0.83335	-1.71	5.51	5.51	0.81932	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.045955	0.85682	D	0.000000	D	0.92355	0.7574	M	0.92412	3.305	0.80722	D	1	D	0.54601	0.967	P	0.57548	0.823	D	0.93864	0.7156	10	0.87932	D	0	-20.9758	19.451	0.94867	0.0:1.0:0.0:0.0	.	1264	Q92887	MRP2_HUMAN	I	1264	ENSP00000359478:T1264I	ENSP00000359478:T1264I	T	+	2	0	ABCC2	101593595	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.023000	0.70848	2.593000	0.87608	0.655000	0.94253	ACC		PASS	0.418	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		112	199	112	199	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102676494	102676494	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:102676494G>T	ENST00000238961.4	+	3	894	c.352G>T	c.(352-354)Ggt>Tgt	p.G118C	FAM178A_ENST00000370271.3_Missense_Mutation_p.G118C|FAM178A_ENST00000370269.3_Missense_Mutation_p.G118C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	118						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.G118C(1)									TTTCATGAAAGGTGTTAAAGA	0.413																																						uc001krt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)GGT>TGT		hypothetical protein LOC55719 isoform 1							79.0	73.0	75.0					10																	102676494		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102676494G>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.352G>T	10.37:g.102676494G>T	ENSP00000238961:p.Gly118Cys					FAM178A_uc001krr.1_Missense_Mutation_p.G118C|FAM178A_uc001krs.2_Missense_Mutation_p.G118C|FAM178A_uc001kru.1_Missense_Mutation_p.G54C	p.G118C	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			3	894	+			118					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.352G>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495747	0.64186	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.56941	0.43;1.07;1.06	5.84	3.95	0.45737	.	0.406531	0.21640	N	0.071344	T	0.58323	0.2114	L	0.27053	0.805	0.31824	N	0.625601	D;D;D	0.89917	0.992;0.992;1.0	P;P;D	0.65874	0.81;0.875;0.939	T	0.66380	-0.5938	10	0.72032	D	0.01	-1.5955	13.8236	0.63338	0.0:0.2926:0.7074:0.0	.	118;118;118	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	C	118	ENSP00000359294:G118C;ENSP00000238961:G118C;ENSP00000359292:G118C	ENSP00000238961:G118C	G	+	1	0	FAM178A	102666484	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	2.907000	0.48743	0.780000	0.33566	0.655000	0.94253	GGT		PASS	0.413	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			5	52	5	52	---	---	---	---
CFAP58	159686	broad.mit.edu	37	10	106160462	106160462	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:106160462G>C	ENST00000369704.3	+	13	1974	c.1840G>C	c.(1840-1842)Ggg>Cgg	p.G614R	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		614						extracellular space (GO:0005615)		p.G614R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGATATCCTGGGGTCTCAGCT	0.493																																						uc001kyh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1840-1842)GGG>CGG		coiled-coil domain containing 147							153.0	126.0	135.0					10																	106160462		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106160462G>C																												ENST00000369704.3:c.1840G>C	10.37:g.106160462G>C	ENSP00000358718:p.Gly614Arg						p.G614R	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	13	1974	+		Colorectal(252;0.103)|Breast(234;0.122)	614					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.1840G>C	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322568	0.95708	.	.	ENSG00000120051	ENST00000369704	T	0.50548	0.74	5.62	5.62	0.85841	.	0.050892	0.85682	D	0.000000	T	0.60766	0.2294	M	0.73598	2.24	0.80722	D	1	P	0.49862	0.929	P	0.49528	0.614	T	0.61496	-0.7051	10	0.42905	T	0.14	-30.4495	19.645	0.95773	0.0:0.0:1.0:0.0	.	614	Q5T655	CC147_HUMAN	R	614	ENSP00000358718:G614R	ENSP00000358718:G614R	G	+	1	0	CCDC147	106150452	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	9.869000	0.99810	2.647000	0.89833	0.655000	0.94253	GGG		PASS	0.493	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			22	39	22	39	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118315626	118315626	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:118315626C>A	ENST00000369221.2	+	9	954	c.926C>A	c.(925-927)aCt>aAt	p.T309N		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	309					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.T309N(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AACGTCTTCACTGCAGTAAGT	0.428																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(925-927)ACT>AAT		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						193.0	169.0	177.0					10																	118315626		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118315626C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.926C>A	10.37:g.118315626C>A	ENSP00000358223:p.Thr309Asn						p.T309N	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	9	969	+			309					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.926C>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454327	0.26161	.	.	ENSG00000175535	ENST00000369221	D	0.90133	-2.62	6.16	-1.09	0.09904	Lipase, N-terminal (1);	1.075610	0.07149	N	0.848732	T	0.79730	0.4496	N	0.10782	0.045	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.62732	-0.6792	10	0.21014	T	0.42	.	10.1961	0.43056	0.2964:0.3371:0.3665:0.0	.	309	P16233	LIPP_HUMAN	N	309	ENSP00000358223:T309N	ENSP00000358223:T309N	T	+	2	0	PNLIP	118305616	0.000000	0.05858	0.095000	0.20976	0.116000	0.19942	0.029000	0.13666	-0.068000	0.12953	-0.172000	0.13284	ACT		PASS	0.428	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		20	64	20	64	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119043185	119043185	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:119043185C>A	ENST00000334464.5	-	5	3298	c.3059G>T	c.(3058-3060)gGt>gTt	p.G1020V	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1020					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G1020V(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CAGATCACGACCAATTTCTTT	0.428																																						uc001lde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3058-3060)GGT>GTT		PDZ domain containing 8							149.0	152.0	151.0					10																	119043185		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043185C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3059G>T	10.37:g.119043185C>A	ENSP00000334642:p.Gly1020Val						p.G1020V	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3258	-		Colorectal(252;0.19)	1020					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.3059G>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796800	0.70567	.	.	ENSG00000165650	ENST00000334464	D	0.92805	-3.11	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94571	0.7771	10	0.72032	D	0.01	-13.2701	19.9254	0.97100	0.0:1.0:0.0:0.0	.	1020	Q8NEN9	PDZD8_HUMAN	V	1020	ENSP00000334642:G1020V	ENSP00000334642:G1020V	G	-	2	0	PDZD8	119033175	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	7.487000	0.81328	2.710000	0.92621	0.655000	0.94253	GGT		PASS	0.428	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		25	69	25	69	---	---	---	---
FAM24A	118670	broad.mit.edu	37	10	124671179	124671179	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:124671179A>G	ENST00000368894.1	+	2	150	c.29A>G	c.(28-30)aAg>aGg	p.K10R		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	10						extracellular region (GO:0005576)		p.K10R(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTCAGGACGAAGATCATGATC	0.488																																						uc001lgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(28-30)AAG>AGG		family with sequence similarity 24, member A							377.0	323.0	341.0					10																	124671179		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124671179A>G		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.29A>G	10.37:g.124671179A>G	ENSP00000357889:p.Lys10Arg						p.K10R	NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	150	+		all_neural(114;0.169)|Glioma(114;0.222)	10						Missense_Mutation	SNP	ENST00000368894.1	37	c.29A>G	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.057804	0.55325	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.61	-1.72	0.08107	.	1.480510	0.04705	N	0.416659	T	0.16557	0.0398	N	0.24115	0.695	0.09310	N	1	P	0.37573	0.6	B	0.35353	0.201	T	0.10753	-1.0616	9	0.27785	T	0.31	.	1.6808	0.02831	0.3253:0.4027:0.1128:0.1592	.	10	A6NFZ4	FA24A_HUMAN	R	10	.	ENSP00000357889:K10R	K	+	2	0	FAM24A	124661169	0.000000	0.05858	0.000000	0.03702	0.893000	0.52053	-0.321000	0.08018	-0.314000	0.08716	0.379000	0.24179	AAG		PASS	0.488	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		42	117	42	117	---	---	---	---
DHX32	55760	broad.mit.edu	37	10	127529887	127529887	+	Intron	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:127529887A>G	ENST00000284690.3	-	8	2034				BCCIP_ENST00000299130.3_Missense_Mutation_p.I280V|DHX32_ENST00000284688.6_Intron|BCCIP_ENST00000368759.5_Missense_Mutation_p.I280V|BCCIP_ENST00000429863.2_Missense_Mutation_p.I250V|AL360176.1_ENST00000401153.1_RNA|DHX32_ENST00000368721.1_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32							mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.I280V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACCAGTTCCGATACAGCACAA	0.428																																						uc001ljd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(838-840)ATA>GTA		BRCA2 and CDKN1A-interacting protein isoform							86.0	80.0	82.0					10																	127529887		2203	4300	6503	SO:0001627	intron_variant	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127529887A>G		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1544-322T>C	10.37:g.127529887A>G						DHX32_uc001lje.1_Intron|DHX32_uc001ljf.1_Intron|DHX32_uc001ljg.1_Intron|BCCIP_uc010qui.1_Missense_Mutation_p.I278V|BCCIP_uc001ljc.3_Missense_Mutation_p.I280V|BCCIP_uc010quj.1_Missense_Mutation_p.I250V	p.I280V	NM_016567	NP_057651	Q9P287	BCCIP_HUMAN			7	861	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	Error:Variant_position_missing_in_Q9P287_after_alignment					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.838A>G	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	A	7.953	0.745349	0.15710	.	.	ENSG00000107949	ENST00000299130;ENST00000368759;ENST00000429863	T;T;T	0.45276	0.9;0.91;0.92	3.24	-2.16	0.07080	.	1.389240	0.04481	N	0.377866	T	0.25901	0.0631	.	.	.	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.22661	-1.0210	9	0.62326	D	0.03	-9.2785	0.3248	0.00309	0.3813:0.1948:0.2345:0.1894	.	250;278;280;280	B4E318;B4DUS0;Q9P287-2;Q9P287-4	.;.;.;.	V	280;280;250	ENSP00000299130:I280V;ENSP00000357748:I280V;ENSP00000394758:I250V	ENSP00000299130:I280V	I	+	1	0	BCCIP	127519877	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.252000	0.02880	-0.440000	0.07211	-0.250000	0.11733	ATA		PASS	0.428	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		7	27	7	27	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129907439	129907439	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:129907439C>T	ENST00000368654.3	-	13	3040	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	MKI67_ENST00000368653.3_Missense_Mutation_p.V529M|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	889					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.V889M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTACTTTCCACAGGTAGCTTC	0.403																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2665-2667)GTG>ATG		antigen identified by monoclonal antibody Ki-67							225.0	213.0	217.0					10																	129907439		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907439C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2665G>A	10.37:g.129907439C>T	ENSP00000357643:p.Val889Met					MKI67_uc001lkf.2_Missense_Mutation_p.V529M|MKI67_uc009yav.1_Missense_Mutation_p.V464M|MKI67_uc009yaw.1_Missense_Mutation_p.V39M	p.V889M	NM_002417	NP_002408	P46013	KI67_HUMAN			13	2860	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	889					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2665G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	6.915	0.538430	0.13250	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01527	4.82;4.8	3.65	-7.31	0.01441	.	2.470610	0.02051	N	0.050096	T	0.01870	0.0059	L	0.40543	1.245	0.09310	N	1	B;B;P	0.37015	0.343;0.343;0.578	B;B;B	0.33254	0.16;0.16;0.157	T	0.16247	-1.0409	10	0.44086	T	0.13	.	8.7952	0.34874	0.1254:0.6467:0.0:0.2279	.	888;529;889	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	889;529;888	ENSP00000357643:V889M;ENSP00000357642:V529M	ENSP00000357642:V529M	V	-	1	0	MKI67	129797429	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.815000	0.00359	-2.279000	0.00676	-1.264000	0.01445	GTG		PASS	0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		19	73	19	73	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135106682	135106682	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:135106682G>T	ENST00000252936.3	-	6	924	c.885C>A	c.(883-885)gcC>gcA	p.A295A	TUBGCP2_ENST00000368563.2_Silent_p.A295A|TUBGCP2_ENST00000543663.1_Silent_p.A323A|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000417178.2_Silent_p.A165A			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	295					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.A295A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGGTGCGCATGGCGGCCGCCA	0.567																																						uc001lmg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(883-885)GCC>GCA		tubulin, gamma complex associated protein 2							70.0	66.0	67.0					10																	135106682		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106682G>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.885C>A	10.37:g.135106682G>T						TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.A323A|TUBGCP2_uc009ybk.1_Silent_p.A295A|TUBGCP2_uc010qvd.1_Silent_p.A165A|TUBGCP2_uc001lmh.1_RNA	p.A295A	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	7	1242	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	295					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.885C>A	CCDS7676.1																																																																																				PASS	0.567	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			4	14	4	14	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135440117	135440117	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr10:135440117C>A	ENST00000425520.1	-	1	182	c.130G>T	c.(130-132)Ggc>Tgc	p.G44C	FRG2B_ENST00000443774.1_Missense_Mutation_p.G44C	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	44						nucleus (GO:0005634)		p.G44C(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCGGTCTTGCCTTTTTCTTTG	0.517																																						uc010qvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)GGC>TGC		FSHD region gene 2 family, member B							9.0	11.0	10.0					10																	135440117		2093	4178	6271	SO:0001583	missense	441581					nucleus		g.chr10:135440117C>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.130G>T	10.37:g.135440117C>A	ENSP00000401310:p.Gly44Cys						p.G44C	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	183	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	44					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.130G>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	8.013	0.758003	0.15846	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.35605	1.3;1.3	0.109	0.109	0.14578	.	.	.	.	.	T	0.32793	0.0841	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.61003	0.882	T	0.18524	-1.0334	8	0.44086	T	0.13	-3.1945	.	.	.	.	44	Q96QU4	FRG2B_HUMAN	C	44	ENSP00000408343:G44C;ENSP00000401310:G44C	ENSP00000401310:G44C	G	-	1	0	FRG2B	135290107	0.944000	0.32072	0.013000	0.15412	0.013000	0.08279	0.718000	0.25866	0.181000	0.19994	0.184000	0.17185	GGC		PASS	0.517	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		8	47	8	47	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4904106	4904106	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:4904106G>T	ENST00000322049.1	+	1	977	c.977G>T	c.(976-978)tGg>tTg	p.W326L	OR51T1_ENST00000380378.1_Missense_Mutation_p.W353L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W353L(1)|p.W326L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGGAAGATGGGATTGAAGG	0.463																																						uc010qyp.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1057-1059)TGG>TTG		olfactory receptor, family 51, subfamily T,							50.0	50.0	50.0					11																	4904106		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904106G>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.977G>T	11.37:g.4904106G>T	ENSP00000322679:p.Trp326Leu						p.W353L	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1058	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	326			Cytoplasmic (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.1058G>T		.	.	.	.	.	.	.	.	.	.	G	10.26	1.302509	0.23736	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.01068	5.38;5.47	4.47	0.349	0.16032	.	2.323100	0.02035	N	0.048867	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.17433	0.018	T	0.45483	-0.9258	10	0.30854	T	0.27	.	3.577	0.07938	0.3726:0.0:0.4586:0.1687	.	326	Q8NGJ9	O51T1_HUMAN	L	353;326	ENSP00000369738:W353L;ENSP00000322679:W326L	ENSP00000322679:W326L	W	+	2	0	OR51T1	4860682	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.094000	0.15107	-0.012000	0.14223	0.491000	0.48974	TGG		PASS	0.463	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		10	9	10	9	---	---	---	---
OR51G2	81282	broad.mit.edu	37	11	4936671	4936671	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:4936671C>A	ENST00000322013.3	-	1	251	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D75Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACCCAGGTCAATCAGAGCC	0.478																																						uc001lzr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(223-225)GAC>TAC		olfactory receptor, family 51, subfamily G,							86.0	76.0	79.0					11																	4936671		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936671C>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.223G>T	11.37:g.4936671C>A	ENSP00000322593:p.Asp75Tyr						p.D75Y	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	223	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	75			Helical; Name=2; (Potential).		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.223G>T	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424762	0.83667	.	.	ENSG00000176893	ENST00000322013	T	0.01185	5.21	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.16385	0.0394	H	0.98802	4.335	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.20505	-1.0273	10	0.87932	D	0	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	75	Q8NGK0	O51G2_HUMAN	Y	75	ENSP00000322593:D75Y	ENSP00000322593:D75Y	D	-	1	0	OR51G2	4893247	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	5.666000	0.68059	2.906000	0.99361	0.655000	0.94253	GAC		PASS	0.478	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		22	19	22	19	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969056	5969056	+	Silent	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:5969056T>A	ENST00000329564.6	+	1	487	c.480T>A	c.(478-480)acT>acA	p.T160T	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T160T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTTATGACTCTGCCCATCC	0.448																																						uc010qzt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(478-480)ACT>ACA		olfactory receptor, family 56, subfamily A,							126.0	127.0	127.0					11																	5969056		2189	4295	6484	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969056T>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.480T>A	11.37:g.5969056T>A							p.T160T	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	480	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	160			Helical; Name=4; (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.480T>A	CCDS41614.1																																																																																				PASS	0.448	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		24	33	24	33	---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129644	6129644	+	Missense_Mutation	SNP	G	G	T	rs370835981		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:6129644G>T	ENST00000316529.3	+	1	731	c.636G>T	c.(634-636)ttG>ttT	p.L212F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L212F(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)		CATGGGTCTTGGTTGGGAGTG	0.473																																						uc010qzx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(634-636)TTG>TTT		olfactory receptor, family 56, subfamily B,		G	PHE/LEU	0,4402		0,0,2201	255.0	251.0	252.0		636	-0.2	0.0	11		252	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR56B4	NM_001005181.1	22	0,1,6496	TT,TG,GG		0.0116,0.0,0.0077	benign	212/320	6129644	1,12993	2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129644G>T	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.636G>T	11.37:g.6129644G>T	ENSP00000321196:p.Leu212Phe						p.L212F	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	636	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	212			Helical; Name=5; (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.636G>T	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.389041	0.04932	0.0	1.16E-4	ENSG00000180919	ENST00000316529	T	0.00235	8.48	4.06	-0.192	0.13248	GPCR, rhodopsin-like superfamily (1);	0.309004	0.17728	U	0.163982	T	0.00144	0.0004	L	0.49513	1.565	0.09310	N	1	B	0.24092	0.097	B	0.30105	0.111	T	0.41698	-0.9494	10	0.56958	D	0.05	.	2.235	0.04006	0.3173:0.1188:0.4428:0.121	.	212	Q8NH76	O56B4_HUMAN	F	212	ENSP00000321196:L212F	ENSP00000321196:L212F	L	+	3	2	OR56B4	6086220	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.107000	0.00601	-0.124000	0.11724	0.556000	0.70494	TTG		PASS	0.473	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		7	105	7	105	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6651379	6651379	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:6651379G>A	ENST00000299441.3	-	10	5057	c.4646C>T	c.(4645-4647)cCg>cTg	p.P1549L	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1549	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1549L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGCGTGACGGCGAGGCGAA	0.716																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(4645-4647)CCG>CTG		dachsous 1 precursor							8.0	9.0	8.0					11																	6651379		2169	4220	6389	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651379G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4646C>T	11.37:g.6651379G>A	ENSP00000299441:p.Pro1549Leu						p.P1549L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	10	5056	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1549			Cadherin 15.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.4646C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821180	0.71028	.	.	ENSG00000166341	ENST00000299441	T	0.01705	4.68	4.91	4.91	0.64330	Cadherin (2);Cadherin-like (1);	0.000000	0.45126	D	0.000392	T	0.05181	0.0138	N	0.26042	0.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64922	-0.6293	10	0.22706	T	0.39	.	17.2606	0.87068	0.0:0.0:1.0:0.0	.	1549	Q96JQ0	PCD16_HUMAN	L	1549	ENSP00000299441:P1549L	ENSP00000299441:P1549L	P	-	2	0	DCHS1	6607955	1.000000	0.71417	0.629000	0.29254	0.267000	0.26476	4.859000	0.62954	2.561000	0.86390	0.400000	0.26472	CCG		PASS	0.716	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	5	4	5	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33689492	33689492	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:33689492G>A	ENST00000321505.4	+	20	5522	c.5342G>A	c.(5341-5343)cGt>cAt	p.R1781H	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1787H|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1781						integral component of membrane (GO:0016021)		p.R1781H(1)									AGGCTTCCTCGTCAGTACAGC	0.682																																						uc001mup.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5359-5361)CGT>CAT		hypothetical protein LOC25758							26.0	33.0	31.0					11																	33689492		2040	4190	6230	SO:0001583	missense	25758					integral to membrane		g.chr11:33689492G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5342G>A	11.37:g.33689492G>A	ENSP00000315295:p.Arg1781His						p.R1787H	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			20	5484	+			1781					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.5360G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453960	0.84209	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.67	5.67	0.87782	.	0.092202	0.45867	D	0.000338	T	0.58466	0.2124	N	0.19112	0.55	0.33925	D	0.641378	D	0.89917	1.0	D	0.79108	0.992	T	0.57808	-0.7747	9	0.14252	T	0.57	-12.5025	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1787	E9PAT2	.	H	1781;1787;1620	.	ENSP00000315295:R1781H	R	+	2	0	C11orf41	33646068	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	7.166000	0.77553	2.686000	0.91538	0.561000	0.74099	CGT		PASS	0.682	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		11	21	11	21	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47843340	47843340	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:47843340C>A	ENST00000378460.2	-	9	1259	c.1213G>T	c.(1213-1215)Gat>Tat	p.D405Y	NUP160_ENST00000528501.1_5'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.D291Y|NUP160_ENST00000528071.1_Missense_Mutation_p.D291Y|Y_RNA_ENST00000517065.1_RNA	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	405					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.D405Y(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GCCCAGATATCCGTGGAAGTT	0.418																																						uc001ngm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1213-1215)GAT>TAT		nucleoporin 160kDa							173.0	156.0	162.0					11																	47843340		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47843340C>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1213G>T	11.37:g.47843340C>A	ENSP00000367721:p.Asp405Tyr					NUP160_uc009ylw.2_RNA	p.D405Y	NM_015231	NP_056046	Q12769	NU160_HUMAN			9	1298	-			405					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.1213G>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941114	0.92526	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.44881	0.91;0.91;0.91	5.82	5.82	0.92795	.	0.050245	0.85682	D	0.000000	T	0.58850	0.2151	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	T	0.56062	-0.8041	10	0.52906	T	0.07	.	18.2796	0.90094	0.0:1.0:0.0:0.0	.	405	Q12769	NU160_HUMAN	Y	405;195;291;291	ENSP00000367721:D405Y;ENSP00000433590:D291Y;ENSP00000432367:D291Y	ENSP00000367721:D405Y	D	-	1	0	NUP160	47799916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.276000	0.65580	2.752000	0.94435	0.655000	0.94253	GAT		PASS	0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		7	44	7	44	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48146592	48146592	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:48146592C>T	ENST00000418331.2	+	6	1299	c.947C>T	c.(946-948)cCt>cTt	p.P316L	PTPRJ_ENST00000440289.2_Missense_Mutation_p.P316L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	316	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.P316L(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTCGTGGGACCTGTGGACCCA	0.587																																						uc001ngp.3																			2	Substitution - Missense(2)		lung(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(946-948)CCT>CTT		protein tyrosine phosphatase, receptor type, J							111.0	125.0	120.0					11																	48146592		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48146592C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.947C>T	11.37:g.48146592C>T	ENSP00000400010:p.Pro316Leu					PTPRJ_uc001ngo.3_Missense_Mutation_p.P316L	p.P316L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			6	1302	+			316			Extracellular (Potential).|Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.947C>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	9.454	1.091420	0.20471	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.36340	2.56;1.26	4.57	-9.13	0.00704	Fibronectin, type III (1);	.	.	.	.	T	0.17450	0.0419	N	0.22421	0.69	0.09310	N	1	B;P	0.37466	0.358;0.596	B;B	0.34873	0.05;0.191	T	0.11446	-1.0587	9	0.18710	T	0.47	.	10.5372	0.45011	0.4874:0.125:0.3876:0.0	.	316;316	Q12913;Q6P4H4	PTPRJ_HUMAN;.	L	316	ENSP00000400010:P316L;ENSP00000409733:P316L	ENSP00000278456:P316L	P	+	2	0	PTPRJ	48103168	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.844000	0.04345	-1.834000	0.01193	-1.284000	0.01376	CCT		PASS	0.587	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			21	43	21	43	---	---	---	---
OR4X1	390113	broad.mit.edu	37	11	48285947	48285947	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:48285947G>A	ENST00000320048.1	+	1	535	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V179I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTTCTGTGATGTCCACCCAGT	0.562																																						uc010rht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(535-537)GTC>ATC		olfactory receptor, family 4, subfamily X,							110.0	90.0	97.0					11																	48285947		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285947G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.535G>A	11.37:g.48285947G>A	ENSP00000321506:p.Val179Ile						p.V179I	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	535	+			179			Extracellular (Potential).		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.535G>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836344	0.50951	.	.	ENSG00000176567	ENST00000320048	T	0.36340	1.26	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.34193	0.0889	N	0.13272	0.32	0.09310	N	0.999999	P	0.40834	0.73	P	0.51415	0.669	T	0.16129	-1.0413	9	0.52906	T	0.07	.	10.6394	0.45584	0.0:0.195:0.805:0.0	.	179	Q8NH49	OR4X1_HUMAN	I	179	ENSP00000321506:V179I	ENSP00000321506:V179I	V	+	1	0	OR4X1	48242523	0.000000	0.05858	0.993000	0.49108	0.751000	0.42716	-0.779000	0.04659	2.413000	0.81919	0.551000	0.68910	GTC		PASS	0.562	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		14	16	14	16	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135842	55135842	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:55135842G>A	ENST00000314706.3	+	1	483	c.483G>A	c.(481-483)ttG>ttA	p.L161L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L161L(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTCATGAATTGATCACCATGA	0.418																																						uc010rif.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(481-483)TTG>TTA		olfactory receptor, family 4, subfamily A,							226.0	205.0	212.0					11																	55135842		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135842G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.483G>A	11.37:g.55135842G>A							p.L161L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	483	+			161			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.483G>A	CCDS31500.1																																																																																				PASS	0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		47	131	47	131	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418457	55418457	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:55418457T>G	ENST00000312422.2	+	1	78	c.78T>G	c.(76-78)ttT>ttG	p.F26L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAGTTTGTTTTGTGGTGTTTT	0.388																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(76-78)TTT>TTG		olfactory receptor, family 4, subfamily S,							107.0	92.0	97.0					11																	55418457		2180	4024	6204	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418457T>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.78T>G	11.37:g.55418457T>G	ENSP00000310337:p.Phe26Leu						p.F26L	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	78	+		all_epithelial(135;0.0748)	26			Helical; Name=1; (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.78T>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235139	0.22626	.	.	ENSG00000174982	ENST00000312422	T	0.04454	3.62	5.25	-10.5	0.00291	.	0.113843	0.39544	N	0.001324	T	0.04679	0.0127	M	0.64630	1.985	0.22017	N	0.999413	B	0.16603	0.018	B	0.19391	0.025	T	0.15435	-1.0437	10	0.66056	D	0.02	.	10.8972	0.47029	0.0:0.4567:0.0971:0.4462	.	26	Q8NH73	OR4S2_HUMAN	L	26	ENSP00000310337:F26L	ENSP00000310337:F26L	F	+	3	2	OR4S2	55175033	0.000000	0.05858	0.011000	0.14972	0.024000	0.10985	-1.063000	0.03465	-2.430000	0.00557	-1.271000	0.01417	TTT		PASS	0.388	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		7	50	7	50	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541730	55541730	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:55541730G>A	ENST00000361760.1	+	1	817	c.817G>A	c.(817-819)Gtt>Att	p.V273I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V273I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAGCCTCATAGTTACAGTGGC	0.408																																						uc010ril.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(817-819)GTT>ATT		olfactory receptor, family 5, subfamily D,							95.0	76.0	82.0					11																	55541730		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541730G>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.817G>A	11.37:g.55541730G>A	ENSP00000354800:p.Val273Ile						p.V273I	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	817	+		all_epithelial(135;0.196)	273			Extracellular (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.817G>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	1.317	-0.600507	0.03744	.	.	ENSG00000198877	ENST00000361760	T	0.00107	8.72	3.68	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.892356	0.09073	N	0.852505	T	0.00210	0.0006	L	0.48174	1.505	0.09310	N	1	B	0.27823	0.19	B	0.43950	0.437	T	0.31223	-0.9951	10	0.66056	D	0.02	-4.7843	3.9494	0.09363	0.271:0.2113:0.5177:0.0	.	273	Q8NGL4	OR5DD_HUMAN	I	273	ENSP00000354800:V273I	ENSP00000354800:V273I	V	+	1	0	OR5D13	55298306	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.058000	0.14301	0.640000	0.30582	0.486000	0.48141	GTT		PASS	0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		22	48	22	48	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890051	55890051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:55890051C>A	ENST00000313472.3	+	1	203	c.203C>A	c.(202-204)tCa>tAa	p.S68*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S68*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTCACCTGTCATTTATTGAC	0.438																																						uc001nii.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(202-204)TCA>TAA		olfactory receptor, family 8, subfamily H,							240.0	239.0	239.0					11																	55890051		2201	4293	6494	SO:0001587	stop_gained	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890051C>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.203C>A	11.37:g.55890051C>A	ENSP00000323928:p.Ser68*						p.S68*	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	203	+	Esophageal squamous(21;0.00693)		68			Helical; Name=2; (Potential).		Q6IFB7	Nonsense_Mutation	SNP	ENST00000313472.3	37	c.203C>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816606	0.16607	.	.	ENSG00000181761	ENST00000313472	.	.	.	3.44	3.44	0.39384	.	0.000000	0.43416	D	0.000576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3063	0.73995	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000323928:S68X	S	+	2	0	OR8H3	55646627	0.002000	0.14202	0.994000	0.49952	0.140000	0.21249	1.866000	0.39489	1.621000	0.50320	0.173000	0.16961	TCA		PASS	0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		8	255	8	255	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56954786	56954786	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:56954786G>T	ENST00000497933.1	+	2	1005	c.858G>T	c.(856-858)gaG>gaT	p.E286D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	256					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E286D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CACTCACTGAGGAGAGCTTCA	0.587																																						uc001njl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GAG>GAT		leucine rich repeat containing 55							144.0	105.0	118.0					11																	56954786		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56954786G>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.858G>T	11.37:g.56954786G>T	ENSP00000419542:p.Glu286Asp					LRRC55_uc001njm.1_5'Flank	p.E286D	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			2	1005	+			256			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.858G>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600173	0.66332	.	.	ENSG00000183908	ENST00000497933	T	0.22539	1.95	5.74	1.7	0.24286	Cysteine-rich flanking region, C-terminal (1);	0.098521	0.44688	N	0.000439	T	0.08044	0.0201	N	0.04132	-0.27	0.32666	N	0.51744	B	0.28900	0.227	B	0.24006	0.05	T	0.11991	-1.0565	10	0.62326	D	0.03	.	5.4153	0.16370	0.246:0.1453:0.6086:0.0	.	256	Q6ZSA7	LRC55_HUMAN	D	286	ENSP00000419542:E286D	ENSP00000419542:E286D	E	+	3	2	LRRC55	56711362	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	1.082000	0.30803	0.059000	0.16252	0.563000	0.77884	GAG		PASS	0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		11	47	11	47	---	---	---	---
P2RX3	5024	broad.mit.edu	37	11	57135888	57135888	+	Missense_Mutation	SNP	C	C	A	rs570530884		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:57135888C>A	ENST00000263314.2	+	10	1014	c.980C>A	c.(979-981)gCg>gAg	p.A327E		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	327					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.A327E(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGCTCTGTGGCGGCCTTTACT	0.622																																						uc001nju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)GCG>GAG		purinergic receptor P2X3							204.0	160.0	175.0					11																	57135888		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57135888C>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.980C>A	11.37:g.57135888C>A	ENSP00000263314:p.Ala327Glu						p.A327E	NM_002559	NP_002550	P56373	P2RX3_HUMAN			10	1056	+			327			Helical; Name=2; (Potential).		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.980C>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031623	0.93575	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.05717	3.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00060	-1.2162	10	0.87932	D	0	-19.925	17.2809	0.87128	0.0:1.0:0.0:0.0	.	327	P56373	P2RX3_HUMAN	E	326;327	ENSP00000263314:A327E	ENSP00000263314:A327E	A	+	2	0	P2RX3	56892464	1.000000	0.71417	0.984000	0.44739	0.969000	0.65631	5.963000	0.70372	2.894000	0.99253	0.655000	0.94253	GCG		PASS	0.622	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		18	78	18	78	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183967	61183967	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:61183967C>A	ENST00000394888.4	-	6	747	c.575G>T	c.(574-576)cGa>cTa	p.R192L	CPSF7_ENST00000340437.4_Missense_Mutation_p.R235L|CPSF7_ENST00000448745.1_Missense_Mutation_p.R183L|CPSF7_ENST00000439958.3_Missense_Mutation_p.R183L	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	192					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R192L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTAGAATCTCGGGAATGGGC	0.522																																						uc001nrq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(574-576)CGA>CTA		pre-mRNA cleavage factor I, 59 kDa subunit							82.0	81.0	82.0					11																	61183967		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183967C>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.575G>T	11.37:g.61183967C>A	ENSP00000378352:p.Arg192Leu					CPSF7_uc001nro.2_Missense_Mutation_p.R183L|CPSF7_uc001nrp.2_Missense_Mutation_p.R235L|CPSF7_uc001nrr.2_Missense_Mutation_p.R183L|CPSF7_uc001nrs.1_Missense_Mutation_p.R93L	p.R192L	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			6	709	-			192					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.575G>T	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668887	0.67814	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.77	4.86	0.63082	.	0.251543	0.35013	N	0.003512	T	0.60444	0.2269	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.29253	0.154;0.093;0.239;0.15	B;B;B;B	0.26693	0.022;0.013;0.072;0.03	T	0.56926	-0.7898	10	0.28530	T	0.3	-1.6057	10.629	0.45525	0.0:0.8529:0.0:0.1471	.	183;192;235;183	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	L	235;192;183;183;183;183;183;183	ENSP00000397203:R183L;ENSP00000407394:R183L;ENSP00000437860:R183L;ENSP00000438381:R183L;ENSP00000437531:R183L;ENSP00000393828:R183L	ENSP00000345412:R235L	R	-	2	0	CPSF7	60940543	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.308000	0.43690	1.449000	0.47699	-0.136000	0.14681	CGA		PASS	0.522	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		5	87	5	87	---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61323677	61323677	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:61323677C>G	ENST00000263846.4	-	2	361	c.34G>C	c.(34-36)Gcg>Ccg	p.A12P	SYT7_ENST00000542670.1_Missense_Mutation_p.A12P|SYT7_ENST00000542836.1_Missense_Mutation_p.A12P|SYT7_ENST00000539008.1_Missense_Mutation_p.A12P|SYT7_ENST00000535826.1_Missense_Mutation_p.A12P|SYT7_ENST00000540677.1_Missense_Mutation_p.A12P	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	12					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.A12P(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCGAGGGCGCCCCTGGGGAG	0.652																																						uc001nrv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(34-36)GCG>CCG		synaptotagmin VII							62.0	54.0	56.0					11																	61323677		2202	4298	6500	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61323677C>G	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.34G>C	11.37:g.61323677C>G	ENSP00000263846:p.Ala12Pro					SYT7_uc009ynr.2_Missense_Mutation_p.A12P|SYT7_uc001nrx.1_RNA	p.A12P	NM_004200	NP_004191	O43581	SYT7_HUMAN			2	40	-			12			Vesicular (Potential).		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.34G>C	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355570	0.82243	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.61158	0.26;0.13;0.39;0.23;0.19;0.23;1.68	4.88	4.88	0.63580	.	0.454986	0.20491	N	0.091296	T	0.46092	0.1375	N	0.14661	0.345	0.33968	D	0.646414	P;B	0.52061	0.95;0.442	P;B	0.47573	0.55;0.094	T	0.57814	-0.7746	10	0.36615	T	0.2	.	12.8563	0.57886	0.0:0.9179:0.0:0.0821	.	12;12	F5GZU9;O43581	.;SYT7_HUMAN	P	12	ENSP00000263846:A12P;ENSP00000444201:A12P;ENSP00000439694:A12P;ENSP00000444568:A12P;ENSP00000444019:A12P;ENSP00000437720:A12P;ENSP00000443576:A12P	ENSP00000263846:A12P	A	-	1	0	SYT7	61080253	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.130000	0.50508	2.403000	0.81681	0.591000	0.81541	GCG		PASS	0.652	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		4	9	4	9	---	---	---	---
MACROD1	28992	broad.mit.edu	37	11	63885079	63885079	+	Intron	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:63885079C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.T447M|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.T447M(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						AAGGCCCTGACGGCAGACTCC	0.672																																						uc001nyi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)ACG>ATG		fibronectin leucine rich transmembrane protein							37.0	36.0	37.0					11																	63885079		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63885079C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33631G>A	11.37:g.63885079C>T						MACROD1_uc001nyh.2_Intron	p.T447M	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN			2	1681	+			419			Fibronectin type-III.|Extracellular (Potential).		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.1340C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789142	0.49997	.	.	ENSG00000126500	ENST00000246841	T	0.06687	3.27	5.58	4.63	0.57726	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.066576	0.64402	D	0.000013	T	0.18882	0.0453	L	0.46157	1.445	0.41484	D	0.988184	D	0.76494	0.999	P	0.58873	0.847	T	0.00235	-1.1892	10	0.56958	D	0.05	-17.092	15.417	0.74977	0.0:0.8608:0.1392:0.0	.	419	Q9NZU1	FLRT1_HUMAN	M	447	ENSP00000246841:T447M	ENSP00000246841:T447M	T	+	2	0	FLRT1	63641655	0.965000	0.33210	0.952000	0.39060	0.831000	0.47069	2.710000	0.47169	2.615000	0.88500	0.650000	0.86243	ACG		PASS	0.672	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		5	9	5	9	---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64027528	64027528	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:64027528G>T	ENST00000540288.1	+	14	1656	c.1553G>T	c.(1552-1554)gGc>gTc	p.G518V	PLCB3_ENST00000325234.5_Missense_Mutation_p.G451V|PLCB3_ENST00000279230.6_Missense_Mutation_p.G518V	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	518					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G518V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGCTGCCCAGGCCTGAGCAAT	0.617																																						uc001nzb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1552-1554)GGC>GTC		phospholipase C beta 3							31.0	32.0	31.0					11																	64027528		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64027528G>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1553G>T	11.37:g.64027528G>T	ENSP00000443631:p.Gly518Val					PLCB3_uc009ypg.1_Missense_Mutation_p.G518V|PLCB3_uc009yph.1_Missense_Mutation_p.G451V|PLCB3_uc009ypi.2_Missense_Mutation_p.G518V	p.G518V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			14	1553	+			518					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1553G>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082422	0.36758	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.20881	2.17;2.17;2.04	5.66	3.69	0.42338	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.949822	0.08892	N	0.878491	T	0.19846	0.0477	L	0.40543	1.245	0.58432	D	0.999997	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.02610	-1.1134	10	0.32370	T	0.25	.	11.745	0.51815	0.0:0.4329:0.5671:0.0	.	451;518	G5E960;Q01970	.;PLCB3_HUMAN	V	518;518;451	ENSP00000279230:G518V;ENSP00000443631:G518V;ENSP00000324660:G451V	ENSP00000279230:G518V	G	+	2	0	PLCB3	63784104	0.999000	0.42202	0.998000	0.56505	0.839000	0.47603	1.839000	0.39220	1.362000	0.46000	0.561000	0.74099	GGC		PASS	0.617	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			8	5	8	5	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70170596	70170596	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:70170596G>T	ENST00000253925.7	+	3	568	c.353G>T	c.(352-354)aGg>aTg	p.R118M	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R118M|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	118					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R118M(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAAGCAGAAAGGAATAACACC	0.493																																						uc001opo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(352-354)AGG>ATG		PTPRF interacting protein alpha 1 isoform b							138.0	139.0	139.0					11																	70170596		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70170596G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.353G>T	11.37:g.70170596G>T	ENSP00000253925:p.Arg118Met					PPFIA1_uc001opn.1_Missense_Mutation_p.R118M|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	p.R118M	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		3	551	+			118			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.353G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107470	0.77096	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746	T;T;T	0.31510	1.49;1.49;1.49	5.28	3.4	0.38934	.	0.060508	0.64402	U	0.000004	T	0.56804	0.2010	M	0.86420	2.815	0.47819	D	0.999525	D;D	0.89917	0.999;1.0	D;D	0.75020	0.967;0.985	T	0.61068	-0.7137	10	0.87932	D	0	.	10.183	0.42980	0.0721:0.0:0.7913:0.1365	.	118;118	Q13136;Q13136-2	LIPA1_HUMAN;.	M	118	ENSP00000253925:R118M;ENSP00000374198:R118M;ENSP00000432722:R118M	ENSP00000253925:R118M	R	+	2	0	PPFIA1	69848244	1.000000	0.71417	0.129000	0.21949	0.994000	0.84299	7.663000	0.83820	0.701000	0.31803	0.655000	0.94253	AGG		PASS	0.493	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		16	686	16	686	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70172786	70172786	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:70172786G>T	ENST00000253925.7	+	7	1007	c.792G>T	c.(790-792)agG>agT	p.R264S	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R264S|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	264					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.R264S(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGCAGTCAAGGGAACAGAGCC	0.438																																						uc001opo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(790-792)AGG>AGT		PTPRF interacting protein alpha 1 isoform b							183.0	190.0	188.0					11																	70172786		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172786G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.792G>T	11.37:g.70172786G>T	ENSP00000253925:p.Arg264Ser					PPFIA1_uc001opn.1_Missense_Mutation_p.R264S|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.R264S	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		7	990	+			264			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.792G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989157	0.18966	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.40756	1.02;1.02	4.77	-5.92	0.02261	.	0.410373	0.24117	U	0.041389	T	0.16642	0.0400	N	0.11064	0.09	0.21579	N	0.999636	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.15925	-1.0420	10	0.20519	T	0.43	.	9.6093	0.39652	0.5902:0.0959:0.3139:0.0	.	264;264	Q13136;Q13136-2	LIPA1_HUMAN;.	S	264	ENSP00000253925:R264S;ENSP00000374198:R264S	ENSP00000253925:R264S	R	+	3	2	PPFIA1	69850434	0.000000	0.05858	0.007000	0.13788	0.939000	0.58152	-1.079000	0.03410	-1.107000	0.03004	0.655000	0.94253	AGG		PASS	0.438	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		17	897	17	897	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	73978304	73978304	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:73978304G>T	ENST00000331597.4	-	13	1669	c.1624C>A	c.(1624-1626)Cct>Act	p.P542T	P4HA3_ENST00000427714.2_Silent_p.A539A	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	542						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.P542T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CAGTCTTCAGGGCTGGAGCTG	0.557																																						uc001ouz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1624-1626)CCT>ACT		prolyl 4-hydroxylase, alpha III subunit							87.0	74.0	79.0					11																	73978304		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:73978304G>T	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1624C>A	11.37:g.73978304G>T	ENSP00000332170:p.Pro542Thr					P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.A539A	p.P542T	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN			13	1667	-	Breast(11;2.31e-05)		542					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.1624C>A	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763321	0.89932	.	.	ENSG00000149380	ENST00000331597	T	0.56103	0.48	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.58780	0.845	T	0.57911	-0.7729	10	0.25751	T	0.34	-16.6063	16.2815	0.82692	0.0:0.0:1.0:0.0	.	542	Q7Z4N8	P4HA3_HUMAN	T	542	ENSP00000332170:P542T	ENSP00000332170:P542T	P	-	1	0	P4HA3	73655952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.925000	0.87563	2.713000	0.92767	0.655000	0.94253	CCT		PASS	0.557	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		9	13	9	13	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76207466	76207466	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:76207466C>A	ENST00000529032.1	+	8	1316	c.1316C>A	c.(1315-1317)cCt>cAt	p.P439H	C11orf30_ENST00000343878.3_Missense_Mutation_p.P439H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P454H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P453H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P439H|C11orf30_ENST00000524490.1_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.P440H|C11orf30_ENST00000525038.1_Missense_Mutation_p.P454H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	439	Gln-rich.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P439H(1)|p.P439R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGCAGTCTCCTTTGCCACCT	0.428																																						uc001oxl.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(5)|skin(1)	6						c.(1315-1317)CCT>CAT		EMSY protein							131.0	122.0	125.0					11																	76207466		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76207466C>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1316C>A	11.37:g.76207466C>A	ENSP00000432327:p.Pro439His					C11orf30_uc009yuj.1_Missense_Mutation_p.P454H|C11orf30_uc010rsa.1_Missense_Mutation_p.P389H|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Missense_Mutation_p.P454H|C11orf30_uc010rsc.1_Missense_Mutation_p.P454H|C11orf30_uc001oxn.2_Missense_Mutation_p.P440H|C11orf30_uc010rsd.1_Missense_Mutation_p.P453H	p.P439H	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			9	1459	+			439			Interaction with BRCA2.|Gln-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1316C>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763880	0.49574	.	.	ENSG00000158636	ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.82	4.85	0.62838	.	0.562063	0.20666	N	0.087938	T	0.31231	0.0790	N	0.14661	0.345	0.23966	N	0.996326	B;B;B;B;P;B;B	0.36315	0.119;0.232;0.232;0.374;0.547;0.087;0.087	B;B;B;B;B;B;B	0.38616	0.063;0.063;0.063;0.186;0.277;0.09;0.09	T	0.29150	-1.0021	9	0.48119	T	0.1	0.0736	16.0448	0.80714	0.178:0.822:0.0:0.0	.	453;454;454;439;389;440;439	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	H	439;439;389;454;453;440;454;439	.	ENSP00000334130:P439H	P	+	2	0	C11orf30	75885114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.140000	0.42159	2.756000	0.94617	0.563000	0.77884	CCT		PASS	0.428	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		6	72	6	72	---	---	---	---
INTS4	92105	broad.mit.edu	37	11	77705659	77705659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:77705659C>A	ENST00000534064.1	-	1	65	c.31G>T	c.(31-33)Gag>Tag	p.E11*	INTS4_ENST00000527522.1_Nonsense_Mutation_p.E11*|INTS4_ENST00000529807.1_Nonsense_Mutation_p.E11*	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	11					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.E11*(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GTGAATTCCTCATAAACCCGC	0.572																																						uc001oys.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(31-33)GAG>TAG		integrator complex subunit 4							89.0	84.0	86.0					11																	77705659		2200	4292	6492	SO:0001587	stop_gained	92105				snRNA processing	integrator complex	protein binding	g.chr11:77705659C>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.31G>T	11.37:g.77705659C>A	ENSP00000434466:p.Glu11*					INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Nonsense_Mutation_p.E11*|INTS4_uc001oyv.1_RNA	p.E11*	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		1	59	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		11					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Nonsense_Mutation	SNP	ENST00000534064.1	37	c.31G>T	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	38	7.112615	0.98070	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-22.3506	19.8735	0.96861	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000407787:E11X	E	-	1	0	INTS4	77383307	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.695000	0.74593	2.932000	0.99384	0.643000	0.83706	GAG		PASS	0.572	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		4	23	4	23	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92881960	92881960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:92881960C>A	ENST00000326402.4	-	11	1388	c.1258G>T	c.(1258-1260)Gga>Tga	p.G420*	SLC36A4_ENST00000529184.1_Nonsense_Mutation_p.G285*	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	420					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G420*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTCACAGCTCCAACGAAGGAA	0.353																																						uc001pdn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1258-1260)GGA>TGA		solute carrier family 36 (proton/amino acid							61.0	66.0	64.0					11																	92881960		2200	4297	6497	SO:0001587	stop_gained	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92881960C>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1258G>T	11.37:g.92881960C>A	ENSP00000317382:p.Gly420*					uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Nonsense_Mutation_p.G285*	p.G420*	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			11	1355	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	420			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Nonsense_Mutation	SNP	ENST00000326402.4	37	c.1258G>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	42	9.548831	0.99202	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.735	19.1304	0.93404	0.0:1.0:0.0:0.0	.	.	.	.	X	420;285	.	ENSP00000317382:G420X	G	-	1	0	SLC36A4	92521608	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.407000	0.73280	2.515000	0.84797	0.455000	0.32223	GGA		PASS	0.353	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			5	58	5	58	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94731244	94731244	+	Silent	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:94731244G>C	ENST00000335080.5	+	3	1540	c.708G>C	c.(706-708)cgG>cgC	p.R236R	KDM4D_ENST00000536741.1_Silent_p.R236R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	236	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R236R(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAGTTCCCGGGGTTGTGGGG	0.602																																						uc001pfe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)CGG>CGC		jumonji domain containing 2D							41.0	44.0	43.0					11																	94731244		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731244G>C	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.708G>C	11.37:g.94731244G>C							p.R236R	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1540	+			236			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.708G>C	CCDS8302.1																																																																																				PASS	0.602	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		13	16	13	16	---	---	---	---
SESN3	143686	broad.mit.edu	37	11	94922999	94922999	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:94922999C>T	ENST00000536441.1	-	4	805	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.E157K|SESN3_ENST00000278499.2_Intron|SESN3_ENST00000416495.2_Missense_Mutation_p.E157K|SESN3_ENST00000537480.1_5'Flank|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	157					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.E157K(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTATTAATTTCATTAAGATTT	0.353																																						uc001pfk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GAA>AAA		sestrin 3							107.0	104.0	105.0					11																	94922999		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94922999C>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.469G>A	11.37:g.94922999C>T	ENSP00000441927:p.Glu157Lys					SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Missense_Mutation_p.E157K	p.E157K	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	4	691	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	157					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.469G>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	35	5.486552	0.96323	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495	T;T;T	0.45668	0.89;0.89;0.89	5.78	5.78	0.91487	.	0.055965	0.64402	D	0.000002	T	0.59715	0.2214	M	0.63169	1.94	0.80722	D	1	D;D	0.61697	0.99;0.979	P;P	0.58577	0.819;0.841	T	0.54410	-0.8298	10	0.38643	T	0.18	-0.9401	20.0211	0.97503	0.0:1.0:0.0:0.0	.	157;157	P58005-3;P58005	.;SESN3_HUMAN	K	157	ENSP00000441927:E157K;ENSP00000376926:E157K;ENSP00000407008:E157K	ENSP00000376926:E157K	E	-	1	0	SESN3	94562647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.573000	0.67417	2.722000	0.93159	0.563000	0.77884	GAA		PASS	0.353	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		11	21	11	21	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101815132	101815132	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:101815132A>T	ENST00000263468.8	+	3	655	c.385A>T	c.(385-387)Agg>Tgg	p.R129W		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	129								p.R129W(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTCACAGCGGAGGAAAGCAGG	0.343																																						uc001pgm.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(385-387)AGG>TGG		hypothetical protein LOC57562							69.0	69.0	69.0					11																	101815132		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101815132A>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.385A>T	11.37:g.101815132A>T	ENSP00000263468:p.Arg129Trp					KIAA1377_uc001pgn.2_Missense_Mutation_p.R85W|KIAA1377_uc009yxa.1_5'UTR	p.R129W	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	3	655	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	129					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.385A>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931088	0.73327	.	.	ENSG00000110318	ENST00000263468	T	0.12879	2.64	6.02	6.02	0.97574	.	0.244071	0.38959	N	0.001501	T	0.35364	0.0929	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.08806	-1.0704	10	0.87932	D	0	-4.6951	11.5185	0.50536	0.8503:0.1497:0.0:0.0	.	129	Q9P2H0	K1377_HUMAN	W	129	ENSP00000263468:R129W	ENSP00000263468:R129W	R	+	1	2	KIAA1377	101320342	0.997000	0.39634	0.996000	0.52242	0.847000	0.48162	3.270000	0.51600	2.299000	0.77371	0.528000	0.53228	AGG		PASS	0.343	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		15	11	15	11	---	---	---	---
ATM	472	broad.mit.edu	37	11	108175517	108175517	+	Missense_Mutation	SNP	C	C	T	rs538452060		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:108175517C>T	ENST00000452508.2	+	38	5801	c.5612C>T	c.(5611-5613)aCc>aTc	p.T1871I	ATM_ENST00000278616.4_Missense_Mutation_p.T1871I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1871					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.T1871I(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGATTTTTCACCAGCTGTCTT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		13433	0.0		0.0	False		,,,				2504	0.0					uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(5611-5613)ACC>ATC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							66.0	64.0	65.0					11																	108175517		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108175517C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5612C>T	11.37:g.108175517C>T	ENSP00000388058:p.Thr1871Ile	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.T1871I|ATM_uc001pke.1_Missense_Mutation_p.T523I|ATM_uc001pkg.1_Missense_Mutation_p.T228I|ATM_uc009yxt.1_Silent_p.H14H	p.T1871I	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	5997	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1871					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5612C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776428	0.31411	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.77750	-1.12;-1.12	5.52	2.53	0.30540	Armadillo-type fold (1);	0.187130	0.56097	N	0.000032	T	0.75324	0.3834	M	0.68317	2.08	0.24944	N	0.991836	D	0.54772	0.968	P	0.45195	0.473	T	0.67015	-0.5777	10	0.41790	T	0.15	.	10.9182	0.47148	0.0:0.5649:0.3679:0.0672	.	1871	Q13315	ATM_HUMAN	I	1871	ENSP00000278616:T1871I;ENSP00000388058:T1871I	ENSP00000278616:T1871I	T	+	2	0	ATM	107680727	0.856000	0.29760	0.290000	0.24890	0.541000	0.35023	1.564000	0.36375	0.335000	0.23614	0.591000	0.81541	ACC		PASS	0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		12	14	12	14	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117310040	117310040	+	Silent	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:117310040C>G	ENST00000321322.6	-	23	4267	c.4266G>C	c.(4264-4266)acG>acC	p.T1422T	DSCAML1_ENST00000527706.1_Silent_p.T1152T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1362	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.T1422T(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)		TGGCCGTGCACGTGTAGTAGC	0.597																																						uc001prh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(4264-4266)ACG>ACC		Down syndrome cell adhesion molecule like 1							127.0	109.0	115.0					11																	117310040		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.chr11:117310040C>G		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.4266G>C	11.37:g.117310040C>G							p.T1422T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	23	4268	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1362			Extracellular (Potential).|Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.4266G>C	CCDS8384.1																																																																																				PASS	0.597	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		10	30	10	30	---	---	---	---
HINFP	25988	broad.mit.edu	37	11	119001518	119001518	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:119001518C>A	ENST00000350777.2	+	3	328	c.265C>A	c.(265-267)Cac>Aac	p.H89N	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.H89N	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	89					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.H89N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTCTACTTCCACTGCTACCA	0.542																																						uc001pvp.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(265-267)CAC>AAC		MBD2 (methyl-CpG-binding protein)-interacting							140.0	125.0	130.0					11																	119001518		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119001518C>A	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.265C>A	11.37:g.119001518C>A	ENSP00000318085:p.His89Asn					HINFP_uc010rzb.1_Missense_Mutation_p.H89N|HINFP_uc001pvq.2_Missense_Mutation_p.H89N|HINFP_uc001pvr.2_5'Flank	p.H89N	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			4	454	+			89					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.265C>A	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539474	0.85917	.	.	ENSG00000172273	ENST00000350777;ENST00000529988;ENST00000527410;ENST00000532312	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.93	5.02	0.67125	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.85041	2.73	0.58432	D	0.999998	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.98	T	0.71991	-0.4425	10	0.87932	D	0	-31.6463	15.3251	0.74154	0.0:0.9332:0.0:0.0668	.	89;89	B4DTN3;Q9BQA5	.;HINFP_HUMAN	N	89	ENSP00000318085:H89N;ENSP00000431468:H89N;ENSP00000436815:H89N;ENSP00000434574:H89N	ENSP00000318085:H89N	H	+	1	0	HINFP	118506728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	1.528000	0.49103	0.655000	0.94253	CAC		PASS	0.542	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		5	56	5	56	---	---	---	---
GRAMD1B	57476	broad.mit.edu	37	11	123464819	123464819	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:123464819T>A	ENST00000529750.1	+	4	612	c.285T>A	c.(283-285)aaT>aaA	p.N95K	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.N102K|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.N95K	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	95						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.N95K(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)		AGCAGAGAAATGAAGACTTCA	0.527																																						uc001pyx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(283-285)AAT>AAA		GRAM domain containing 1B							99.0	95.0	97.0					11																	123464819		1924	4141	6065	SO:0001583	missense	57476					integral to membrane		g.chr11:123464819T>A	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.285T>A	11.37:g.123464819T>A	ENSP00000436500:p.Asn95Lys					GRAMD1B_uc001pyw.2_Missense_Mutation_p.N102K|GRAMD1B_uc010rzw.1_Missense_Mutation_p.N55K|GRAMD1B_uc010rzx.1_Missense_Mutation_p.N55K|GRAMD1B_uc009zbe.1_Missense_Mutation_p.N91K	p.N95K	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	4	614	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	95					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.285T>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217627	0.79352	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.38560	1.49;1.51;1.51;1.54;1.13	5.59	4.47	0.54385	.	0.043580	0.85682	D	0.000000	T	0.50650	0.1628	L	0.32530	0.975	0.80722	D	1	P;P;D;P	0.76494	0.781;0.851;0.999;0.884	B;P;D;P	0.75484	0.436;0.71;0.986;0.517	T	0.51631	-0.8681	10	0.72032	D	0.01	.	10.2093	0.43131	0.0:0.1376:0.0:0.8624	.	55;102;95;102	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	K	102;102;95;95;55;91	ENSP00000402457:N102K;ENSP00000325628:N95K;ENSP00000436500:N95K;ENSP00000432987:N55K;ENSP00000434214:N91K	ENSP00000325628:N95K	N	+	3	2	GRAMD1B	122970029	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.865000	0.39479	1.064000	0.40671	0.523000	0.50628	AAT		PASS	0.527	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		22	24	22	24	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810687	123810687	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:123810687C>A	ENST00000307033.2	+	1	438	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGCGTATGACCGCTACATTGC	0.517																																						uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)CGC>AGC		olfactory receptor, family 4, subfamily D,							137.0	114.0	121.0					11																	123810687		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810687C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.364C>A	11.37:g.123810687C>A	ENSP00000305970:p.Arg122Ser						p.R122S	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	364	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	122			Cytoplasmic (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.364C>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596453	0.46318	.	.	ENSG00000171014	ENST00000307033	T	0.77620	-1.11	5.5	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	D	0.83667	0.5304	H	0.95712	3.71	0.42438	D	0.992702	B	0.31503	0.326	B	0.35813	0.211	D	0.85445	0.1157	10	0.87932	D	0	-4.8082	9.771	0.40589	0.1398:0.7864:0.0:0.0738	.	122	Q8NGN0	OR4D5_HUMAN	S	122	ENSP00000305970:R122S	ENSP00000305970:R122S	R	+	1	0	OR4D5	123315897	0.998000	0.40836	1.000000	0.80357	0.601000	0.36947	3.102000	0.50291	1.325000	0.45301	0.655000	0.94253	CGC		PASS	0.517	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		24	23	24	23	---	---	---	---
FAM118B	79607	broad.mit.edu	37	11	126126696	126126696	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr11:126126696C>A	ENST00000533050.1	+	7	1424	c.931C>A	c.(931-933)Cca>Aca	p.P311T	FAM118B_ENST00000360194.4_Missense_Mutation_p.P311T|FAM118B_ENST00000529731.1_Missense_Mutation_p.P235T	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	311								p.P311T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGCCGATCTTCCAGAATATTT	0.448																																						uc001qdf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CCA>ACA		hypothetical protein LOC79607							169.0	176.0	174.0					11																	126126696		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126696C>A	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.931C>A	11.37:g.126126696C>A	ENSP00000433343:p.Pro311Thr					FAM118B_uc009zca.2_Missense_Mutation_p.P315T|FAM118B_uc001qdg.2_Missense_Mutation_p.P311T	p.P311T	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1114	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	311					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.931C>A	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600649	0.66332	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000525338	T;T;T;T;T	0.61627	1.36;1.36;1.36;1.36;0.09	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	L	0.32530	0.975	0.80722	D	1	B;P;D	0.62365	0.241;0.9;0.991	B;B;P	0.58013	0.086;0.289;0.831	T	0.53823	-0.8384	10	0.17369	T	0.5	-9.0711	18.568	0.91124	0.0:1.0:0.0:0.0	.	235;311;311	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	T	311;311;235;311;235	ENSP00000433343:P311T;ENSP00000434952:P311T;ENSP00000432712:P235T;ENSP00000353321:P311T;ENSP00000435754:P235T	ENSP00000353321:P311T	P	+	1	0	FAM118B	125631906	1.000000	0.71417	0.928000	0.36995	0.735000	0.41995	7.470000	0.80973	2.608000	0.88229	0.591000	0.81541	CCA		PASS	0.448	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		103	108	103	108	---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1039000	1039000	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:1039000C>A	ENST00000358495.3	-	5	471	c.333G>T	c.(331-333)gtG>gtT	p.V111V	RAD52_ENST00000545564.1_Silent_p.V111V|RAD52_ENST00000539046.1_Silent_p.V34V|RAD52_ENST00000536177.1_Silent_p.V111V|RAD52_ENST00000430095.2_Silent_p.V111V	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	111					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)	p.V111V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GCTGGACCCTCACAAATGCAC	0.542								Homologous recombination																														uc001qis.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(331-333)GTG>GTT	Homologous_recombination	RAD52 homolog							287.0	267.0	273.0					12																	1039000		2203	4300	6503	SO:0001819	synonymous_variant	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1039000C>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.333G>T	12.37:g.1039000C>A						RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.V34V|RAD52_uc001qiu.1_Silent_p.V111V|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.V111V|RAD52_uc001qix.1_Silent_p.V111V	p.V111V	NM_134424	NP_602296	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		5	447	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		111					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	c.333G>T	CCDS8507.2																																																																																				PASS	0.542	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		8	253	8	253	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2058392	2058392	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:2058392G>A	ENST00000280665.6	-	8	1712	c.1633C>T	c.(1633-1635)Ctc>Ttc	p.L545F	DCP1B_ENST00000397173.4_Missense_Mutation_p.L443F	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	545					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.L545F(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACAGGCAAGAGGCCGCTCTCC	0.647																																						uc001qjx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1633-1635)CTC>TTC		decapping enzyme Dcp1b							57.0	55.0	56.0					12																	2058392		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.chr12:2058392G>A	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.1633C>T	12.37:g.2058392G>A	ENSP00000280665:p.Leu545Phe					DCP1B_uc010sdy.1_Missense_Mutation_p.L443F	p.L545F	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		8	1713	-			545					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1633C>T	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	6.642	0.486902	0.12641	.	.	ENSG00000151065	ENST00000280665;ENST00000397173	T;T	0.21191	2.02;2.03	3.94	3.04	0.35103	.	0.615682	0.14307	N	0.327954	T	0.23171	0.0560	L	0.57536	1.79	0.09310	N	1	D;P	0.54207	0.965;0.868	P;B	0.45913	0.497;0.243	T	0.07065	-1.0792	10	0.28530	T	0.3	-5.6654	9.0101	0.36135	0.1114:0.0:0.8886:0.0	.	443;545	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	F	545;443	ENSP00000280665:L545F;ENSP00000380358:L443F	ENSP00000280665:L545F	L	-	1	0	DCP1B	1928653	0.007000	0.16637	0.007000	0.13788	0.003000	0.03518	1.462000	0.35266	2.200000	0.70718	0.655000	0.94253	CTC		PASS	0.647	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		6	15	6	15	---	---	---	---
NANOG	79923	broad.mit.edu	37	12	7942325	7942325	+	Nonsense_Mutation	SNP	C	C	T	rs140243232	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:7942325C>T	ENST00000229307.4	+	1	334	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	NANOG_ENST00000526286.1_Nonsense_Mutation_p.Q39*	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	39					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q39*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCCATCCTTGCAAATGTCTTC	0.453																																						uc009zfy.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(115-117)CAA>TAA		Nanog homeobox							115.0	108.0	110.0					12																	7942325		2203	4300	6503	SO:0001587	stop_gained	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7942325C>T	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.115C>T	12.37:g.7942325C>T	ENSP00000229307:p.Gln39*						p.Q39*	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	331	+			39					D3DUU4|Q2TTG0|Q6JZS5	Nonsense_Mutation	SNP	ENST00000229307.4	37	c.115C>T	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	18.32	3.597724	0.66332	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	.	.	.	3.24	3.24	0.37175	.	0.313134	0.26688	N	0.023005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.4155	10.2533	0.43381	0.0:1.0:0.0:0.0	.	.	.	.	X	15;39;39	.	ENSP00000229307:Q39X	Q	+	1	0	NANOG	7833592	0.029000	0.19370	0.214000	0.23707	0.163000	0.22366	2.274000	0.43390	2.109000	0.64355	0.462000	0.41574	CAA		PASS	0.453	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		19	114	19	114	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8082312	8082312	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:8082312G>T	ENST00000075120.7	-	6	1069	c.829C>A	c.(829-831)Cag>Aag	p.Q277K		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	277					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.Q277K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGAGAGAGCTGGAGCACAATG	0.478																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(829-831)CAG>AAG		solute carrier family 2 (facilitated glucose							85.0	65.0	72.0					12																	8082312		2203	4297	6500	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8082312G>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.829C>A	12.37:g.8082312G>T	ENSP00000075120:p.Gln277Lys					SLC2A3_uc001qts.2_3'UTR	p.Q277K	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	6	1091	-			277			Defines substrate specificity (By similarity).|Helical; Name=7; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.829C>A	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556170	0.86231	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.80824	-1.42	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92737	0.7691	H	0.96633	3.855	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.94208	0.7456	10	0.51188	T	0.08	.	14.8775	0.70504	0.0:0.0:1.0:0.0	.	277	P11169	GTR3_HUMAN	K	277;203	ENSP00000075120:Q277K	ENSP00000075120:Q277K	Q	-	1	0	SLC2A3	7973579	1.000000	0.71417	0.974000	0.42286	0.973000	0.67179	8.715000	0.91416	2.439000	0.82584	0.462000	0.41574	CAG		PASS	0.478	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		4	28	4	28	---	---	---	---
DUSP16	80824	broad.mit.edu	37	12	12630882	12630882	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:12630882C>T	ENST00000228862.2	-	7	1514	c.883G>A	c.(883-885)Gag>Aag	p.E295K	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	295					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E295K(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATCTTCTTCTCATAGTCCAGG	0.438																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)GAG>AAG		dual specificity phosphatase 16							72.0	79.0	77.0					12																	12630882		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630882C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.883G>A	12.37:g.12630882C>T	ENSP00000228862:p.Glu295Lys					DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.E147K	p.E295K	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1515	-		Prostate(47;0.0687)	295					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.883G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271695	0.95429	.	.	ENSG00000111266	ENST00000228862	D	0.87103	-2.21	5.58	5.58	0.84498	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95526	0.8599	10	0.87932	D	0	.	19.5733	0.95430	0.0:1.0:0.0:0.0	.	295;295	Q9BY84;Q96N49	DUS16_HUMAN;.	K	295	ENSP00000228862:E295K	ENSP00000228862:E295K	E	-	1	0	DUSP16	12522149	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.770000	0.85390	2.618000	0.88619	0.563000	0.77884	GAG		PASS	0.438	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		26	99	26	99	---	---	---	---
PDE6H	5149	broad.mit.edu	37	12	15132142	15132142	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:15132142G>T	ENST00000266395.2	+	3	270	c.164G>T	c.(163-165)gGg>gTg	p.G55V		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	55					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)	p.G55V(1)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	GGAATGGAGGGGCTAGGAACA	0.413																																						uc001rcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(163-165)GGG>GTG		phosphodiesterase 6H							106.0	97.0	100.0					12																	15132142		2203	4300	6503	SO:0001583	missense	5149				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr12:15132142G>T		CCDS8672.1	12p13	2008-03-18					3.1.4.17	"""Phosphodiesterases"""	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.164G>T	12.37:g.15132142G>T	ENSP00000266395:p.Gly55Val						p.G55V	NM_006205	NP_006196	Q13956	CNCG_HUMAN			3	248	+			55					Q52LY7	Missense_Mutation	SNP	ENST00000266395.2	37	c.164G>T	CCDS8672.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408033	0.83340	.	.	ENSG00000139053	ENST00000266395	T	0.63096	-0.02	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	.	.	.	0.80722	D	1	D	0.58620	0.983	D	0.63283	0.913	T	0.79347	-0.1841	9	0.72032	D	0.01	.	16.4642	0.84073	0.0:0.0:1.0:0.0	.	55	Q13956	CNCG_HUMAN	V	55	ENSP00000266395:G55V	ENSP00000266395:G55V	G	+	2	0	PDE6H	15023409	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	9.131000	0.94446	2.827000	0.97445	0.650000	0.86243	GGG		PASS	0.413	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400880.1			10	21	10	21	---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16047010	16047010	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:16047010G>T	ENST00000419869.2	+	5	746	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C	STRAP_ENST00000025399.6_Missense_Mutation_p.G158C|STRAP_ENST00000538352.1_Missense_Mutation_p.G51C	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	145					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)	p.G145C(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TCATACTTCTGGTATAAAAAA	0.279																																						uc001rdc.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(433-435)GGT>TGT		serine/threonine kinase receptor associated							103.0	116.0	112.0					12																	16047010		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16047010G>T	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.433G>T	12.37:g.16047010G>T	ENSP00000392270:p.Gly145Cys					STRAP_uc010shw.1_Missense_Mutation_p.G158C|STRAP_uc001rdd.3_Missense_Mutation_p.G51C	p.G145C	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN			5	787	+		Hepatocellular(102;0.121)	145			WD 4.		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.433G>T	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221916	0.79464	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.61274	0.12;0.12;0.12	4.18	4.18	0.49190	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.051728	0.85682	D	0.000000	T	0.62356	0.2421	L	0.39566	1.225	0.48975	D	0.999739	P;P	0.47677	0.899;0.814	P;P	0.53450	0.726;0.705	T	0.65356	-0.6188	10	0.51188	T	0.08	-22.0327	17.0353	0.86473	0.0:0.0:1.0:0.0	.	158;145	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	C	51;158;145	ENSP00000439761:G51C;ENSP00000025399:G158C;ENSP00000392270:G145C	ENSP00000025399:G158C	G	+	1	0	STRAP	15938277	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.231000	0.78106	2.319000	0.78375	0.650000	0.86243	GGT		PASS	0.279	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		5	86	5	86	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19413942	19413942	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:19413942C>A	ENST00000299275.6	+	7	603	c.597C>A	c.(595-597)ctC>ctA	p.L199L	PLEKHA5_ENST00000538714.1_Silent_p.L199L|PLEKHA5_ENST00000429027.2_Silent_p.L199L|PLEKHA5_ENST00000317589.4_Silent_p.L199L|PLEKHA5_ENST00000424268.1_Silent_p.L91L|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000543806.1_Silent_p.L91L|PLEKHA5_ENST00000359180.3_Silent_p.L199L|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Silent_p.L199L|PLEKHA5_ENST00000355397.3_Silent_p.L199L	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	199	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.L199L(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACCTTTGCCTCTTTTATTATA	0.303																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(595-597)CTC>CTA		pleckstrin homology domain containing, family A							209.0	211.0	211.0					12																	19413942		2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19413942C>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.597C>A	12.37:g.19413942C>A						PLEKHA5_uc010sie.1_Silent_p.L199L|PLEKHA5_uc001rea.2_Silent_p.L199L|PLEKHA5_uc009zin.2_Intron|PLEKHA5_uc010sif.1_Silent_p.L91L|PLEKHA5_uc010sig.1_Silent_p.L91L|PLEKHA5_uc010sih.1_Silent_p.L91L	p.L199L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			7	683	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		199			PH.		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.597C>A	CCDS8682.1																																																																																				PASS	0.303	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		7	192	7	192	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32138194	32138194	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:32138194G>T	ENST00000312561.4	+	4	4719	c.4305G>T	c.(4303-4305)gcG>gcT	p.A1435A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1435								p.A1435A(1)									ACACGAAAGCGAGTTCATCTA	0.353																																						uc001rks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(4303-4305)GCG>GCT		hypothetical protein LOC55196							75.0	84.0	81.0					12																	32138194		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32138194G>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.4305G>T	12.37:g.32138194G>T						C12orf35_uc001rkt.2_5'Flank	p.A1435A	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4719	+	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)		1435					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.4305G>T	CCDS8725.2																																																																																				PASS	0.353	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	120	5	120	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40692163	40692163	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:40692163C>A	ENST00000298910.7	+	24	3273	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	LRRK2_ENST00000343742.2_Missense_Mutation_p.P1072H	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1072					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.P1072H(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACATTGGACCCTCAGTGGTT	0.368																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3214-3216)CCC>CAC		leucine-rich repeat kinase 2							144.0	136.0	138.0					12																	40692163		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40692163C>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3215C>A	12.37:g.40692163C>A	ENSP00000298910:p.Pro1072His					LRRK2_uc001rmh.1_Missense_Mutation_p.P694H|LRRK2_uc009zjw.2_5'UTR	p.P1072H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			24	3336	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1072			LRR 4.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3215C>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598659	0.87055	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.23950	2.25;1.88	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.986	T	0.50783	-0.8787	10	0.49607	T	0.09	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	1072;1072	E9PC85;Q5S007	.;LRRK2_HUMAN	H	1072	ENSP00000341930:P1072H;ENSP00000298910:P1072H	ENSP00000298910:P1072H	P	+	2	0	LRRK2	38978430	1.000000	0.71417	0.632000	0.29296	0.997000	0.91878	5.333000	0.65917	2.761000	0.94854	0.655000	0.94253	CCC		PASS	0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		9	45	9	45	---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44338016	44338016	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:44338016A>T	ENST00000266534.3	+	3	408	c.281A>T	c.(280-282)cAg>cTg	p.Q94L	TMEM117_ENST00000536799.1_Silent_p.S23S|TMEM117_ENST00000551577.1_Missense_Mutation_p.Q94L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	94						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q94L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATTTCAGGTCAGTTGCTCCGA	0.299																																						uc001rod.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)CAG>CTG		transmembrane protein 117							109.0	101.0	104.0					12																	44338016		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44338016A>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.281A>T	12.37:g.44338016A>T	ENSP00000266534:p.Gln94Leu					TMEM117_uc001roe.2_Silent_p.S23S|TMEM117_uc009zkc.2_Missense_Mutation_p.Q94L	p.Q94L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	3	347	+	Lung SC(27;0.192)		94						Missense_Mutation	SNP	ENST00000266534.3	37	c.281A>T	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772739	0.49680	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.44482	0.92;0.92	5.61	4.47	0.54385	.	0.199301	0.45361	D	0.000372	T	0.26048	0.0635	N	0.14661	0.345	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.16289	0.015;0.008	T	0.04593	-1.0940	10	0.48119	T	0.1	-11.1418	10.202	0.43089	0.9252:0.0:0.0748:0.0	.	94;94	F8VS00;Q9H0C3	.;TM117_HUMAN	L	94	ENSP00000448595:Q94L;ENSP00000266534:Q94L	ENSP00000266534:Q94L	Q	+	2	0	TMEM117	42624283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.932000	0.56537	1.070000	0.40811	0.533000	0.62120	CAG		PASS	0.299	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		16	21	16	21	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320689	46320689	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:46320689C>A	ENST00000369367.3	-	11	3028	c.2795G>T	c.(2794-2796)tGg>tTg	p.W932L	SCAF11_ENST00000465950.1_Missense_Mutation_p.W617L|SCAF11_ENST00000419565.2_Missense_Mutation_p.W932L|SCAF11_ENST00000549162.1_Missense_Mutation_p.W740L|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	932	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W932L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGACCTAGACCACTTTCTGGT	0.453																																						uc001rox.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2794-2796)TGG>TTG		splicing factor, arginine/serine-rich 2,							138.0	141.0	140.0					12																	46320689		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320689C>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2795G>T	12.37:g.46320689C>A	ENSP00000358374:p.Trp932Leu					SFRS2IP_uc001row.2_Missense_Mutation_p.W617L|SFRS2IP_uc001roy.1_Missense_Mutation_p.W1006L	p.W932L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	3082	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	932			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2795G>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337112	0.41398	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.58210	1.34;2.07;1.33;2.07;0.35	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.67325	0.2881	L	0.60455	1.87	0.50171	D	0.999859	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.57429	-0.7813	10	0.08179	T	0.78	-7.7255	19.0599	0.93085	0.0:1.0:0.0:0.0	.	740;932	F8VXG7;Q99590	.;SCAFB_HUMAN	L	617;932;740;932;872	ENSP00000449812:W617L;ENSP00000358374:W932L;ENSP00000448864:W740L;ENSP00000413036:W932L;ENSP00000446746:W872L	ENSP00000358374:W932L	W	-	2	0	SCAF11	44606956	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.911000	0.63328	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.453	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		6	92	6	92	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46321720	46321720	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:46321720G>T	ENST00000369367.3	-	11	1997	c.1764C>A	c.(1762-1764)tcC>tcA	p.S588S	SCAF11_ENST00000465950.1_Silent_p.S273S|SCAF11_ENST00000419565.2_Silent_p.S588S|SCAF11_ENST00000549162.1_Silent_p.S396S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	588					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S588S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTCTACTAGGGAACTCTCTG	0.368																																						uc001rox.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1762-1764)TCC>TCA		splicing factor, arginine/serine-rich 2,							65.0	70.0	68.0					12																	46321720		2201	4297	6498	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321720G>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1764C>A	12.37:g.46321720G>T						SFRS2IP_uc001row.2_Silent_p.S273S|SFRS2IP_uc001roy.1_Silent_p.S662S	p.S588S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	2051	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	588					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.1764C>A	CCDS8748.2																																																																																				PASS	0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		6	65	6	65	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49442950	49442950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:49442950C>A	ENST00000301067.7	-	12	3957	c.3958G>T	c.(3958-3960)Gga>Tga	p.G1320*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1320	Arg-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1047*(1)|p.G1320*(1)									CCACGTCCTCCATGGGCTCCT	0.572																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3958-3960)GGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							48.0	51.0	50.0					12																	49442950		1977	4144	6121	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49442950C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3958G>T	12.37:g.49442950C>A	ENSP00000301067:p.Gly1320*	HNSCC(34;0.089)					p.G1320*	NM_003482	NP_003473	O14686	MLL2_HUMAN			12	3958	-			1320			Arg-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3958G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	43	10.315752	0.99381	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.78	4.89	0.63831	.	0.000000	0.34531	N	0.003893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.1927	0.59719	0.0:0.9223:0.0:0.0777	.	.	.	.	X	1320	.	ENSP00000301067:G1320X	G	-	1	0	MLL2	47729217	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.869000	0.69613	2.740000	0.93945	0.313000	0.20887	GGA		PASS	0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	7	8	7	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53662832	53662832	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:53662832G>T	ENST00000257934.4	+	3	197	c.106G>T	c.(106-108)Ggt>Tgt	p.G36C	ESPL1_ENST00000552462.1_Missense_Mutation_p.G36C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	36					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.G36C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCTCCAGCTGGTTTTCCCAG	0.502																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(106-108)GGT>TGT		separase							49.0	49.0	49.0					12																	53662832		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53662832G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.106G>T	12.37:g.53662832G>T	ENSP00000257934:p.Gly36Cys					ESPL1_uc001scj.2_5'UTR	p.G36C	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			3	197	+			36						Missense_Mutation	SNP	ENST00000257934.4	37	c.106G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923561	0.52653	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.12147	2.71;2.71	4.78	2.95	0.34219	.	0.343461	0.26983	N	0.021509	T	0.16385	0.0394	L	0.51422	1.61	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.05818	-1.0862	10	0.72032	D	0.01	.	9.0193	0.36191	0.1859:0.0:0.8141:0.0	.	36	Q14674	ESPL1_HUMAN	C	36	ENSP00000257934:G36C;ENSP00000449831:G36C	ENSP00000257934:G36C	G	+	1	0	ESPL1	51949099	0.021000	0.18746	0.038000	0.18304	0.966000	0.64601	0.859000	0.27858	1.373000	0.46208	0.563000	0.77884	GGT		PASS	0.502	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		4	23	4	23	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794584	55794584	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:55794584C>T	ENST00000379665.2	+	1	371	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S91F(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACAACCATTTCCTATAATGCT	0.353																																						uc010spl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TCC>TTC		olfactory receptor, family 6, subfamily C,							84.0	89.0	87.0					12																	55794584		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794584C>T		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.272C>T	12.37:g.55794584C>T	ENSP00000368986:p.Ser91Phe						p.S91F	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	272	+			91			Extracellular (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.272C>T	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313185	0.40895	.	.	ENSG00000205328	ENST00000379665	T	0.00745	5.75	3.56	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35555	U	0.003136	T	0.02727	0.0082	H	0.96015	3.755	0.27784	N	0.943053	B	0.33413	0.411	B	0.33690	0.168	T	0.06445	-1.0826	10	0.87932	D	0	.	13.3043	0.60342	0.0:0.7014:0.2986:0.0	.	91	A6NJZ3	O6C65_HUMAN	F	91	ENSP00000368986:S91F	ENSP00000368986:S91F	S	+	2	0	OR6C65	54080851	0.006000	0.16342	0.932000	0.37286	0.963000	0.63663	1.939000	0.40213	0.807000	0.34208	0.424000	0.28305	TCC		PASS	0.353	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			21	32	21	32	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78444760	78444760	+	Silent	SNP	G	G	C	rs35997153	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:78444760G>C	ENST00000397909.2	+	11	2522	c.2349G>C	c.(2347-2349)acG>acC	p.T783T	NAV3_ENST00000266692.7_Silent_p.T783T|NAV3_ENST00000228327.6_Silent_p.T783T|NAV3_ENST00000536525.2_Silent_p.T783T|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	783						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T783T(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTATACCACGCCTCTCCGTC	0.552										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2347-2349)ACG>ACC		neuron navigator 3							65.0	66.0	66.0					12																	78444760		2091	4214	6305	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444760G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2349G>C	12.37:g.78444760G>C		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.T783T|NAV3_uc010sub.1_Silent_p.T283T	p.T783T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2522	+			783					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.2349G>C																																																																																					PASS	0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		5	19	5	19	---	---	---	---
PLEKHG7	440107	broad.mit.edu	37	12	93147929	93147929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:93147929C>T	ENST00000344636.3	+	6	563	c.379C>T	c.(379-381)Cag>Tag	p.Q127*		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	127	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q127*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GGCCCCACTACAGAGGCTCAC	0.493																																						uc001tcj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(379-381)CAG>TAG		pleckstrin homology domain containing, family G							101.0	90.0	94.0					12																	93147929		2203	4300	6503	SO:0001587	stop_gained	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93147929C>T	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.379C>T	12.37:g.93147929C>T	ENSP00000344961:p.Gln127*						p.Q127*	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			6	609	+			127			DH.		B2RNR7	Nonsense_Mutation	SNP	ENST00000344636.3	37	c.379C>T	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	37	5.985592	0.97173	.	.	ENSG00000187510	ENST00000344636	.	.	.	5.32	4.42	0.53409	.	0.209299	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.9574	15.6704	0.77270	0.0:0.8621:0.1378:0.0	.	.	.	.	X	127	.	ENSP00000344961:Q127X	Q	+	1	0	PLEKHG7	91672060	0.996000	0.38824	0.835000	0.33067	0.719000	0.41307	3.445000	0.52921	1.224000	0.43551	0.491000	0.48974	CAG		PASS	0.493	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		19	30	19	30	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100806558	100806558	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:100806558G>T	ENST00000323346.5	+	10	1510	c.1197G>T	c.(1195-1197)atG>atT	p.M399I	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.M349I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	399					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.M399I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GTTTTGGCATGGAGGCAACCT	0.408																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1195-1197)ATG>ATT		solute carrier family 17 (sodium-dependent							228.0	202.0	211.0					12																	100806558		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100806558G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1197G>T	12.37:g.100806558G>T	ENSP00000316909:p.Met399Ile					SLC17A8_uc009ztx.2_Missense_Mutation_p.M349I	p.M399I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			10	1510	+			399			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1197G>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150192	0.78001	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.56611	0.56;0.45	6.03	6.03	0.97812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.191206	0.64402	D	0.000004	T	0.45276	0.1334	L	0.28694	0.88	0.80722	D	1	B;P	0.51057	0.389;0.941	B;P	0.45712	0.196;0.491	T	0.35051	-0.9804	10	0.02654	T	1	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	399;349	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	399;349	ENSP00000316909:M399I;ENSP00000376715:M349I	ENSP00000316909:M399I	M	+	3	0	SLC17A8	99330689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	ATG		PASS	0.408	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		5	67	5	67	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101488070	101488070	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:101488070G>T	ENST00000392977.3	+	18	1948	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*	ANO4_ENST00000550015.1_Splice_Site_p.E100*|ANO4_ENST00000299222.9_Splice_Site_p.E100*|ANO4_ENST00000392979.3_Splice_Site_p.E545*			Q32M45	ANO4_HUMAN	anoctamin 4	580					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E545*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACGAATTTAGGTGAGTGGAA	0.338										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1738-1740)GAA>TAA		anoctamin 4							97.0	97.0	97.0					12																	101488070		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101488070G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1738+1G>T	12.37:g.101488070G>T		HNSCC(74;0.22)				ANO4_uc001thw.2_Nonsense_Mutation_p.E545*|ANO4_uc001thx.2_Nonsense_Mutation_p.E580*|ANO4_uc001thy.2_Nonsense_Mutation_p.E100*	p.E580*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			18	2310	+			580			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Nonsense_Mutation	SNP	ENST00000392977.3	37	c.1738G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.296050	0.97449	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2671	0.93993	0.0:0.0:1.0:0.0	.	.	.	.	X	545;100;580;100	.	ENSP00000299222:E100X	E	+	1	0	ANO4	100012201	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.426000	0.97469	2.788000	0.95919	0.650000	0.86243	GAA		PASS	0.338	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Nonsense_Mutation	6	38	6	38	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101685795	101685795	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:101685795G>T	ENST00000261637.4	+	10	1260	c.1086G>T	c.(1084-1086)tgG>tgT	p.W362C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	362					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.W362C(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATCTTGCTGGGAGACCCTCT	0.403																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1084-1086)TGG>TGT		down-regulated in metastasis							179.0	177.0	178.0					12																	101685795		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101685795G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1086G>T	12.37:g.101685795G>T	ENSP00000261637:p.Trp362Cys						p.W362C	NM_014503	NP_055318	O75691	UTP20_HUMAN			10	1242	+			362					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1086G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	1.187	-0.636540	0.03557	.	.	ENSG00000120800	ENST00000261637	T	0.64260	-0.09	5.91	-1.01	0.10169	Armadillo-type fold (1);	0.602886	0.18011	N	0.154569	T	0.21962	0.0529	N	0.00707	-1.245	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.20605	-1.0270	10	0.37606	T	0.19	0.0247	2.8713	0.05617	0.1263:0.2026:0.3888:0.2824	.	362	O75691	UTP20_HUMAN	C	362	ENSP00000261637:W362C	ENSP00000261637:W362C	W	+	3	0	UTP20	100209926	0.009000	0.17119	0.008000	0.14137	0.001000	0.01503	-0.089000	0.11180	-0.104000	0.12154	-0.795000	0.03280	TGG		PASS	0.403	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	141	7	141	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101763508	101763508	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:101763508G>T	ENST00000261637.4	+	49	6568	c.6394G>T	c.(6394-6396)Ggt>Tgt	p.G2132C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2132					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.G2132C(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTGATCACAGGTGCTTTACA	0.448																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(6394-6396)GGT>TGT		down-regulated in metastasis							110.0	111.0	111.0					12																	101763508		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101763508G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6394G>T	12.37:g.101763508G>T	ENSP00000261637:p.Gly2132Cys						p.G2132C	NM_014503	NP_055318	O75691	UTP20_HUMAN			49	6550	+			2132					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6394G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393151	0.25118	.	.	ENSG00000120800	ENST00000261637	T	0.65178	-0.14	5.75	4.86	0.63082	Armadillo-type fold (1);	0.102686	0.64402	D	0.000002	T	0.55737	0.1939	L	0.48362	1.52	0.46521	D	0.999082	B	0.21753	0.06	B	0.18263	0.021	T	0.52480	-0.8570	10	0.38643	T	0.18	-13.4901	14.4719	0.67521	0.0713:0.0:0.9287:0.0	.	2132	O75691	UTP20_HUMAN	C	2132	ENSP00000261637:G2132C	ENSP00000261637:G2132C	G	+	1	0	UTP20	100287639	1.000000	0.71417	0.992000	0.48379	0.137000	0.21094	5.512000	0.67030	1.443000	0.47586	0.650000	0.86243	GGT		PASS	0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		6	74	6	74	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107103163	107103163	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:107103163G>A	ENST00000392842.1	+	9	1303	c.889G>A	c.(889-891)Gct>Act	p.A297T	RFX4_ENST00000229387.5_Missense_Mutation_p.A203T|RFX4_ENST00000357881.4_Missense_Mutation_p.A306T|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	297					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A203T(1)|p.A297T(1)|p.A306T(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCTAAAAGTGGCTCTCCACGA	0.418																																						uc001tlr.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)	1						c.(889-891)GCT>ACT		regulatory factor X4 isoform c							98.0	86.0	90.0					12																	107103163		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107103163G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.889G>A	12.37:g.107103163G>A	ENSP00000376585:p.Ala297Thr					RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Missense_Mutation_p.A306T|RFX4_uc001tlt.2_Missense_Mutation_p.A306T|RFX4_uc001tlv.2_Missense_Mutation_p.A203T	p.A297T	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			9	955	+			297					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.889G>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	G	36	5.924637	0.97110	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.91237	-0.44;-0.44;-2.81;0.5	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95736	0.8613	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.996;0.993	D;D;D;D	0.87578	0.998;0.987;0.987;0.956	D	0.95755	0.8795	10	0.87932	D	0	-12.0206	19.8155	0.96566	0.0:0.0:1.0:0.0	.	203;306;306;297	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	T	297;306;306;242;203	ENSP00000376585:A297T;ENSP00000350552:A306T;ENSP00000448694:A242T;ENSP00000229387:A203T	ENSP00000229387:A203T	A	+	1	0	RFX4	105627293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.682000	0.91365	0.650000	0.86243	GCT		PASS	0.418	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		8	35	8	35	---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108589946	108589946	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:108589946C>G	ENST00000332082.4	+	3	1155	c.337C>G	c.(337-339)Cga>Gga	p.R113G	WSCD2_ENST00000549903.1_Missense_Mutation_p.R113G|WSCD2_ENST00000547525.1_Missense_Mutation_p.R113G|WSCD2_ENST00000261400.3_Missense_Mutation_p.R113G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	113						integral component of membrane (GO:0016021)		p.R113G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCCTGGAGCCGAGCCCTCAA	0.597																																						uc001tms.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(337-339)CGA>GGA		WSC domain containing 2							42.0	45.0	44.0					12																	108589946		1987	4164	6151	SO:0001583	missense	9671					integral to membrane		g.chr12:108589946C>G		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.337C>G	12.37:g.108589946C>G	ENSP00000331933:p.Arg113Gly					WSCD2_uc001tmt.2_Missense_Mutation_p.R113G	p.R113G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	1081	+			113					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.337C>G	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.739149	0.30774	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.6	1.55	0.23275	.	0.138485	0.48286	D	0.000194	T	0.25754	0.0627	M	0.62723	1.935	0.41246	D	0.986676	P	0.47034	0.889	B	0.40101	0.319	T	0.08006	-1.0743	10	0.21014	T	0.42	-11.1774	8.5821	0.33634	0.5179:0.4123:0.0:0.0698	.	113	Q2TBF2	WSCD2_HUMAN	G	113	ENSP00000448047:R113G;ENSP00000261400:R113G;ENSP00000331933:R113G;ENSP00000447272:R113G	ENSP00000261400:R113G	R	+	1	2	WSCD2	107114076	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	0.842000	0.27627	0.007000	0.14760	0.655000	0.94253	CGA		PASS	0.597	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		8	28	8	28	---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109210857	109210857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:109210857C>A	ENST00000326495.5	-	5	451	c.358G>T	c.(358-360)Gag>Tag	p.E120*	SSH1_ENST00000551165.1_Nonsense_Mutation_p.E120*|SSH1_ENST00000326470.5_Nonsense_Mutation_p.E131*|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	120					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E131*(1)|p.E120*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATATTCTCCTCGGTGTCCTGG	0.602																																						uc001tnm.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(358-360)GAG>TAG		slingshot 1 isoform 1							197.0	163.0	175.0					12																	109210857		2203	4300	6503	SO:0001587	stop_gained	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109210857C>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.358G>T	12.37:g.109210857C>A	ENSP00000315713:p.Glu120*					SSH1_uc010sxg.1_Nonsense_Mutation_p.E131*|SSH1_uc001tnn.3_Nonsense_Mutation_p.E120*|SSH1_uc001tno.1_Nonsense_Mutation_p.E47*	p.E120*	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			5	445	-			120					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Nonsense_Mutation	SNP	ENST00000326495.5	37	c.358G>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	39	7.332319	0.98217	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470;ENST00000303438;ENST00000546697	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-39.0743	19.1131	0.93326	0.0:1.0:0.0:0.0	.	.	.	.	X	120;120;131;47;104	.	ENSP00000307610:E47X	E	-	1	0	SSH1	107734986	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.770000	0.85390	2.832000	0.97577	0.655000	0.94253	GAG		PASS	0.602	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	106	6	106	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109962291	109962291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:109962291G>T	ENST00000342494.3	+	23	3146	c.2551G>T	c.(2551-2553)Gag>Tag	p.E851*	UBE3B_ENST00000434735.2_Nonsense_Mutation_p.E851*	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	851	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E851*(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTCTTACGACGAGGACGTCAT	0.547																																						uc001top.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)	4						c.(2551-2553)GAG>TAG		ubiquitin protein ligase E3B							144.0	97.0	113.0					12																	109962291		2203	4300	6503	SO:0001587	stop_gained	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109962291G>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2551G>T	12.37:g.109962291G>T	ENSP00000340596:p.Glu851*					UBE3B_uc001toq.2_Nonsense_Mutation_p.E851*|UBE3B_uc001tos.2_Nonsense_Mutation_p.E278*|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Nonsense_Mutation_p.E851*	p.E851*	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			23	3154	+			851			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Nonsense_Mutation	SNP	ENST00000342494.3	37	c.2551G>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	49	15.756398	0.99844	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000538070	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-30.6159	17.6748	0.88227	0.0:0.0:1.0:0.0	.	.	.	.	X	851;851;851;146	.	ENSP00000340596:E851X	E	+	1	0	UBE3B	108446674	1.000000	0.71417	0.938000	0.37757	0.458000	0.32498	9.172000	0.94808	2.657000	0.90304	0.491000	0.48974	GAG		PASS	0.547	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		17	20	17	20	---	---	---	---
PXN	5829	broad.mit.edu	37	12	120653417	120653417	+	Silent	SNP	G	G	A	rs188662174	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:120653417G>A	ENST00000228307.7	-	7	1020	c.879C>T	c.(877-879)gcC>gcT	p.A293A	PXN_ENST00000538144.1_Intron|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000397506.3_Silent_p.A57A|PXN_ENST00000536957.1_Silent_p.A291A|PXN_ENST00000424649.2_Intron|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	293					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A293A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGCCAGCCGGCCGCCCAGC	0.622													G|||	4	0.000798722	0.0	0.0014	5008	,	,		13130	0.0		0.003	False		,,,				2504	0.0					uc001txt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(877-879)GCC>GCT		paxillin isoform 1		G	,,	0,3136		0,0,1568	32.0	40.0	37.0		879,,	-7.9	0.0	12		37	5,7151		0,5,3573	no	coding-synonymous,intron,intron	PXN	NM_001080855.2,NM_002859.3,NM_025157.4	,,	0,5,5141	AA,AG,GG		0.0699,0.0,0.0486	,,	293/592,,	120653417	5,10287	1568	3578	5146	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120653417G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.879C>T	12.37:g.120653417G>A						PXN_uc001txu.2_Silent_p.A57A|PXN_uc001txv.2_Intron|PXN_uc001txx.2_Intron|PXN_uc001txy.2_Intron|PXN_uc001txz.2_RNA	p.A293A	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			7	1010	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		293					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.879C>T	CCDS44997.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	0.234	-1.018914	0.02078	0.0	6.99E-4	ENSG00000089159	ENST00000550795	.	.	.	3.96	-7.92	0.01160	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.21355	N	0.999713	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	.	9.5242	0.39154	0.6353:0.0:0.2648:0.0999	.	.	.	.	L	42	.	.	P	-	2	0	PXN	119137800	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-1.002000	0.03686	-2.423000	0.00562	-1.685000	0.00733	CCG		PASS	0.622	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		9	13	9	13	---	---	---	---
P2RX7	5027	broad.mit.edu	37	12	121615214	121615214	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:121615214A>T	ENST00000546057.1	+	11	1296	c.1153A>T	c.(1153-1155)Agg>Tgg	p.R385W	P2RX7_ENST00000328963.5_Missense_Mutation_p.R215W|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_Missense_Mutation_p.R96W|P2RX7_ENST00000535250.1_Missense_Mutation_p.R295W	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	385					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)	p.R385W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATACTACTACAGGAAGAAGTG	0.507																																						uc001tzm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|breast(1)|skin(1)	5						c.(1153-1155)AGG>TGG		purinergic receptor P2X7							112.0	100.0	104.0					12																	121615214		2203	4300	6503	SO:0001583	missense	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121615214A>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1153A>T	12.37:g.121615214A>T	ENSP00000442349:p.Arg385Trp					P2RX7_uc001tzn.2_Missense_Mutation_p.R295W|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Missense_Mutation_p.R96W|P2RX7_uc001tzq.2_Missense_Mutation_p.R215W	p.R385W	NM_002562	NP_002553	Q99572	P2RX7_HUMAN			11	1249	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		385					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	c.1153A>T	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283086	0.80803	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	5.6	0.0803	0.14420	.	0.572244	0.16105	N	0.229347	T	0.14874	0.0359	M	0.75264	2.295	0.27029	N	0.964288	D;D;D;D	0.63046	0.988;0.988;0.978;0.992	P;P;P;D	0.65323	0.842;0.898;0.898;0.934	T	0.02885	-1.1098	10	0.87932	D	0	.	7.498	0.27500	0.5098:0.4142:0.0759:0.0	.	215;96;295;385	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	W	385;215;295;96	ENSP00000442349:R385W;ENSP00000330696:R215W;ENSP00000442572:R295W;ENSP00000437471:R96W	ENSP00000330696:R215W	R	+	1	2	P2RX7	120099597	0.057000	0.20700	0.796000	0.32109	0.959000	0.62525	0.325000	0.19628	0.036000	0.15547	-0.438000	0.05819	AGG		PASS	0.507	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		22	22	22	22	---	---	---	---
WDR66	144406	broad.mit.edu	37	12	122437833	122437833	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr12:122437833G>C	ENST00000288912.4	+	20	4072	c.3218G>C	c.(3217-3219)aGa>aCa	p.R1073T		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1073							calcium ion binding (GO:0005509)	p.R1073T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GACTTCCTGAGACTGCTCGTT	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3217-3219)AGA>ACA		WD repeat domain 66							91.0	86.0	88.0					12																	122437833		1908	4132	6040	SO:0001583	missense	144406						calcium ion binding	g.chr12:122437833G>C	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3218G>C	12.37:g.122437833G>C	ENSP00000288912:p.Arg1073Thr						p.R1073T	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	20	3360	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		1073					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.3218G>C	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	6.798	0.516326	0.12944	.	.	ENSG00000158023	ENST00000288912	T	0.79749	-1.3	5.31	-2.67	0.06059	.	0.795468	0.11993	N	0.509595	T	0.57725	0.2073	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.39231	-0.9624	10	0.19147	T	0.46	.	7.0357	0.24993	0.5107:0.0:0.3796:0.1097	.	1073	Q8TBY9	WDR66_HUMAN	T	1073	ENSP00000288912:R1073T	ENSP00000288912:R1073T	R	+	2	0	WDR66	120922216	0.000000	0.05858	0.021000	0.16686	0.752000	0.42762	0.197000	0.17197	-0.820000	0.04318	-1.099000	0.02127	AGA		PASS	0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		12	49	12	49	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29008091	29008091	+	Splice_Site	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr13:29008091G>C	ENST00000282397.4	-	6	929	c.678C>G	c.(676-678)acC>acG	p.T226T	FLT1_ENST00000541932.1_Splice_Site_p.T226T|FLT1_ENST00000539099.1_Splice_Site_p.T226T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	226					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.T226T(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATTGTATTGGCTGCAAGCA	0.378																																						uc001usb.3																			2	Substitution - coding silent(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(676-678)ACC>ACG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						119.0	121.0	120.0					13																	29008091		2203	4300	6503	SO:0001630	splice_region_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29008091G>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.677-1C>G	13.37:g.29008091G>C						FLT1_uc010aar.1_Silent_p.T226T|FLT1_uc001usc.3_Silent_p.T226T|FLT1_uc010tdp.1_Silent_p.T226T	p.T226T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	6	963	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	226			Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.678C>G	CCDS9330.1																																																																																				PASS	0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		Silent	25	36	25	36	---	---	---	---
SUPT20H	55578	broad.mit.edu	37	13	37593482	37593482	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr13:37593482G>T	ENST00000350612.6	-	22	2089	c.1869C>A	c.(1867-1869)ctC>ctA	p.L623L	SUPT20H_ENST00000356185.3_Silent_p.L624L|SUPT20H_ENST00000360252.4_Silent_p.L624L|SUPT20H_ENST00000475892.1_Silent_p.L702L|SUPT20H_ENST00000464744.1_Silent_p.L624L	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	623					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.L623L(1)									GGTTTACCTGGAGTAGATTTA	0.294																																						uc001uwg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1867-1869)CTC>CTA		family with sequence similarity 48, member A							79.0	90.0	86.0					13																	37593482		2203	4298	6501	SO:0001819	synonymous_variant	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37593482G>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1869C>A	13.37:g.37593482G>T						FAM48A_uc010abt.2_Silent_p.L624L|FAM48A_uc001uwh.2_Silent_p.L624L|FAM48A_uc001uwi.2_Silent_p.L623L|FAM48A_uc001uwj.2_Silent_p.L624L|FAM48A_uc001uwk.2_Silent_p.L702L|FAM48A_uc001uwd.2_Silent_p.L110L|FAM48A_uc001uwe.2_Silent_p.L107L|FAM48A_uc001uwf.2_Silent_p.L201L	p.L623L	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	22	2117	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	623					E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.1869C>A	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812968	0.16537	.	.	ENSG00000102710	ENST00000469488	.	.	.	5.34	0.127	0.14727	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21827	-1.0234	4	.	.	.	-5.668	3.0545	0.06180	0.2308:0.4334:0.2225:0.1132	.	.	.	.	Y	178	.	.	S	-	2	0	FAM48A	36491482	0.980000	0.34600	0.997000	0.53966	0.981000	0.71138	-0.049000	0.11924	-0.033000	0.13736	0.585000	0.79938	TCC		PASS	0.294	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		5	38	5	38	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53419021	53419021	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr13:53419021G>A	ENST00000377942.3	-	3	3090	c.2887C>T	c.(2887-2889)Cgc>Tgc	p.R963C	PCDH8_ENST00000338862.4_Missense_Mutation_p.R866C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	963					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R963C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCCAGCAGCGGTCAGAGTGG	0.557																																					GBM(36;25 841 9273 49207)	uc001vhi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2887-2889)CGC>TGC		protocadherin 8 isoform 1 precursor							95.0	61.0	72.0					13																	53419021		2202	4300	6502	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419021G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2887C>T	13.37:g.53419021G>A	ENSP00000367177:p.Arg963Cys					PCDH8_uc001vhj.2_Missense_Mutation_p.R866C	p.R963C	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3090	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	963			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2887C>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547701	0.65311	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.59364	0.36;0.27	5.95	5.08	0.68730	.	0.000000	0.44902	D	0.000406	T	0.73410	0.3583	L	0.58810	1.83	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.76804	-0.2824	10	0.87932	D	0	.	17.0544	0.86529	0.0:0.1271:0.8729:0.0	.	866;963	O95206-2;O95206	.;PCDH8_HUMAN	C	963;866;489;806	ENSP00000367177:R963C;ENSP00000341350:R866C	ENSP00000341350:R866C	R	-	1	0	PCDH8	52317022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.502000	0.81614	1.471000	0.48121	0.563000	0.77884	CGC		PASS	0.557	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		7	14	7	14	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61987742	61987742	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr13:61987742C>T	ENST00000409186.1	-	5	2595	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	PCDH20_ENST00000409204.4_Missense_Mutation_p.G164S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	164	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.G137S(1)|p.G164S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAAACGCTGCCGCTCCACGCA	0.562																																						uc001vid.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(490-492)GGC>AGC		protocadherin 20							79.0	61.0	67.0					13																	61987742		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987742C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.490G>A	13.37:g.61987742C>T	ENSP00000386653:p.Gly164Ser					PCDH20_uc010thj.1_Missense_Mutation_p.G164S	p.G164S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	854	-		Breast(118;0.195)|Prostate(109;0.229)	137			Cadherin 1.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.490G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	c	14.10	2.433415	0.43224	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.54479	0.57;0.57	5.65	3.93	0.45458	.	0.303339	0.28146	N	0.016428	T	0.26846	0.0657	N	0.03608	-0.345	0.28273	N	0.924346	B	0.06786	0.001	B	0.06405	0.002	T	0.13361	-1.0512	10	0.35671	T	0.21	.	8.5535	0.33467	0.0:0.7681:0.0:0.2319	.	164	A8K1K9	.	S	164	ENSP00000387250:G164S;ENSP00000386653:G164S	ENSP00000386653:G164S	G	-	1	0	PCDH20	60885743	0.000000	0.05858	0.996000	0.52242	0.842000	0.47809	0.871000	0.28023	0.750000	0.32877	0.651000	0.88453	GGC		PASS	0.562	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		18	13	18	13	---	---	---	---
KLF5	688	broad.mit.edu	37	13	73636323	73636323	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr13:73636323C>A	ENST00000377687.4	+	2	1122	c.586C>A	c.(586-588)Cac>Aac	p.H196N	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.H105N	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	196					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.H196N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ATTCAGCTCACACCAGACCGC	0.532																																						uc001vje.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(586-588)CAC>AAC		Kruppel-like factor 5							67.0	70.0	69.0					13																	73636323		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636323C>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.586C>A	13.37:g.73636323C>A	ENSP00000366915:p.His196Asn					KLF5_uc001vjd.2_Missense_Mutation_p.H105N	p.H196N	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	910	+		Prostate(6;0.00187)|Breast(118;0.0735)	196					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.586C>A	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	4.340	0.062555	0.08388	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.06933	3.44;3.24	5.94	5.94	0.96194	.	0.297191	0.42821	D	0.000651	T	0.08044	0.0201	L	0.34521	1.04	0.47407	D	0.999411	B	0.21225	0.053	B	0.17722	0.019	T	0.14671	-1.0464	10	0.02654	T	1	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	196	Q13887	KLF5_HUMAN	N	105;196;176	ENSP00000440407:H105N;ENSP00000366915:H196N	ENSP00000366915:H196N	H	+	1	0	KLF5	72534324	0.713000	0.27926	0.991000	0.47740	0.994000	0.84299	1.941000	0.40233	2.816000	0.96949	0.561000	0.74099	CAC		PASS	0.532	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			18	25	18	25	---	---	---	---
HS6ST3	266722	broad.mit.edu	37	13	97485376	97485376	+	Missense_Mutation	SNP	A	A	T	rs202239358		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr13:97485376A>T	ENST00000376705.2	+	2	1364	c.1340A>T	c.(1339-1341)cAc>cTc	p.H447L		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	447					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.H447L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACAGGGACCACCAGTGGCCC	0.632																																						uc001vmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1339-1341)CAC>CTC		heparan sulfate 6-O-sulfotransferase 3							43.0	50.0	48.0					13																	97485376		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485376A>T	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1340A>T	13.37:g.97485376A>T	ENSP00000365895:p.His447Leu						p.H447L	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	1364	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		447			Lumenal (Potential).		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1340A>T	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.534112	0.27475	.	.	ENSG00000185352	ENST00000376705	D	0.82255	-1.59	5.83	4.65	0.58169	.	0.338270	0.29609	N	0.011668	T	0.65196	0.2668	N	0.12182	0.205	0.31494	N	0.665624	B	0.06786	0.001	B	0.06405	0.002	T	0.59423	-0.7457	10	0.21540	T	0.41	-20.69	6.9474	0.24526	0.7976:0.0:0.0699:0.1324	.	447	Q8IZP7	H6ST3_HUMAN	L	447	ENSP00000365895:H447L	ENSP00000365895:H447L	H	+	2	0	HS6ST3	96283377	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	3.106000	0.50322	1.038000	0.40049	0.459000	0.35465	CAC		PASS	0.632	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		9	9	9	9	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553744	19553744	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:19553744A>T	ENST00000409832.3	+	1	380	c.328A>T	c.(328-330)Agg>Tgg	p.R110W		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	110								p.R110W(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTGCTGCAGGGGGAGCGG	0.592																																						uc001vuz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)AGG>TGG		POTE ankyrin domain family, member G							259.0	285.0	276.0					14																	19553744		2201	4297	6498	SO:0001583	missense	404785							g.chr14:19553744A>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.328A>T	14.37:g.19553744A>T	ENSP00000386971:p.Arg110Trp					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.R110W	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	380	+			110					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.328A>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	6.123	0.390922	0.11581	.	.	ENSG00000222036	ENST00000409832	T	0.29142	1.58	0.568	0.568	0.17333	.	.	.	.	.	T	0.21921	0.0528	L	0.38838	1.175	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.23762	-1.0179	8	0.54805	T	0.06	.	.	.	.	.	110	Q6S5H5	POTEG_HUMAN	W	110	ENSP00000386971:R110W	ENSP00000386971:R110W	R	+	1	2	POTEG	18623744	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.402000	0.01047	0.475000	0.27415	0.335000	0.21663	AGG		PASS	0.592	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		17	188	17	188	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295680	20295680	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:20295680C>A	ENST00000315947.1	+	1	73	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	OR4N2_ENST00000568211.1_Missense_Mutation_p.L25I	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L25I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATATTCAGCTCCTGGTCTT	0.438																																						uc010tkv.1																			1	Substitution - Missense(1)	p.L25L(1)	lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(73-75)CTC>ATC		olfactory receptor, family 4, subfamily N,							166.0	185.0	178.0					14																	20295680		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295680C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.73C>A	14.37:g.20295680C>A	ENSP00000319601:p.Leu25Ile						p.L25I	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	73	+	all_cancers(95;0.00108)		25			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.73C>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.467119	0.26335	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00272	8.36;8.36	4.41	1.28	0.21552	.	0.339113	0.21420	N	0.074828	T	0.00109	0.0003	N	0.16602	0.42	0.09310	N	0.999999	B	0.21753	0.06	B	0.21708	0.036	T	0.12502	-1.0545	10	0.24483	T	0.36	-12.7473	6.4412	0.21851	0.3152:0.5912:0.0:0.0936	.	25	Q8NGD1	OR4N2_HUMAN	I	25	ENSP00000452022:L25I;ENSP00000319601:L25I	ENSP00000319601:L25I	L	+	1	0	OR4N2	19365520	0.000000	0.05858	0.967000	0.41034	0.973000	0.67179	-0.276000	0.08514	0.563000	0.29222	0.591000	0.81541	CTC		PASS	0.438	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			39	94	39	94	---	---	---	---
RNASE4	6038	broad.mit.edu	37	14	21167824	21167824	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:21167824C>A	ENST00000555835.1	+	2	970	c.294C>A	c.(292-294)aaC>aaA	p.N98K	RNASE4_ENST00000304704.4_Missense_Mutation_p.N98K|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000397995.2_Missense_Mutation_p.N98K|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000555597.1_Missense_Mutation_p.N98K	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	98					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)	p.N98K(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCAAGATGAACTGCCATGAGG	0.498																																					Esophageal Squamous(59;1059 1362 26290 51151)	uc001vxy.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(292-294)AAC>AAA		ribonuclease, RNase A family, 4 precursor							158.0	129.0	139.0					14																	21167824		2203	4300	6503	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167824C>A	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.294C>A	14.37:g.21167824C>A	ENSP00000452245:p.Asn98Lys					RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.N98K	p.N98K	NM_002937	NP_002928	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	857	+	all_cancers(95;0.00304)		98						Missense_Mutation	SNP	ENST00000555835.1	37	c.294C>A	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932922	0.73442	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.8	4.9	0.64082	Ribonuclease A, domain (4);	0.193714	0.44097	D	0.000488	D	0.83866	0.5347	M	0.73598	2.24	0.34655	D	0.722034	D	0.89917	1.0	D	0.87578	0.998	D	0.87882	0.2678	10	0.87932	D	0	-29.2487	10.1066	0.42537	0.0:0.9107:0.0:0.0893	.	98	P34096	RNAS4_HUMAN	K	98	ENSP00000452245:N98K;ENSP00000381081:N98K;ENSP00000451624:N98K;ENSP00000381087:N98K;ENSP00000307096:N98K;ENSP00000381085:N98K	ENSP00000307096:N98K	N	+	3	2	AL163636.2;RNASE4	20237664	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.821000	0.27338	2.902000	0.99343	0.650000	0.86243	AAC		PASS	0.498	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			16	62	16	62	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24731311	24731311	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:24731311C>A	ENST00000206765.6	-	2	371	c.248G>T	c.(247-249)cGg>cTg	p.R83L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	83	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R83L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTCTGAGCCCCGGGAGCCAGG	0.647																																						uc001wod.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(247-249)CGG>CTG		transglutaminase 1	L-Glutamine(DB00130)						42.0	52.0	49.0					14																	24731311		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731311C>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.248G>T	14.37:g.24731311C>A	ENSP00000206765:p.Arg83Leu					TGM1_uc010tog.1_Intron	p.R83L	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	2	372	-			83			Membrane anchorage region.		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.248G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813508	0.32053	.	.	ENSG00000092295	ENST00000206765	T	0.80994	-1.44	4.44	2.62	0.31277	Immunoglobulin E-set (1);	1.938180	0.02777	N	0.120408	T	0.67627	0.2913	N	0.24115	0.695	0.18873	N	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.52601	-0.8554	10	0.07030	T	0.85	-9.8727	7.277	0.26290	0.1938:0.6194:0.1868:0.0	.	83	P22735	TGM1_HUMAN	L	83	ENSP00000206765:R83L	ENSP00000206765:R83L	R	-	2	0	TGM1	23801151	1.000000	0.71417	0.340000	0.25575	0.660000	0.38997	3.280000	0.51677	0.512000	0.28257	0.561000	0.74099	CGG		PASS	0.647	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		13	14	13	14	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975152	44975152	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:44975152G>T	ENST00000340446.4	-	1	1330	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	347	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.L347M(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTTCAGCCAGAAGCTCTACA	0.502																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1039-1041)CTG>ATG		fibrous sheath CABYR binding protein							71.0	82.0	78.0					14																	44975152		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975152G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1039C>A	14.37:g.44975152G>T	ENSP00000344579:p.Leu347Met						p.L347M	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1348	-			347			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1039C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	6.967	0.548373	0.13312	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.13089	2.62	2.02	0.109	0.14578	.	.	.	.	.	T	0.07954	0.0199	N	0.14661	0.345	0.09310	N	1	P	0.39782	0.688	B	0.41764	0.366	T	0.31024	-0.9958	9	0.34782	T	0.22	-0.5695	4.822	0.13396	0.5157:0.0:0.4843:0.0	.	347	Q5H9T9	FSCB_HUMAN	M	347	ENSP00000344579:L347M	ENSP00000344579:L347M	L	-	1	2	FSCB	44044902	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.990000	0.03732	0.016000	0.14998	0.194000	0.17425	CTG		PASS	0.502	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		39	64	39	64	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52171516	52171516	+	Missense_Mutation	SNP	C	C	G	rs368248024		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:52171516C>G	ENST00000344768.5	+	6	617	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	FRMD6_ENST00000395718.2_Missense_Mutation_p.L133V|FRMD6_ENST00000356218.4_Missense_Mutation_p.L133V|FRMD6_ENST00000554167.1_Missense_Mutation_p.L64V			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	141	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L133V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAAACAAGTTCTTCATTCTCA	0.428																																						uc001wzd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(421-423)CTT>GTT		FERM domain containing 6							67.0	64.0	65.0					14																	52171516		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52171516C>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.421C>G	14.37:g.52171516C>G	ENSP00000343899:p.Leu141Val					FRMD6_uc001wzb.2_Missense_Mutation_p.L133V|FRMD6_uc001wzc.2_Missense_Mutation_p.L133V|FRMD6_uc001wze.2_Missense_Mutation_p.L64V	p.L141V	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			6	706	+	all_epithelial(31;0.0163)|Breast(41;0.089)		141			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.421C>G	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589448	0.66105	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167;ENST00000557405	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.32	5.32	0.75619	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.87116	0.6097	M	0.73598	2.24	0.80722	D	1	B;B;B	0.32467	0.067;0.364;0.372	B;B;B	0.41691	0.069;0.253;0.364	D	0.87556	0.2468	10	0.87932	D	0	.	18.9833	0.92762	0.0:1.0:0.0:0.0	.	64;141;133	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	V	133;133;141;72;64;31	ENSP00000348550:L133V;ENSP00000379068:L133V;ENSP00000343899:L141V;ENSP00000451453:L72V;ENSP00000451977:L64V;ENSP00000450667:L31V	ENSP00000343899:L141V	L	+	1	0	FRMD6	51241266	1.000000	0.71417	0.796000	0.32109	0.988000	0.76386	4.893000	0.63199	2.483000	0.83821	0.603000	0.83216	CTT		PASS	0.428	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		10	42	10	42	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58796253	58796253	+	Missense_Mutation	SNP	A	A	G	rs138296226	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:58796253A>G	ENST00000355431.3	+	10	1043	c.670A>G	c.(670-672)Ata>Gta	p.I224V	ARID4A_ENST00000348476.3_Missense_Mutation_p.I224V|ARID4A_ENST00000395168.3_Missense_Mutation_p.I224V|ARID4A_ENST00000431317.2_Missense_Mutation_p.I224V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	224					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I224V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAGTTACTCTATAGCAAGAAA	0.299																																						uc001xdp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(670-672)ATA>GTA		retinoblastoma-binding protein 1 isoform I		A	VAL/ILE,VAL/ILE,VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	60.0	63.0	62.0		670,670,670	-0.8	1.0	14	dbSNP_134	62	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense,missense	ARID4A	NM_002892.3,NM_023000.2,NM_023001.2	29,29,29	0,3,6496	GG,GA,AA		0.0116,0.0454,0.0231	benign,benign,benign	224/1258,224/1204,224/1189	58796253	3,12995	2203	4296	6499	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58796253A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.670A>G	14.37:g.58796253A>G	ENSP00000347602:p.Ile224Val					ARID4A_uc001xdo.2_Missense_Mutation_p.I224V|ARID4A_uc001xdq.2_Missense_Mutation_p.I224V|ARID4A_uc010apg.1_5'Flank	p.I224V	NM_002892	NP_002883	P29374	ARI4A_HUMAN			10	924	+			224					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.670A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	2.371	-0.344230	0.05208	4.54E-4	1.16E-4	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.08458	3.11;3.11;3.09;3.11	5.76	-0.791	0.10929	RBB1NT (1);	0.143589	0.64402	N	0.000007	T	0.02267	0.0070	N	0.01668	-0.77	0.31800	N	0.628523	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.48091	-0.9065	10	0.02654	T	1	-8.7966	12.0637	0.53576	0.5351:0.0:0.4649:0.0	.	224;224;224	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	V	224;224;224;187;224	ENSP00000347602:I224V;ENSP00000344556:I224V;ENSP00000378597:I224V;ENSP00000397368:I224V	ENSP00000344556:I224V	I	+	1	0	ARID4A	57866006	0.995000	0.38212	0.983000	0.44433	0.975000	0.68041	0.637000	0.24659	-0.375000	0.07955	-0.256000	0.11100	ATA		PASS	0.299	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		14	26	14	26	---	---	---	---
TOMM20L	387990	broad.mit.edu	37	14	58869446	58869446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:58869446G>T	ENST00000360945.2	+	3	271	c.229G>T	c.(229-231)Gag>Tag	p.E77*	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	77					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)		p.E77*(1)		large_intestine(2)|lung(2)	4						TTTCTTGCAAGAGGTACGGAT	0.313																																						uc001xdr.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(229-231)GAG>TAG		translocase of outer mitochondrial membrane 20							143.0	161.0	155.0					14																	58869446		2203	4300	6503	SO:0001587	stop_gained	387990				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		g.chr14:58869446G>T		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type I"""					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.229G>T	14.37:g.58869446G>T	ENSP00000354204:p.Glu77*					TOMM20L_uc010trq.1_Intron	p.E77*	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN			3	261	+			77			Cytoplasmic (Potential).		B2RPR0	Nonsense_Mutation	SNP	ENST00000360945.2	37	c.229G>T	CCDS9734.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452789	0.84209	.	.	ENSG00000196860	ENST00000360945	.	.	.	4.71	4.71	0.59529	.	0.000000	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.6478	14.6803	0.69012	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000354204:E77X	E	+	1	0	TOMM20L	57939199	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.799000	0.62517	2.467000	0.83353	0.585000	0.79938	GAG		PASS	0.313	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		6	98	6	98	---	---	---	---
RAB15	376267	broad.mit.edu	37	14	65417054	65417054	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:65417054G>T	ENST00000533601.2	-	5	740	c.403C>A	c.(403-405)Caa>Aaa	p.Q135K	FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Missense_Mutation_p.Q89K|RAB15_ENST00000436278.2_3'UTR|RAB15_ENST00000267512.5_Missense_Mutation_p.S178R|FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	135					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.S178R(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGCTGCCCTTGCTCTCTTCCC	0.587																																						uc001xhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(532-534)AGC>AGA		RAB15, member RAS onocogene family							319.0	268.0	285.0					14																	65417054		2203	4300	6503	SO:0001583	missense	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417054G>T	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.403C>A	14.37:g.65417054G>T	ENSP00000434103:p.Gln135Lys					FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	p.S178R	NM_198686	NP_941959	P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	5	615	-			Error:Variant_position_missing_in_P59190_after_alignment					G5EMR7|Q86TX7|Q8IW89	Missense_Mutation	SNP	ENST00000533601.2	37	c.534C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.010090|3.010090	0.54361|0.54361	.|.	.|.	ENSG00000139998|ENSG00000139998	ENST00000533601;ENST00000426039;ENST00000554593|ENST00000267512	T;T;T|T	0.76316|0.66099	-1.01;-1.01;-1.01|-0.19	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.38720	.|N	.|0.001587	T|T	0.46718|0.46718	0.1407|0.1407	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.15141	.|0.012	.|B	.|0.14578	.|0.011	T|T	0.37979|0.37979	-0.9682|-0.9682	7|10	0.05721|0.51188	T|T	0.95|0.08	.|.	18.9094|18.9094	0.92477|0.92477	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|178	.|P59190-2	.|.	K|R	135;89;89|178	ENSP00000434103:Q135K;ENSP00000433485:Q89K;ENSP00000452195:Q89K|ENSP00000267512:S178R	ENSP00000434103:Q135K|ENSP00000267512:S178R	Q|S	-|-	1|3	0|2	RAB15|RAB15	64486807|64486807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.841000|8.841000	0.92131|0.92131	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CAA|AGC		PASS	0.587	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		67	104	67	104	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70989667	70989667	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:70989667G>T	ENST00000256389.3	-	2	2202	c.1958C>A	c.(1957-1959)cCt>cAt	p.P653H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	603	EGF-like.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P653H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACCAATATCAGGTATAGCCAT	0.458																																						uc001xme.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1957-1959)CCT>CAT		ADAM metallopeptidase domain 20 preproprotein							246.0	188.0	208.0					14																	70989667		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989667G>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1958C>A	14.37:g.70989667G>T	ENSP00000256389:p.Pro653His						p.P653H	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2203	-			603			Cys-rich.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1958C>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453112	0.26161	.	.	ENSG00000134007	ENST00000256389	T	0.23147	1.92	4.67	2.77	0.32553	ADAM, cysteine-rich (2);	0.443540	0.16762	N	0.200576	T	0.40322	0.1112	M	0.88842	2.985	0.22292	N	0.999223	P	0.44816	0.844	P	0.48598	0.583	T	0.36625	-0.9740	10	0.87932	D	0	.	5.535	0.17005	0.1639:0.0:0.6716:0.1645	.	603	O43506	ADA20_HUMAN	H	653	ENSP00000256389:P653H	ENSP00000256389:P653H	P	-	2	0	ADAM20	70059420	0.268000	0.24133	0.835000	0.33067	0.004000	0.04260	0.937000	0.28951	1.056000	0.40484	-0.311000	0.09066	CCT		PASS	0.458	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			6	103	6	103	---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76232418	76232418	+	Silent	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:76232418A>G	ENST00000298832.9	+	20	1927	c.1722A>G	c.(1720-1722)ccA>ccG	p.P574P	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.P588P|TTLL5_ENST00000554510.1_Silent_p.P83P|TTLL5_ENST00000556893.1_Silent_p.P125P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	574					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.P574P(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTACCCAACCAGCTGAAATGA	0.388																																						uc001xrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1720-1722)CCA>CCG		tubulin tyrosine ligase-like family, member 5							71.0	69.0	69.0					14																	76232418		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76232418A>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1722A>G	14.37:g.76232418A>G						TTLL5_uc010ask.1_Silent_p.P588P|TTLL5_uc001xrz.2_Silent_p.P149P|TTLL5_uc001xry.1_RNA	p.P574P	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	20	1927	+			574					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.1722A>G	CCDS32124.1																																																																																				PASS	0.388	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		15	35	15	35	---	---	---	---
ASB2	51676	broad.mit.edu	37	14	94419793	94419793	+	Missense_Mutation	SNP	G	G	C	rs113529772		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:94419793G>C	ENST00000315988.4	-	3	883	c.395C>G	c.(394-396)aCg>aGg	p.T132R	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.T180R	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	132					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.T132R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCCTGCACGTTGCCAAGTA	0.587																																						uc001ycc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(394-396)ACG>AGG		ankyrin repeat and SOCS box-containing protein							71.0	65.0	67.0					14																	94419793		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94419793G>C	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.395C>G	14.37:g.94419793G>C	ENSP00000320675:p.Thr132Arg					ASB2_uc001ycd.2_Missense_Mutation_p.T180R|ASB2_uc001yce.1_Missense_Mutation_p.T78R	p.T132R	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	3	884	-		all_cancers(154;0.13)	132			ANK 3.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.395C>G	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142782	0.57044	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000555287	T;T;T;T	0.71579	-0.11;-0.11;-0.11;-0.58	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.118220	0.64402	D	0.000007	T	0.80439	0.4623	L	0.42529	1.33	0.49299	D	0.999771	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.69824	0.94;0.966;0.94	T	0.81564	-0.0875	10	0.87932	D	0	-10.8437	19.6793	0.95956	0.0:0.0:1.0:0.0	.	148;180;132	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	R	180;148;132;78;78;98	ENSP00000451575:T180R;ENSP00000320675:T132R;ENSP00000450940:T78R;ENSP00000451654:T98R	ENSP00000320675:T132R	T	-	2	0	ASB2	93489546	1.000000	0.71417	0.145000	0.22337	0.100000	0.18952	6.384000	0.73177	2.713000	0.92767	0.655000	0.94253	ACG		PASS	0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			6	24	6	24	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95570126	95570126	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:95570126T>A	ENST00000526495.1	-	23	3898	c.3607A>T	c.(3607-3609)Aat>Tat	p.N1203Y	DICER1_ENST00000556045.1_Missense_Mutation_p.N101Y|DICER1_ENST00000343455.3_Missense_Mutation_p.N1203Y|DICER1_ENST00000541352.1_Missense_Mutation_p.N1203Y|DICER1_ENST00000393063.1_Missense_Mutation_p.N1203Y|DICER1_ENST00000527414.1_Missense_Mutation_p.N1203Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1203					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.N1203Y(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)		TTGTAGTAATTTAGCTGATTT	0.403			"""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.(3607-3609)AAT>TAT		dicer1							133.0	132.0	132.0					14																	95570126		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.chr14:95570126T>A	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.3607A>T	14.37:g.95570126T>A	ENSP00000437256:p.Asn1203Tyr					DICER1_uc010avh.1_Missense_Mutation_p.N101Y|DICER1_uc001ydv.2_Missense_Mutation_p.N1193Y|DICER1_uc001ydx.2_Missense_Mutation_p.N1203Y|DICER1_uc001ydy.1_Missense_Mutation_p.N55Y	p.N1203Y	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3789	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1203					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3607A>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297839	0.40694	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.86769	0.4;0.4;0.4;0.4;-2.17;0.71	5.57	5.57	0.84162	.	0.571757	0.21066	N	0.080756	T	0.79387	0.4437	L	0.27053	0.805	0.33368	D	0.57316	P;B;B	0.38642	0.641;0.055;0.21	B;B;B	0.31614	0.133;0.03;0.081	D	0.85545	0.1218	10	0.54805	T	0.06	-16.6745	15.7186	0.77688	0.0:0.0:0.0:1.0	.	101;1203;1203	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	Y	1203;1203;1203;1203;101;1203	ENSP00000343745:N1203Y;ENSP00000437256:N1203Y;ENSP00000376783:N1203Y;ENSP00000435681:N1203Y;ENSP00000451041:N101Y;ENSP00000444719:N1203Y	ENSP00000343745:N1203Y	N	-	1	0	DICER1	94639879	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.523000	0.53488	2.119000	0.64992	0.459000	0.35465	AAT		PASS	0.403	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			28	54	28	54	---	---	---	---
MIR494	574452	broad.mit.edu	37	14	101493134	101493134	+	RNA	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:101493134G>T	ENST00000349529.2	+	0	0				MIR380_ENST00000362112.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR758_ENST00000390227.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR299_ENST00000385016.2_RNA	NR_030174.1				microRNA 494																		TACCTGAAGAGAGGTTTTCTG	0.443																																						hsa-mir-329-1|MI0001725																			0					0															253.0	212.0	224.0					14																	101493134		1568	3582	5150			574408							g.chr14:101493134G>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493134G>T						MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank										+									RNA	SNP	ENST00000349529.2	37	c.13G>T																																																																																					PASS	0.443	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		20	36	20	36	---	---	---	---
SIVA1	10572	broad.mit.edu	37	14	105222016	105222016	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:105222016C>G	ENST00000329967.6	+	2	270	c.168C>G	c.(166-168)caC>caG	p.H56Q	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	56					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.H56Q(1)		large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		ACCTGGACCACGTGTGGGATG	0.607																																						uc001yph.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CAC>CAG		CD27-binding (Siva) protein isoform 1							90.0	87.0	88.0					14																	105222016		2203	4300	6503	SO:0001583	missense	10572				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding	g.chr14:105222016C>G	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.168C>G	14.37:g.105222016C>G	ENSP00000329213:p.His56Gln					INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Missense_Mutation_p.H56Q|SIVA1_uc001ypg.1_Missense_Mutation_p.H56Q|SIVA1_uc001ypi.2_Intron	p.H56Q	NM_006427	NP_006418	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)	2	237	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	56					Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	c.168C>G	CCDS9992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.802|2.802	-0.248931|-0.248931	0.05867|0.05867	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000329967;ENST00000553810|ENST00000556195	.|.	.|.	.|.	4.89|4.89	-3.12|-3.12	0.05282|0.05282	.|.	0.743675|.	0.12956|.	N|.	0.425420|.	T|T	0.40839|0.40839	0.1133|0.1133	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	B;P;B|.	0.43519|.	0.055;0.809;0.029|.	B;B;B|.	0.43301|.	0.135;0.415;0.028|.	T|T	0.41431|0.41431	-0.9509|-0.9509	9|5	0.27082|.	T|.	0.32|.	-5.8651|-5.8651	6.4923|6.4923	0.22123|0.22123	0.1143:0.52:0.0:0.3657|0.1143:0.52:0.0:0.3657	.|.	56;56;56|.	B4DTY2;O15304;G3V3U1|.	.;SIVA_HUMAN;.|.	Q|R	56|74	.|.	ENSP00000329213:H56Q|.	H|T	+|+	3|2	2|0	SIVA1|SIVA1	104293061|104293061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-0.859000|-0.859000	0.04277|0.04277	-1.214000|-1.214000	0.02614|0.02614	-1.533000|-1.533000	0.00918|0.00918	CAC|ACG		PASS	0.607	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		8	15	8	15	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105413877	105413877	+	Silent	SNP	G	G	C	rs545635842		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr14:105413877G>C	ENST00000333244.5	-	7	8030	c.7911C>G	c.(7909-7911)gcC>gcG	p.A2637A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2637						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A2637A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCCTTGTCGGCCAGGGACA	0.607																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(7909-7911)GCC>GCG		AHNAK nucleoprotein 2							193.0	211.0	205.0					14																	105413877		1973	4141	6114	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413877G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7911C>G	14.37:g.105413877G>C						AHNAK2_uc001ypx.2_Silent_p.A2537A	p.A2637A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8031	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2637					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7911C>G	CCDS45177.1																																																																																				PASS	0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		28	171	28	171	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931540	23931540	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:23931540G>T	ENST00000331837.4	-	1	910	c.825C>A	c.(823-825)atC>atA	p.I275I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	275	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I275I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAACTCCATGATTTGCATCT	0.582									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)ATC>ATA		necdin							30.0	33.0	32.0					15																	23931540		2203	4300	6503	SO:0001819	synonymous_variant	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931540G>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.825C>A	15.37:g.23931540G>T							p.I275I	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	911	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	275			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.825C>A	CCDS10014.1																																																																																				PASS	0.582	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		6	11	6	11	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25925069	25925069	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:25925069C>A	ENST00000356865.6	-	21	4030	c.3919G>T	c.(3919-3921)Gca>Tca	p.A1307S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1307					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1307S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AACTGACGTGCCAGCTGAAGT	0.507																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3919-3921)GCA>TCA		ATPase, class V, type 10A							69.0	74.0	73.0					15																	25925069		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925069C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3919G>T	15.37:g.25925069C>A	ENSP00000349325:p.Ala1307Ser						p.A1307S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4025	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1307			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3919G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771848	0.31320	.	.	ENSG00000206190	ENST00000356865	T	0.39787	1.06	5.41	3.53	0.40419	.	0.209092	0.41001	N	0.000963	T	0.38026	0.1025	M	0.63843	1.955	0.23533	N	0.997474	P	0.37176	0.586	B	0.35114	0.196	T	0.26360	-1.0105	10	0.37606	T	0.19	-6.186	11.1612	0.48516	0.0:0.8525:0.0:0.1475	.	1307	O60312	AT10A_HUMAN	S	1307	ENSP00000349325:A1307S	ENSP00000349325:A1307S	A	-	1	0	ATP10A	23476162	1.000000	0.71417	0.720000	0.30636	0.035000	0.12851	4.255000	0.58804	1.284000	0.44531	0.655000	0.94253	GCA		PASS	0.507	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		32	30	32	30	---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	39910398	39910398	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:39910398C>A	ENST00000350221.3	-	11	1446	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	413								p.D413Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATGCATTCATCCAGAAGACAC	0.368																																						uc001zki.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1237-1239)GAT>TAT		fibrous sheath interacting protein 1							52.0	55.0	54.0					15																	39910398		2198	4293	6491	SO:0001583	missense	161835							g.chr15:39910398C>A	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1237G>T	15.37:g.39910398C>A	ENSP00000280236:p.Asp413Tyr						p.D413Y	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	11	1455	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	413					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.1237G>T	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218436	0.58560	.	.	ENSG00000150667	ENST00000350221	T	0.14144	2.53	5.06	5.06	0.68205	.	0.154751	0.37178	N	0.002211	T	0.22166	0.0534	L	0.29908	0.895	0.35702	D	0.815699	D	0.89917	1.0	D	0.69479	0.964	T	0.04495	-1.0947	9	.	.	.	-6.0351	11.5602	0.50772	0.0:0.9177:0.0:0.0823	.	413	Q8NA03	FSIP1_HUMAN	Y	413	ENSP00000280236:D413Y	.	D	-	1	0	FSIP1	37697690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.880000	0.48530	2.785000	0.95823	0.655000	0.94253	GAT		PASS	0.368	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		20	22	20	22	---	---	---	---
CHP1	11261	broad.mit.edu	37	15	41570972	41570972	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:41570972G>T	ENST00000334660.5	+	6	659	c.419G>T	c.(418-420)cGc>cTc	p.R140L	CHP1_ENST00000560397.1_Intron|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	140	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.R140L(1)									CAGGTGCTACGCATGATGGTC	0.478																																						uc001znl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)CGC>CTC		calcium binding protein P22							94.0	81.0	85.0					15																	41570972		2203	4300	6503	SO:0001583	missense	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41570972G>T		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.419G>T	15.37:g.41570972G>T	ENSP00000335632:p.Arg140Leu					CHP_uc010bcd.1_5'Flank	p.R140L	NM_007236	NP_009167	Q99653	CHP1_HUMAN		GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169)	6	563	+		all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143)	140			EF-hand 3.		B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	c.419G>T	CCDS10073.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273937	0.80580	.	.	ENSG00000187446	ENST00000334660	T	0.71461	-0.57	5.27	4.32	0.51571	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.75777	2.31	0.80722	D	1	P	0.35363	0.497	B	0.39805	0.31	T	0.78163	-0.2311	10	0.66056	D	0.02	-9.1806	14.9092	0.70743	0.0:0.0:0.8562:0.1438	.	140	Q99653	CHP1_HUMAN	L	140	ENSP00000335632:R140L	ENSP00000335632:R140L	R	+	2	0	AC012652.1	39358264	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.733000	0.98818	2.467000	0.83353	0.591000	0.81541	CGC		PASS	0.478	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		16	11	16	11	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41862286	41862286	+	Silent	SNP	G	G	A	rs369583019		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:41862286G>A	ENST00000263798.3	+	10	1538	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	TYRO3_ENST00000559066.1_Silent_p.T393T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	438					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.T430T(1)|p.T438T(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)		GTGTGCTAACGGCCCTGGTGA	0.627																																						uc001zof.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(1312-1314)ACG>ACA		TYRO3 protein tyrosine kinase precursor		G		0,4406		0,0,2203	63.0	58.0	60.0		1314	-10.2	0.4	15		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TYRO3	NM_006293.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		438/891	41862286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41862286G>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.1314G>A	15.37:g.41862286G>A							p.T438T	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)	10	1538	+		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)	438			Helical; (Potential).		O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	c.1314G>A	CCDS10080.1																																																																																				PASS	0.627	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			16	5	16	5	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42702687	42702687	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:42702687C>T	ENST00000397163.3	+	20	2396	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V	CAPN3_ENST00000349748.3_Missense_Mutation_p.A634V|CAPN3_ENST00000397204.4_Missense_Mutation_p.A61V|CAPN3_ENST00000569136.1_Missense_Mutation_p.A61V|CAPN3_ENST00000356316.3_Missense_Mutation_p.A633V|CAPN3_ENST00000337571.4_Missense_Mutation_p.A61V|CAPN3_ENST00000318023.7_Missense_Mutation_p.A720V|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.A720V|CAPN3_ENST00000397200.4_Missense_Mutation_p.A214V|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000561817.1_Missense_Mutation_p.A61V	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	726	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A720V(1)|p.A633V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AAGATTAAGGCCTGGCAGGTG	0.502																																						uc001zpn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2176-2178)GCC>GTC		calpain 3 isoform a							93.0	102.0	99.0					15																	42702687		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42702687C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2177C>T	15.37:g.42702687C>T	ENSP00000380349:p.Ala726Val					CAPN3_uc001zpk.1_Missense_Mutation_p.A493V|CAPN3_uc001zpl.1_Missense_Mutation_p.A633V|CAPN3_uc010udf.1_Missense_Mutation_p.A639V|CAPN3_uc010udg.1_Missense_Mutation_p.A591V|CAPN3_uc001zpo.1_Missense_Mutation_p.A720V|CAPN3_uc001zpp.1_Missense_Mutation_p.A634V|CAPN3_uc001zpq.1_Missense_Mutation_p.A214V|CAPN3_uc010bcv.1_Missense_Mutation_p.A61V|CAPN3_uc001zpr.1_Missense_Mutation_p.A61V|CAPN3_uc001zps.1_Missense_Mutation_p.A61V|CAPN3_uc001zpt.1_Missense_Mutation_p.A61V	p.A726V	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	20	2483	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	726			EF-hand 3.|Domain IV.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2177C>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318697	0.60524	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	4.72	3.77	0.43336	EF-hand-like domain (1);	0.567972	0.17317	U	0.178665	D	0.90817	0.7116	L	0.35723	1.085	0.28816	N	0.897951	B;B;B;B;B;B;B	0.29341	0.146;0.146;0.242;0.036;0.036;0.045;0.075	B;B;B;B;B;B;B	0.36766	0.201;0.201;0.232;0.127;0.088;0.143;0.219	D	0.85866	0.1413	10	0.54805	T	0.06	.	7.7147	0.28698	0.1375:0.5843:0.2782:0.0	.	591;639;61;634;720;726;633	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	V	633;214;726;720;634;720;214;61;61	ENSP00000348667:A633V;ENSP00000380349:A726V;ENSP00000350181:A720V;ENSP00000183936:A634V;ENSP00000326281:A720V;ENSP00000380384:A214V;ENSP00000336840:A61V;ENSP00000380387:A61V	ENSP00000326281:A720V	A	+	2	0	CAPN3	40489979	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.768000	0.47645	2.459000	0.83118	0.563000	0.77884	GCC		PASS	0.502	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			18	26	18	26	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49064722	49064722	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:49064722G>T	ENST00000380950.2	-	13	1931	c.1744C>A	c.(1744-1746)Cac>Aac	p.H582N	CEP152_ENST00000325747.5_Missense_Mutation_p.H489N|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.H582N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	582					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.H582N(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCACTTGGTGGAGATCTTCA	0.363																																						uc001zwy.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1744-1746)CAC>AAC		centrosomal protein 152kDa							160.0	146.0	150.0					15																	49064722		1872	4102	5974	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064722G>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1744C>A	15.37:g.49064722G>T	ENSP00000370337:p.His582Asn					CEP152_uc001zwz.2_Missense_Mutation_p.H582N|CEP152_uc001zxa.1_Missense_Mutation_p.H489N	p.H582N	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1778	-		all_lung(180;0.0428)	582					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1744C>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660210	0.47572	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.76316	-1.01;-1.01;-1.01	5.78	3.81	0.43845	.	0.533478	0.20551	N	0.090108	T	0.54615	0.1869	N	0.08118	0	0.09310	N	1	B;B;B	0.16603	0.004;0.004;0.018	B;B;B	0.13407	0.006;0.009;0.009	T	0.30995	-0.9959	10	0.23891	T	0.37	-8.5554	8.2404	0.31656	0.0:0.1324:0.6098:0.2578	.	489;582;582	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	582;489;582;582	ENSP00000370337:H582N;ENSP00000321000:H489N;ENSP00000382271:H582N	ENSP00000321000:H489N	H	-	1	0	CEP152	46852014	1.000000	0.71417	0.127000	0.21898	0.820000	0.46376	2.580000	0.46068	2.894000	0.99253	0.591000	0.81541	CAC		PASS	0.363	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		5	68	5	68	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50152498	50152498	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:50152498C>T	ENST00000284509.6	-	28	3613	c.3472G>A	c.(3472-3474)Ggg>Agg	p.G1158R	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G1158R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1158						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1158R(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTTCCAGCCCTGATGTTGGG	0.418																																						uc001zxu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3472-3474)GGG>AGG		ATPase class I type 8B member 4							166.0	157.0	160.0					15																	50152498		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50152498C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3472G>A	15.37:g.50152498C>T	ENSP00000284509:p.Gly1158Arg					ATP8B4_uc010ber.2_Missense_Mutation_p.G1031R|ATP8B4_uc010ufd.1_Missense_Mutation_p.G968R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.G161R	p.G1158R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	28	3614	-		all_lung(180;0.00183)	1158			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3472G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503564	0.26949	.	.	ENSG00000104043	ENST00000284509	T	0.27557	1.66	5.48	4.56	0.56223	.	0.574191	0.17907	N	0.157984	T	0.29914	0.0748	M	0.63843	1.955	0.36010	D	0.837972	B;B	0.15719	0.014;0.006	B;B	0.23150	0.044;0.013	T	0.22941	-1.0202	10	0.10377	T	0.69	.	11.864	0.52482	0.0:0.9149:0.0:0.0851	.	236;1158	Q6PG43;Q8TF62	.;AT8B4_HUMAN	R	1158	ENSP00000284509:G1158R	ENSP00000284509:G1158R	G	-	1	0	ATP8B4	47939790	0.123000	0.22298	0.991000	0.47740	0.961000	0.63080	0.980000	0.29513	1.315000	0.45114	0.455000	0.32223	GGG		PASS	0.418	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		30	23	30	23	---	---	---	---
RORA	6095	broad.mit.edu	37	15	60919479	60919479	+	Intron	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:60919479C>G	ENST00000335670.6	-	2	297				RORA_ENST00000261523.5_Missense_Mutation_p.R32T|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.R32T	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R32T(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCAGACATTCTGGCCTGTCC	0.547																																						uc002agv.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(94-96)AGA>ACA		RAR-related orphan receptor A isoform b							196.0	136.0	156.0					15																	60919479		2203	4300	6503	SO:0001627	intron_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60919479C>G	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+51376G>C	15.37:g.60919479C>G						RORA_uc002agw.2_Missense_Mutation_p.R32T|RORA_uc002agx.2_Intron	p.R32T	NM_134260	NP_599022	P35398	RORA_HUMAN			1	251	-			32			Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.95G>C	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720977	0.15372	.	.	ENSG00000069667	ENST00000309157;ENST00000261523	D;D	0.95137	-3.62;-3.51	3.22	1.24	0.21308	.	.	.	.	.	D	0.85358	0.5678	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.008;0.018	B;B	0.16289	0.015;0.011	T	0.72779	-0.4190	9	0.27082	T	0.32	.	8.458	0.32910	0.0:0.7764:0.0:0.2236	.	32;32	P35398-3;P35398	.;RORA_HUMAN	T	32	ENSP00000309753:R32T;ENSP00000261523:R32T	ENSP00000261523:R32T	R	-	2	0	RORA	58706771	0.016000	0.18221	0.014000	0.15608	0.003000	0.03518	-0.041000	0.12084	0.058000	0.16222	-0.797000	0.03246	AGA		PASS	0.547	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			11	16	11	16	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238616	69238616	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:69238616C>A	ENST00000310673.3	+	2	897	c.743C>A	c.(742-744)cCa>cAa	p.P248Q	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	248					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.P248Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ACCAGCAACCCAGCATATAGA	0.373																																						uc002arn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)CCA>CAA		sperm equatorial segment protein 1 precursor							54.0	57.0	56.0					15																	69238616		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238616C>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.743C>A	15.37:g.69238616C>A	ENSP00000312284:p.Pro248Gln					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.P248Q	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	871	+			248					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.743C>A	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990150	0.54041	.	.	ENSG00000258484	ENST00000310673	T	0.24723	1.84	5.28	4.35	0.52113	.	0.488374	0.17262	N	0.180757	T	0.33440	0.0863	L	0.34521	1.04	0.23724	N	0.997017	D	0.57571	0.98	P	0.57846	0.828	T	0.08680	-1.0710	10	0.72032	D	0.01	-5.7185	10.9531	0.47341	0.2113:0.7887:0.0:0.0	.	248	Q6UW49	SPESP_HUMAN	Q	248	ENSP00000312284:P248Q	ENSP00000312284:P248Q	P	+	2	0	SPESP1	67025670	0.034000	0.19679	0.002000	0.10522	0.002000	0.02628	1.846000	0.39289	1.293000	0.44690	0.655000	0.94253	CCA		PASS	0.373	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		24	34	24	34	---	---	---	---
NEIL1	79661	broad.mit.edu	37	15	75644693	75644693	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:75644693C>T	ENST00000564784.1	+	5	1212	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000567959.1_3'UTR|NEIL1_ENST00000569035.1_Missense_Mutation_p.R195C|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000355059.4_Missense_Mutation_p.R195C			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	195					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R195C(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGAGAAGGCCCGCTCGGTCCT	0.657								Base excision repair (BER), DNA glycosylases																														uc002bad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(583-585)CGC>TGC	BER_DNA_glycosylases	nei endonuclease VIII-like 1							68.0	70.0	69.0					15																	75644693		2197	4294	6491	SO:0001583	missense	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75644693C>T	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.583C>T	15.37:g.75644693C>T	ENSP00000457352:p.Arg195Cys					NEIL1_uc002bae.2_Missense_Mutation_p.R281C	p.R195C	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			4	1089	+			195					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	c.583C>T	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567759	0.65651	.	.	ENSG00000140398	ENST00000355059	T	0.14766	2.48	5.62	4.67	0.58626	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.102209	0.64402	D	0.000003	T	0.37625	0.1010	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11842	-1.0571	10	0.66056	D	0.02	-24.7465	15.0492	0.71854	0.1423:0.8577:0.0:0.0	.	195	Q96FI4	NEIL1_HUMAN	C	195	ENSP00000347170:R195C	ENSP00000347170:R195C	R	+	1	0	NEIL1	73431746	0.974000	0.33945	0.994000	0.49952	0.423000	0.31445	2.336000	0.43938	2.656000	0.90262	0.609000	0.83330	CGC		PASS	0.657	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		9	13	9	13	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85400738	85400738	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:85400738C>G	ENST00000258888.5	+	6	3542	c.3375C>G	c.(3373-3375)caC>caG	p.H1125Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1125					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H1125Q(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCAGAGTCACCCACCAGAAA	0.662																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(3373-3375)CAC>CAG		alpha-kinase 3							37.0	41.0	39.0					15																	85400738		2203	4297	6500	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400738C>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3375C>G	15.37:g.85400738C>G	ENSP00000258888:p.His1125Gln						p.H1125Q	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3542	+			1125					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3375C>G	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677106	0.47886	.	.	ENSG00000136383	ENST00000258888	T	0.64991	-0.13	3.93	0.815	0.18763	.	2.814560	0.00988	N	0.003491	T	0.60025	0.2237	L	0.36672	1.1	0.22066	N	0.999384	D	0.56968	0.978	P	0.51657	0.676	T	0.50372	-0.8836	10	0.37606	T	0.19	-3.3689	3.5435	0.07820	0.0:0.5459:0.2146:0.2395	.	1125	Q96L96	ALPK3_HUMAN	Q	1125	ENSP00000258888:H1125Q	ENSP00000258888:H1125Q	H	+	3	2	ALPK3	83201742	0.000000	0.05858	0.892000	0.35008	0.944000	0.59088	0.032000	0.13732	0.872000	0.35775	0.563000	0.77884	CAC		PASS	0.662	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	17	8	17	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91528042	91528042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr15:91528042C>A	ENST00000361188.5	-	2	1236	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PRC1_ENST00000361919.3_Nonsense_Mutation_p.E9*|PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000442656.2_Nonsense_Mutation_p.E9*|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Nonsense_Mutation_p.E9*					protein regulator of cytokinesis 1									p.E9*(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATGGACTCCTCCGCCAGCACC	0.453																																						uc002bqm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(25-27)GAG>TAG		protein regulator of cytokinesis 1 isoform 1							114.0	112.0	112.0					15																	91528042		2198	4298	6496	SO:0001587	stop_gained	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91528042C>A	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.25G>T	15.37:g.91528042C>A	ENSP00000354679:p.Glu9*					PRC1_uc002bqn.2_Nonsense_Mutation_p.E9*|PRC1_uc002bqo.2_Nonsense_Mutation_p.E9*|PRC1_uc010uqs.1_Nonsense_Mutation_p.E9*|PRC1_uc010uqt.1_Intron	p.E9*	NM_003981	NP_003972	O43663	PRC1_HUMAN			2	182	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		9			Dimerization.			Nonsense_Mutation	SNP	ENST00000361188.5	37	c.25G>T	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	46	12.438481	0.99668	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	.	.	.	5.65	5.65	0.86999	.	0.397415	0.25636	N	0.029309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000354679:E9X	E	-	1	0	PRC1	89329046	1.000000	0.71417	0.966000	0.40874	0.539000	0.34962	5.061000	0.64319	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.453	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		34	58	34	58	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250520	1250520	+	Silent	SNP	C	C	T	rs369894677		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:1250520C>T	ENST00000348261.5	+	7	1316	c.1068C>T	c.(1066-1068)aaC>aaT	p.N356N	CACNA1H_ENST00000565831.1_Silent_p.N356N|CACNA1H_ENST00000358590.4_Silent_p.N356N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	356					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.N356N(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACCCCCACAACGGTGCCATCA	0.657																																						uc002cks.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(1066-1068)AAC>AAT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)	G	,	0,4264		0,0,2132	59.0	65.0	63.0		1068,1068	-0.2	1.0	16		63	1,8449		0,1,4224	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6356	TT,TC,CC		0.0118,0.0,0.0079	,	356/2348,356/2354	1250520	1,12713	2132	4225	6357	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250520C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1068C>T	16.37:g.1250520C>T						CACNA1H_uc002ckt.2_Silent_p.N356N	p.N356N	NM_021098	NP_066921	O95180	CAC1H_HUMAN			7	1316	+		Hepatocellular(780;0.00369)	356			Extracellular (Potential).|I.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.1068C>T	CCDS45375.1																																																																																				PASS	0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		10	30	10	30	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2331210	2331210	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:2331210G>T	ENST00000301732.5	-	28	4877	c.4177C>A	c.(4177-4179)Cgg>Agg	p.R1393R	ABCA3_ENST00000382381.3_Silent_p.R1335R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1393	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1393R(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGGGCACCCGCTGCTCGTAC	0.632																																						uc002cpy.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(4177-4179)CGG>AGG		ATP-binding cassette, sub-family A member 3							46.0	45.0	46.0					16																	2331210		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2331210G>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4177C>A	16.37:g.2331210G>T						ABCA3_uc010bsk.1_Silent_p.R1335R	p.R1393R	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			28	4889	-		Ovarian(90;0.17)	1393			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4177C>A	CCDS10466.1																																																																																				PASS	0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		17	11	17	11	---	---	---	---
NDUFAB1	4706	broad.mit.edu	37	16	23607476	23607476	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:23607476C>G	ENST00000570319.1	-	1	136	c.136G>C	c.(136-138)Ggg>Cgg	p.G46R	NDUFAB1_ENST00000007516.3_Missense_Mutation_p.G46R			O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa	46					cellular metabolic process (GO:0044237)|fatty acid biosynthetic process (GO:0006633)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein lipoylation (GO:0009249)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	ACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process (GO:0000036)|calcium ion binding (GO:0005509)|fatty acid binding (GO:0005504)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G46R(1)		endometrium(1)|large_intestine(1)|lung(1)	3				GBM - Glioblastoma multiforme(48;0.0339)		TGCAAAGTCCCGAGCCTCGTC	0.726																																						uc002dlw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GGG>CGG		NADH dehydrogenase (ubiquinone) 1, alpha/beta	NADH(DB00157)						16.0	21.0	19.0					16																	23607476		2183	4281	6464	SO:0001583	missense	4706				fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding	g.chr16:23607476C>G	AF087660	CCDS10614.1	16p12.3	2011-07-04	2002-08-29		ENSG00000004779	ENSG00000004779		"""Mitochondrial respiratory chain complex / Complex I"""	7694	protein-coding gene	gene with protein product	"""acyl carrier protein, mitochondrial"", ""complex I SDAP subunit"""	603836	"""NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1 (8kD, SDAP)"""			9763677, 9878551	Standard	NM_005003		Approved	SDAP, FASN2A, ACP	uc002dlw.3	O14561	OTTHUMG00000096985	ENST00000570319.1:c.136G>C	16.37:g.23607476C>G	ENSP00000458770:p.Gly46Arg						p.G46R	NM_005003	NP_004994	O14561	ACPM_HUMAN		GBM - Glioblastoma multiforme(48;0.0339)	1	164	-			46					B2R4M1|Q9UNV1	Missense_Mutation	SNP	ENST00000570319.1	37	c.136G>C	CCDS10614.1	.	.	.	.	.	.	.	.	.	.	C	2.838	-0.241083	0.05906	.	.	ENSG00000004779	ENST00000007516	.	.	.	4.15	-1.41	0.08941	.	0.575030	0.18780	N	0.131360	T	0.21590	0.0520	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.13335	-1.0513	9	0.14252	T	0.57	0.4701	1.5313	0.02536	0.1595:0.3429:0.3108:0.1868	.	46	O14561	ACPM_HUMAN	R	46	.	ENSP00000007516:G46R	G	-	1	0	NDUFAB1	23514977	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.157000	0.10085	-0.186000	0.10533	-0.305000	0.09177	GGG		PASS	0.726	NDUFAB1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436917.1	NM_005003		3	10	3	10	---	---	---	---
GSG1L	146395	broad.mit.edu	37	16	27818807	27818807	+	Splice_Site	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:27818807C>T	ENST00000447459.2	-	6	983		c.e6+1		GSG1L_ENST00000395724.3_Splice_Site|GSG1L_ENST00000380898.2_Splice_Site|GSG1L_ENST00000569166.1_Splice_Site|GSG1L_ENST00000380897.3_Splice_Site	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGGCCACTTACGGGCAGGGTA	0.532																																						uc002doz.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e6+1		GSG1-like isoform 1							73.0	58.0	63.0					16																	27818807		2196	4300	6496	SO:0001630	splice_region_variant	146395					integral to membrane		g.chr16:27818807C>T	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.898+1G>A	16.37:g.27818807C>T						GSG1L_uc010bya.1_Splice_Site_p.R249_splice|GSG1L_uc010bxz.1_Splice_Site_p.R163_splice|GSG1L_uc002doy.2_Splice_Site_p.R145_splice	p.R300_splice	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN			6	983	-								Q7Z6F8|Q8TB81	Splice_Site	SNP	ENST00000447459.2	37	c.898_splice	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207193	0.39003	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5171	0.50529	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSG1L	27726308	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	3.232000	0.51302	2.426000	0.82243	0.561000	0.74099	.		PASS	0.532	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675	Intron	4	19	4	19	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50744691	50744691	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:50744691A>T	ENST00000300589.2	+	4	974	c.869A>T	c.(868-870)gAc>gTc	p.D290V	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	290					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.D290V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CACCTCAATGACGATGCGGAC	0.662																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(868-870)GAC>GTC		nucleotide-binding oligomerization domain							38.0	38.0	38.0					16																	50744691		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744691A>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.869A>T	16.37:g.50744691A>T	ENSP00000300589:p.Asp290Val					NOD2_uc010cbk.1_Missense_Mutation_p.D263V|NOD2_uc002egl.1_Missense_Mutation_p.D68V|NOD2_uc010cbl.1_Missense_Mutation_p.D68V|NOD2_uc010cbm.1_Missense_Mutation_p.D68V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.D290V	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	974	+		all_cancers(37;0.0156)	290					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.869A>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	4.781	0.145306	0.09134	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.69685	-0.42	5.62	-0.967	0.10316	.	1.252590	0.05489	N	0.556208	T	0.39358	0.1075	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.22851	0.015;0.076;0.037	B;B;B	0.23574	0.008;0.047;0.023	T	0.21143	-1.0254	10	0.51188	T	0.08	.	1.8183	0.03105	0.4823:0.2515:0.1447:0.1214	.	74;263;290	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	V	263;290	ENSP00000300589:D290V	ENSP00000300589:D290V	D	+	2	0	NOD2	49302192	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.209000	0.32357	-0.496000	0.06650	0.374000	0.22700	GAC		PASS	0.662	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		7	9	7	9	---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58036523	58036523	+	5'Flank	SNP	A	A	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:58036523A>G	ENST00000299237.2	-	0	0				USB1_ENST00000561743.1_Missense_Mutation_p.N29S|USB1_ENST00000219281.3_Missense_Mutation_p.N80S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000423271.3_Missense_Mutation_p.N80S|USB1_ENST00000563149.1_Missense_Mutation_p.N80S|USB1_ENST00000539737.2_Missense_Mutation_p.N80S	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319						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.N80S(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GAGCGAGGCAACTGGGCCACC	0.592																																						uc002emz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)AAC>AGC		hypothetical protein LOC79650							76.0	64.0	68.0					16																	58036523		2198	4300	6498	SO:0001631	upstream_gene_variant	79650							g.chr16:58036523A>G	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9			16.37:g.58036523A>G	Exception_encountered					ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.N80S|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.N80S|C16orf57_uc010vic.1_Missense_Mutation_p.N29S	p.N80S	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN			2	322	+			80					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.239A>G	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114945	0.56505	.	.	ENSG00000103005	ENST00000219281;ENST00000543731;ENST00000539737;ENST00000423271	T;T;T	0.60171	0.21;0.21;0.21	5.55	4.36	0.52297	.	0.173808	0.64402	D	0.000013	T	0.68118	0.2966	M	0.87547	2.89	0.44485	D	0.997423	P;P;P	0.47034	0.58;0.889;0.482	B;P;B	0.50896	0.253;0.653;0.246	T	0.72623	-0.4237	10	0.56958	D	0.05	-38.8538	8.2105	0.31481	0.7944:0.0:0.075:0.1305	.	80;80;80	B4DZW5;B4DWE3;Q9BQ65	.;.;CP057_HUMAN	S	80;46;80;80	ENSP00000219281:N80S;ENSP00000446143:N80S;ENSP00000409792:N80S	ENSP00000219281:N80S	N	+	2	0	C16orf57	56594024	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.493000	0.66899	2.111000	0.64477	0.533000	0.62120	AAC		PASS	0.592	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			8	11	8	11	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71487152	71487152	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:71487152G>T	ENST00000393539.2	-	5	949	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	ZNF23_ENST00000497160.1_Missense_Mutation_p.Q46K|ZNF23_ENST00000358700.2_Missense_Mutation_p.Q46K|ZNF23_ENST00000357254.4_Missense_Mutation_p.Q46K|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.Q46K|ZNF23_ENST00000539742.1_Intron|ZNF23_ENST00000428724.2_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	46					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.Q46K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTACCAGTCTGGAGGCCCTGG	0.488																																						uc002faf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CAG>AAG		zinc finger protein 23							35.0	33.0	34.0					16																	71487152		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71487152G>T	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.136C>A	16.37:g.71487152G>T	ENSP00000377171:p.Gln46Lys					ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_Intron|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Missense_Mutation_p.Q46K|ZNF23_uc002fai.2_Missense_Mutation_p.Q84K	p.Q46K	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	5	950	-		Ovarian(137;0.00768)	46					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.136C>A	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	G	4.616	0.114540	0.08831	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828	T;T;T	0.27104	1.69;1.69;1.69	4.83	2.55	0.30701	.	0.687463	0.12113	N	0.498314	T	0.09512	0.0234	N	0.03608	-0.345	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.18555	-1.0333	10	0.09843	T	0.71	0.2682	6.5416	0.22382	0.7911:0.0:0.2089:0.0	.	46;46	B3KR55;P17027	.;ZNF23_HUMAN	K	46	ENSP00000377171:Q46K;ENSP00000349796:Q46K;ENSP00000395712:Q46K	ENSP00000349796:Q46K	Q	-	1	0	ZNF23	70044653	0.016000	0.18221	0.987000	0.45799	0.023000	0.10783	0.333000	0.19768	0.398000	0.25338	-0.373000	0.07131	CAG		PASS	0.488	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		4	8	4	8	---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80718954	80718954	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr16:80718954C>G	ENST00000570137.2	-	2	252	c.97G>C	c.(97-99)Ggg>Cgg	p.G33R	CDYL2_ENST00000563890.1_Missense_Mutation_p.G33R|CDYL2_ENST00000566173.1_Missense_Mutation_p.G33R|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.G33R	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	33	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.					nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G33R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCGGTGCTCCCGTAGCCTTTC	0.478																																						uc002ffs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(97-99)GGG>CGG		chromodomain protein, Y-like 2							153.0	133.0	140.0					16																	80718954		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718954C>G	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.97G>C	16.37:g.80718954C>G	ENSP00000476295:p.Gly33Arg						p.G33R	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			2	202	-			33			Chromo.		Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.97G>C	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950630	0.73787	.	.	ENSG00000166446	ENST00000299564	T	0.72282	-0.64	5.08	5.08	0.68730	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.66297	2.02	0.53688	D	0.999971	D	0.69078	0.997	D	0.69654	0.965	T	0.83326	-0.0015	10	0.56958	D	0.05	.	17.6489	0.88157	0.0:1.0:0.0:0.0	.	33	Q8N8U2	CDYL2_HUMAN	R	33	ENSP00000299564:G33R	ENSP00000299564:G33R	G	-	1	0	CDYL2	79276455	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.701000	0.61810	2.636000	0.89361	0.655000	0.94253	GGG		PASS	0.478	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		34	21	34	21	---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7415644	7415644	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:7415644C>T	ENST00000322644.6	+	26	4872	c.4473C>T	c.(4471-4473)ccC>ccT	p.P1491P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1491					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.P1491P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAATATCCCCGGCCTGGGGG	0.652																																						uc002ghf.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(4471-4473)CCC>CCT		DNA-directed RNA polymerase II A							37.0	41.0	40.0					17																	7415644		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7415644C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4473C>T	17.37:g.7415644C>T							p.P1491P	NM_000937	NP_000928	P24928	RPB1_HUMAN			26	4707	+		Prostate(122;0.173)	1491					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.4473C>T	CCDS32548.1																																																																																				PASS	0.652	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		11	6	11	6	---	---	---	---
RANGRF	29098	broad.mit.edu	37	17	8193298	8193298	+	3'UTR	SNP	C	C	A	rs554698090		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:8193298C>A	ENST00000226105.6	+	0	897				SLC25A35_ENST00000580340.1_Missense_Mutation_p.R245L|RANGRF_ENST00000407006.4_3'UTR|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000380067.2_Missense_Mutation_p.R245L|RANGRF_ENST00000580434.1_3'UTR|SLC25A35_ENST00000396278.1_Silent_p.P270P|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000579192.1_Missense_Mutation_p.R245L	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)	p.R245L(1)		endometrium(1)	1						CTTGGGGACTCGGTTCTGTGA	0.468																																						uc002gku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CGA>CTA		solute carrier family 25, member 35							129.0	134.0	132.0					17																	8193298		2203	4300	6503	SO:0001624	3_prime_UTR_variant	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8193298C>A	AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"""MOG1 homolog (S. cerevisiae)"""	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.*44C>A	17.37:g.8193298C>A						SLC25A35_uc002gkt.2_Missense_Mutation_p.R245L|RANGRF_uc002gkv.2_3'UTR|RANGRF_uc002gkw.2_3'UTR|RANGRF_uc002gky.2_3'UTR|RANGRF_uc002gkx.2_3'UTR|SLC25A35_uc002gkz.1_RNA	p.R245L	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN			5	779	-			Error:Variant_position_missing_in_Q3KQZ1_after_alignment					D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	ENST00000226105.6	37	c.734G>T	CCDS11137.1	.	.	.	.	.	.	.	.	.	.	C	4.363	0.066912	0.08388	.	.	ENSG00000125434	ENST00000380067	T	0.79454	-1.27	4.56	-2.88	0.05682	.	1.825500	0.02842	N	0.128102	T	0.59280	0.2182	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41431	-0.9509	9	0.19590	T	0.45	.	5.4282	0.16438	0.0:0.2831:0.4423:0.2746	.	245	Q3KQZ1-4	.	L	245	ENSP00000369407:R245L	ENSP00000369407:R245L	R	-	2	0	SLC25A35	8134023	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.588000	0.02106	-0.226000	0.09899	-0.192000	0.12808	CGA		PASS	0.468	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1	NM_016492		5	135	5	135	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10215277	10215277	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:10215277C>T	ENST00000418404.3	-	31	4645	c.4482G>A	c.(4480-4482)gaG>gaA	p.E1494E	MYH13_ENST00000252172.4_Silent_p.E1494E|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1494					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1494E(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTCCACCACCTCCTCATAGG	0.532																																						uc002gmk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(4480-4482)GAG>GAA		myosin, heavy polypeptide 13, skeletal muscle							101.0	104.0	103.0					17																	10215277		2070	4209	6279	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10215277C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4482G>A	17.37:g.10215277C>T							p.E1494E	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			32	4572	-			1494			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4482G>A	CCDS45613.1																																																																																				PASS	0.532	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		9	42	9	42	---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16526040	16526040	+	Silent	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:16526040T>C	ENST00000311331.7	-	6	2251	c.2160A>G	c.(2158-2160)ggA>ggG	p.G720G		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	720					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.G720G(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGTTTCTCTCCAGTATGTG	0.388																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2158-2160)GGA>GGG		zinc finger protein 624							131.0	131.0	131.0					17																	16526040		2203	4300	6503	SO:0001819	synonymous_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526040T>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2160A>G	17.37:g.16526040T>C							p.G720G	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	2243	-			720					Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	c.2160A>G	CCDS11180.1																																																																																				PASS	0.388	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		34	23	34	23	---	---	---	---
EVI2B	2124	broad.mit.edu	37	17	29632186	29632186	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:29632186G>T	ENST00000330927.4	-	2	596	c.442C>A	c.(442-444)Caa>Aaa	p.Q148K	EVI2B_ENST00000544462.1_Missense_Mutation_p.Q163K|EVI2B_ENST00000577894.1_Missense_Mutation_p.Q148K|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	148						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.Q148K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GATGATTGTTGAGTAAAAGTA	0.433																																						uc002hgk.2																			12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)		soft_tissue(7)|lung(2)|autonomic_ganglia(2)|central_nervous_system(1)	ovary(2)	2						c.(442-444)CAA>AAA		ecotropic viral integration site 2B precursor							345.0	297.0	313.0					17																	29632186		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632186G>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.442C>A	17.37:g.29632186G>T	ENSP00000333779:p.Gln148Lys					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.Q163K	p.Q148K	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	597	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	148			Extracellular (Potential).		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.442C>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497158	0.26861	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.42900	0.97;0.96	5.41	3.28	0.37604	.	0.465850	0.18113	N	0.151318	T	0.37544	0.1007	M	0.67953	2.075	0.09310	N	0.999997	B;B	0.22909	0.077;0.019	B;B	0.19391	0.025;0.025	T	0.21075	-1.0256	10	0.23302	T	0.38	-10.1065	8.7841	0.34809	0.0:0.1636:0.6669:0.1695	.	163;148	B7Z4A7;P34910	.;EVI2B_HUMAN	K	148;163	ENSP00000333779:Q148K;ENSP00000439738:Q163K	ENSP00000333779:Q148K	Q	-	1	0	EVI2B	26656312	0.831000	0.29352	0.650000	0.29550	0.095000	0.18619	0.936000	0.28938	1.247000	0.43917	0.561000	0.74099	CAA		PASS	0.433	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		6	131	6	131	---	---	---	---
KRTAP3-1	83896	broad.mit.edu	37	17	39165091	39165091	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:39165091C>G	ENST00000391588.1	-	1	275	c.236G>C	c.(235-237)gGg>gCg	p.G79A	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	79						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G79A(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CAGGTTGATCCCACTCAGTCC	0.597																																						uc002hvt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GGG>GCG		keratin associated protein 3.1							59.0	54.0	56.0					17																	39165091		2203	4296	6499	SO:0001583	missense	83896					keratin filament	structural molecule activity	g.chr17:39165091C>G	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"""Keratin associated proteins"""	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.236G>C	17.37:g.39165091C>G	ENSP00000375430:p.Gly79Ala						p.G79A	NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN			1	276	-		Breast(137;0.00043)	79					Q14DM4	Missense_Mutation	SNP	ENST00000391588.1	37	c.236G>C	CCDS32645.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620277	0.46736	.	.	ENSG00000212901	ENST00000391588	T	0.22539	1.95	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000112	T	0.47192	0.1432	.	.	.	0.42222	D	0.991852	D	0.76494	0.999	D	0.91635	0.999	T	0.42120	-0.9470	9	0.56958	D	0.05	-12.8699	15.1876	0.73016	0.0:1.0:0.0:0.0	.	79	Q9BYR8	KRA31_HUMAN	A	79	ENSP00000375430:G79A	ENSP00000375430:G79A	G	-	2	0	KRTAP3-1	36418617	0.942000	0.31987	0.976000	0.42696	0.181000	0.23173	3.414000	0.52693	2.728000	0.93425	0.632000	0.83419	GGG		PASS	0.597	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1			3	7	3	7	---	---	---	---
KRTAP4-5	85289	broad.mit.edu	37	17	39305582	39305582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:39305582G>T	ENST00000343246.4	-	1	472	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	146	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C146*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGACGCACgcagcagcagg	0.647																																						uc002hwb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(436-438)TGC>TGA		keratin associated protein 4-5							23.0	19.0	20.0					17																	39305582		2197	4286	6483	SO:0001587	stop_gained	85289					keratin filament		g.chr17:39305582G>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.438C>A	17.37:g.39305582G>T	ENSP00000340546:p.Cys146*						p.C146*	NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	473	-		Breast(137;0.000496)	151			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|27.			Nonsense_Mutation	SNP	ENST00000343246.4	37	c.438C>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	17.37	3.371347	0.61624	.	.	ENSG00000198271	ENST00000343246	.	.	.	4.48	1.88	0.25563	.	0.216326	0.22772	U	0.055828	.	.	.	.	.	.	0.47407	D	0.999412	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0426	0.14467	0.1539:0.1875:0.6586:0.0	.	.	.	.	X	146	.	ENSP00000340546:C146X	C	-	3	2	KRTAP4-5	36559108	0.001000	0.12720	0.041000	0.18516	0.874000	0.50279	0.073000	0.14640	0.345000	0.23873	0.655000	0.94253	TGC		PASS	0.647	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			3	9	3	9	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219285	45219285	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:45219285G>C	ENST00000066544.3	-	12	1578	c.1485C>G	c.(1483-1485)caC>caG	p.H495Q	CDC27_ENST00000446365.2_Missense_Mutation_p.H434Q|CDC27_ENST00000531206.1_Missense_Mutation_p.H501Q|CDC27_ENST00000527547.1_Missense_Mutation_p.H494Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	495					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.H501Q(1)|p.H495Q(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CAGTATTGTAGTGGTGAGAAG	0.373																																						uc002ild.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|ovary(1)	5						c.(1483-1485)CAC>CAG		cell division cycle protein 27 isoform 2							112.0	118.0	116.0					17																	45219285		2203	4299	6502	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219285G>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1485C>G	17.37:g.45219285G>C	ENSP00000066544:p.His495Gln					CDC27_uc002ile.3_Missense_Mutation_p.H501Q|CDC27_uc002ilf.3_Missense_Mutation_p.H494Q|CDC27_uc010wkp.1_Missense_Mutation_p.H434Q|CDC27_uc010wkq.1_Intron	p.H495Q	NM_001256	NP_001247	P30260	CDC27_HUMAN			12	1612	-			495					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1485C>G	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104927	0.37145	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	N	0.04686	-0.185	0.58432	D	0.999999	D;P;P;P	0.54397	0.966;0.913;0.913;0.736	B;B;B;B	0.42692	0.395;0.322;0.322;0.128	T	0.61579	-0.7034	10	0.28530	T	0.3	-29.717	17.8151	0.88630	0.0:0.0:1.0:0.0	.	434;494;501;495	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Q	495;501;434;494	ENSP00000066544:H495Q;ENSP00000434614:H501Q;ENSP00000392802:H434Q;ENSP00000437339:H494Q	ENSP00000066544:H495Q	H	-	3	2	CDC27	42574284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.579000	0.67457	2.810000	0.96702	0.650000	0.86243	CAC		PASS	0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	188	7	188	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48704077	48704077	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:48704077G>A	ENST00000359106.5	+	38	7099	c.7099G>A	c.(7099-7101)Ggt>Agt	p.G2367S	CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2195S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2288S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2184S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2240S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2217S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2222S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2311S|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2229S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2274S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2251S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2161S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2333S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2256S|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G2240S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2249S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2281S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2263S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2322S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2267S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2277S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2296S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2233S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2356S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2304S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2367					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.G2367S(2)|p.G2333S(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGTCTCTCCGGTTTATCCTC	0.622											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002irk.1																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(7099-7101)GGT>AGT		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						81.0	87.0	85.0					17																	48704077		1985	4146	6131	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48704077G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.7099G>A	17.37:g.48704077G>A	ENSP00000352011:p.Gly2367Ser		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_uc002irj.1_Missense_Mutation_p.G2161S|CACNA1G_uc002irl.1_Missense_Mutation_p.G2251S|CACNA1G_uc002irm.1_Missense_Mutation_p.G2288S|CACNA1G_uc002irn.1_Missense_Mutation_p.G2233S|CACNA1G_uc002iro.1_Missense_Mutation_p.G2240S|CACNA1G_uc002irp.1_Missense_Mutation_p.G2322S|CACNA1G_uc002irq.1_Missense_Mutation_p.G2344S|CACNA1G_uc002irr.1_Missense_Mutation_p.G2274S|CACNA1G_uc002irs.1_Missense_Mutation_p.G2311S|CACNA1G_uc002irt.1_Missense_Mutation_p.G2256S|CACNA1G_uc002irv.1_Missense_Mutation_p.G2263S|CACNA1G_uc002irw.1_Missense_Mutation_p.G2296S|CACNA1G_uc002iru.1_Missense_Mutation_p.G2333S|CACNA1G_uc002irx.1_Missense_Mutation_p.G2108S|CACNA1G_uc002iry.1_Missense_Mutation_p.G2097S|CACNA1G_uc002irz.1_Missense_Mutation_p.G2180S|CACNA1G_uc002isa.1_Missense_Mutation_p.G2153S|CACNA1G_uc002isb.1_Missense_Mutation_p.G2194S|CACNA1G_uc002isc.1_Missense_Mutation_p.G2269S|CACNA1G_uc002isd.1_Missense_Mutation_p.G2162S|CACNA1G_uc002ise.1_Missense_Mutation_p.G2190S|CACNA1G_uc002isf.1_Missense_Mutation_p.G2217S|CACNA1G_uc002isg.1_Missense_Mutation_p.G2135S|CACNA1G_uc002ish.1_Missense_Mutation_p.G2142S|CACNA1G_uc002isi.1_Missense_Mutation_p.G2130S	p.G2367S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		38	7471	+	Breast(11;6.7e-17)		2367			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.7099G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290142	0.59976	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.5	4.45	0.53987	.	0.676699	0.14290	N	0.328983	T	0.27933	0.0688	N	0.03608	-0.345	0.28272	N	0.924367	D;B;P;D;B;D;D;B;D;B;B;B;B;B;D;B;D;P;B;B;D;B;B;B;D	0.89917	1.0;0.107;0.784;1.0;0.098;1.0;1.0;0.265;1.0;0.001;0.001;0.095;0.107;0.159;1.0;0.098;1.0;0.8;0.058;0.107;1.0;0.048;0.261;0.252;1.0	D;B;B;D;B;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;D	0.87578	0.997;0.021;0.33;0.998;0.011;0.998;0.998;0.053;0.998;0.001;0.001;0.044;0.021;0.028;0.998;0.02;0.998;0.209;0.02;0.014;0.997;0.014;0.041;0.028;0.994	T	0.25152	-1.0140	10	0.13108	T	0.6	.	4.1493	0.10230	0.253:0.0:0.747:0.0	.	2217;2229;2222;2304;2277;2249;2281;2240;2267;2184;2195;2296;2263;2356;2256;2311;2274;2344;2322;2240;2233;2288;2251;2367;2161	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	S	2251;2240;2333;2233;2296;2263;2229;2217;2222;2240;2322;2356;2277;2267;2288;2274;2249;2311;2281;2161;2367;2256;2304;2195;2184	ENSP00000353990:G2251S;ENSP00000339302:G2240S;ENSP00000347078:G2333S;ENSP00000409759:G2233S;ENSP00000425522:G2296S;ENSP00000426261:G2263S;ENSP00000425451:G2229S;ENSP00000422407:G2217S;ENSP00000426814:G2222S;ENSP00000427238:G2240S;ENSP00000423112:G2322S;ENSP00000420918:G2356S;ENSP00000426172:G2277S;ENSP00000423045:G2267S;ENSP00000427173:G2288S;ENSP00000426098:G2274S;ENSP00000425698:G2249S;ENSP00000426232:G2311S;ENSP00000423317:G2281S;ENSP00000350979:G2161S;ENSP00000352011:G2367S;ENSP00000414388:G2256S;ENSP00000423155:G2304S;ENSP00000422268:G2195S;ENSP00000421518:G2184S	ENSP00000339302:G2240S	G	+	1	0	CACNA1G	46059076	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	6.216000	0.72212	2.590000	0.87494	0.561000	0.74099	GGT		PASS	0.622	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		15	99	15	99	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54451996	54451996	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:54451996G>T	ENST00000318698.2	+	7	875	c.840G>T	c.(838-840)atG>atT	p.M280I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.M280I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	280	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.M280I(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCTGTCTCATGGTAACCAGCA	0.468																																						uc002iun.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(838-840)ATG>ATT		ankyrin-repeat and fibronectin type III domain							215.0	195.0	202.0					17																	54451996		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54451996G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.840G>T	17.37:g.54451996G>T	ENSP00000321627:p.Met280Ile						p.M280I	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			7	875	+			280			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.840G>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344194	0.24339	.	.	ENSG00000153930	ENST00000318698	T	0.55760	0.5	5.53	4.56	0.56223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.304072	0.43747	D	0.000527	T	0.49712	0.1573	L	0.54323	1.7	0.40057	D	0.975854	B	0.17667	0.023	B	0.16722	0.016	T	0.50841	-0.8780	10	0.51188	T	0.08	-4.1109	14.6288	0.68640	0.0699:0.0:0.9301:0.0	.	280	Q8N957	ANKF1_HUMAN	I	280	ENSP00000321627:M280I	ENSP00000321627:M280I	M	+	3	0	ANKFN1	51806995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.373000	0.34272	1.487000	0.48415	0.655000	0.94253	ATG		PASS	0.468	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		8	192	8	192	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56350171	56350171	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:56350171A>T	ENST00000225275.3	-	10	1906	c.1730T>A	c.(1729-1731)aTg>aAg	p.M577K	MPO_ENST00000340482.3_Missense_Mutation_p.M609K|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	577					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.M577K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCCAATCCTCATGACCTGCTC	0.617																																						uc002ivu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1729-1731)ATG>AAG		myeloperoxidase	Cefdinir(DB00535)						118.0	114.0	115.0					17																	56350171		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350171A>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1730T>A	17.37:g.56350171A>T	ENSP00000225275:p.Met577Lys						p.M577K	NM_000250	NP_000241	P05164	PERM_HUMAN			10	1907	-			577					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1730T>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	A	1.470	-0.559997	0.03967	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.71341	-0.56;-0.56	5.16	4.01	0.46588	.	0.363022	0.31233	N	0.008011	T	0.43033	0.1229	N	0.05467	-0.045	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14364	-1.0475	10	0.15952	T	0.53	-28.5286	5.1627	0.15070	0.5759:0.1463:0.0:0.2778	.	577	P05164	PERM_HUMAN	K	609;577	ENSP00000344419:M609K;ENSP00000225275:M577K	ENSP00000225275:M577K	M	-	2	0	MPO	53705170	0.023000	0.18921	1.000000	0.80357	0.997000	0.91878	0.067000	0.14510	1.937000	0.56155	0.459000	0.35465	ATG		PASS	0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			29	61	29	61	---	---	---	---
STRADA	92335	broad.mit.edu	37	17	61788144	61788144	+	Missense_Mutation	SNP	C	C	A	rs141081057		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:61788144C>A	ENST00000336174.6	-	7	513	c.401G>T	c.(400-402)cGa>cTa	p.R134L	STRADA_ENST00000447001.3_Missense_Mutation_p.R90L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000582137.1_Missense_Mutation_p.R105L|STRADA_ENST00000375840.4_Missense_Mutation_p.R76L|STRADA_ENST00000392950.4_Missense_Mutation_p.R97L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000579340.1_Missense_Mutation_p.R76L|STRADA_ENST00000245865.5_Missense_Mutation_p.R76L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R134L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						AAAAGTGGCTCGATATGGCAC	0.478																																						uc002jbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)CGA>CTA		STE20-related kinase adaptor alpha isoform 1							149.0	120.0	130.0					17																	61788144		2203	4300	6503	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61788144C>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.401G>T	17.37:g.61788144C>A	ENSP00000336655:p.Arg134Leu					STRADA_uc002jbn.2_Missense_Mutation_p.R76L|STRADA_uc002jbo.2_Missense_Mutation_p.R97L|STRADA_uc002jbp.2_Missense_Mutation_p.R97L|STRADA_uc002jbq.2_Missense_Mutation_p.R76L|STRADA_uc010wpq.1_Missense_Mutation_p.R90L|STRADA_uc010wpr.1_Missense_Mutation_p.R105L|STRADA_uc010ddw.2_Missense_Mutation_p.R105L|STRADA_uc002jbr.2_Missense_Mutation_p.R76L	p.R134L	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			7	560	-			134			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.401G>T	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191972	0.38707	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.71222	-0.55;-0.55;-0.55;2.06	4.97	3.95	0.45737	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.221054	0.45126	D	0.000386	T	0.45776	0.1359	N	0.04820	-0.15	0.48975	D	0.999734	B;P;B;B;B;B;P	0.38800	0.366;0.648;0.362;0.0;0.185;0.366;0.612	B;B;B;B;B;B;B	0.39503	0.171;0.301;0.146;0.008;0.078;0.184;0.268	T	0.33727	-0.9857	10	0.17832	T	0.49	.	7.7091	0.28667	0.0:0.7467:0.0:0.2533	.	105;90;76;76;97;97;134	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	L	134;76;90;97;96	ENSP00000336655:R134L;ENSP00000365000:R76L;ENSP00000398841:R90L;ENSP00000376677:R97L	ENSP00000245865:R96L	R	-	2	0	STRADA	59141876	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.605000	0.36815	1.228000	0.43614	-0.367000	0.07326	CGA		PASS	0.478	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			4	59	4	59	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61885120	61885120	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:61885120G>T	ENST00000578681.1	+	10	1484	c.883G>T	c.(883-885)Ggt>Tgt	p.G295C	DDX42_ENST00000583590.1_Missense_Mutation_p.G295C|DDX42_ENST00000359353.5_Missense_Mutation_p.G176C|DDX42_ENST00000457800.2_Missense_Mutation_p.G295C|DDX42_ENST00000389924.2_Missense_Mutation_p.G295C	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	295	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.G295C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGACATGATTGGTATTGCCAA	0.403																																						uc002jbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)	5						c.(883-885)GGT>TGT		DEAD box polypeptide 42 protein							175.0	164.0	168.0					17																	61885120		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61885120G>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.883G>T	17.37:g.61885120G>T	ENSP00000464050:p.Gly295Cys					DDX42_uc002jbv.2_Missense_Mutation_p.G295C|DDX42_uc002jbw.1_Missense_Mutation_p.G31C|DDX42_uc002jbx.2_Missense_Mutation_p.G31C	p.G295C	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			10	1140	+			295			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.883G>T	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097463	0.94197	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.15603	2.41;2.41	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.045192	0.85682	D	0.000000	T	0.43986	0.1272	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17289	-1.0374	10	0.87932	D	0	-18.6652	19.3421	0.94347	0.0:0.0:1.0:0.0	.	295	Q86XP3	DDX42_HUMAN	C	295;295;31	ENSP00000374574:G295C;ENSP00000390121:G295C	ENSP00000352308:G31C	G	+	1	0	DDX42	59238852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GGT		PASS	0.403	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	157	7	157	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65918974	65918974	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:65918974G>T	ENST00000321892.4	+	16	6015	c.5954G>T	c.(5953-5955)aGg>aTg	p.R1985M	BPTF_ENST00000335221.5_Missense_Mutation_p.R1985M|BPTF_ENST00000306378.6_Missense_Mutation_p.R1859M|BPTF_ENST00000424123.3_Missense_Mutation_p.R1846M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1985					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1985M(1)|p.R1859M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACCTCAGAGGAAAGGCCTT	0.413																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(5575-5577)AGG>ATG		bromodomain PHD finger transcription factor							81.0	75.0	77.0					17																	65918974		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65918974G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5954G>T	17.37:g.65918974G>T	ENSP00000315454:p.Arg1985Met					BPTF_uc002jge.2_Missense_Mutation_p.R1985M	p.R1859M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		14	5637	+	all_cancers(12;6e-11)		1985					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5576G>T		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683336	0.68157	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.12672	2.66;2.66;2.66	5.25	5.25	0.73442	.	.	.	.	.	T	0.40839	0.1133	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.31364	-0.9946	9	0.87932	D	0	-11.8948	18.9223	0.92530	0.0:0.0:1.0:0.0	.	1859;1985	Q12830-2;Q12830-4	.;.	M	1859;1985;1985	ENSP00000307208:R1859M;ENSP00000334351:R1985M;ENSP00000315454:R1985M	ENSP00000307208:R1859M	R	+	2	0	BPTF	63349436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.430000	0.97488	2.467000	0.83353	0.552000	0.68991	AGG		PASS	0.413	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		6	113	6	113	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171272	68171272	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:68171272G>T	ENST00000243457.3	+	2	475	c.92G>T	c.(91-93)gGg>gTg	p.G31V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G31V	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	31					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.G31V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AATGGCTTTGGGAACGGGAAG	0.512																																						uc010dfg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GGG>GTG		potassium inwardly-rectifying channel J2							102.0	93.0	96.0					17																	68171272		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171272G>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.92G>T	17.37:g.68171272G>T	ENSP00000243457:p.Gly31Val					KCNJ2_uc002jir.2_Missense_Mutation_p.G31V	p.G31V	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	493	+	Breast(10;1.64e-08)		31			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.92G>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277913	0.40294	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	T;T	0.71817	-0.6;-0.6	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.052967	0.85682	D	0.000000	T	0.71281	0.3321	L	0.58810	1.83	0.80722	D	1	B	0.17852	0.024	B	0.29598	0.104	T	0.64863	-0.6307	9	.	.	.	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	31	P63252	IRK2_HUMAN	V	31	ENSP00000441848:G31V;ENSP00000243457:G31V	.	G	+	2	0	KCNJ2	65682867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.451000	0.97610	2.662000	0.90505	0.555000	0.69702	GGG		PASS	0.512	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		5	60	5	60	---	---	---	---
AATK	9625	broad.mit.edu	37	17	79094857	79094857	+	Missense_Mutation	SNP	G	G	T	rs200728517	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:79094857G>T	ENST00000326724.4	-	11	2903	c.2879C>A	c.(2878-2880)cCc>cAc	p.P960H	AATK_ENST00000417379.1_Missense_Mutation_p.P857H	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	960					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P960H(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AAAGGCCTGGGGCTCACACCC	0.647																																						uc010dia.2																			2	Substitution - Missense(2)		lung(2)	stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(2878-2880)CCC>CAC		apoptosis-associated tyrosine kinase							17.0	21.0	20.0					17																	79094857		1961	4136	6097	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094857G>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2879C>A	17.37:g.79094857G>T	ENSP00000324196:p.Pro960His					AATK_uc010dhz.2_Intron	p.P960H	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	2959	-	all_neural(118;0.101)		960					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2879C>A	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.72|10.72	1.431137|1.431137	0.25726|0.25726	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000326724|ENST00000417379	T|.	0.80033|.	-1.33|.	3.85|3.85	2.77|2.77	0.32553|0.32553	.|.	0.413978|0.413978	0.20940|0.20940	U|N	0.082928|0.082928	T|T	0.57286|0.57286	0.2043|0.2043	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	B|.	0.21225|.	0.053|.	B|.	0.20767|.	0.031|.	T|T	0.53711|0.53711	-0.8400|-0.8400	10|7	0.87932|0.87932	D|D	0|0	.|.	12.2531|12.2531	0.54610|0.54610	0.0:0.1729:0.8271:0.0|0.0:0.1729:0.8271:0.0	.|.	960|.	Q6ZMQ8|.	LMTK1_HUMAN|.	H|T	960|913	ENSP00000324196:P960H|.	ENSP00000324196:P960H|ENSP00000398796:P913T	P|P	-|-	2|1	0|0	AATK|AATK	76709452|76709452	0.023000|0.023000	0.18921|0.18921	0.569000|0.569000	0.28460|0.28460	0.209000|0.209000	0.24338|0.24338	1.881000|1.881000	0.39638|0.39638	1.690000|1.690000	0.51089|0.51089	0.462000|0.462000	0.41574|0.41574	CCC|CCC		PASS	0.647	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		8	3	8	3	---	---	---	---
CEP131	22994	broad.mit.edu	37	17	79163715	79163715	+	Splice_Site	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:79163715C>A	ENST00000269392.4	-	25	3424	c.3177G>T	c.(3175-3177)gaG>gaT	p.E1059D	AZI1_ENST00000374782.3_Splice_Site_p.E1020D|AZI1_ENST00000575907.1_Splice_Site_p.E1023D|AZI1_ENST00000450824.2_Splice_Site_p.E1056D	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		1059					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E1020D(1)|p.E1056D(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGGACTCACCTCATGTTGTG	0.672																																						uc002jzp.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(3175-3177)GAG>GAT		5-azacytidine induced 1 isoform a							61.0	52.0	55.0					17																	79163715		2203	4300	6503	SO:0001630	splice_region_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79163715C>A																												ENST00000269392.4:c.3177+1G>T	17.37:g.79163715C>A						AZI1_uc002jzm.1_Missense_Mutation_p.E491D|AZI1_uc002jzn.1_Missense_Mutation_p.E1056D|AZI1_uc002jzo.1_Missense_Mutation_p.E1020D|AZI1_uc010wum.1_Missense_Mutation_p.E1023D|AZI1_uc002jzq.2_Missense_Mutation_p.E207D	p.E1059D	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		25	3377	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1059					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.3177G>T		.	.	.	.	.	.	.	.	.	.	C	6.354	0.433472	0.12045	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16597	2.33;2.43;2.33	4.3	3.24	0.37175	.	0.135528	0.47852	D	0.000205	T	0.24509	0.0594	L	0.58101	1.795	0.47214	D	0.999351	P;B;P;B	0.52061	0.95;0.282;0.925;0.045	P;B;B;B	0.49999	0.628;0.093;0.443;0.045	T	0.01839	-1.1263	9	.	.	.	-15.4837	12.3804	0.55303	0.0:0.8996:0.0:0.1004	.	1056;1059;1020;1056	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	D	1056;1020;1059	ENSP00000393583:E1056D;ENSP00000363914:E1020D;ENSP00000269392:E1059D	.	E	-	3	2	AZI1	76778310	1.000000	0.71417	0.997000	0.53966	0.048000	0.14542	0.858000	0.27845	2.223000	0.72356	0.609000	0.83330	GAG		PASS	0.672	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		Missense_Mutation	18	9	18	9	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3215013	3215013	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr18:3215013T>A	ENST00000356443.4	-	2	542	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	MYOM1_ENST00000261606.7_Missense_Mutation_p.Q70L|MYOM1_ENST00000400569.3_Missense_Mutation_p.Q70L|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	70					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.Q70L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCCTGCTGCTGGGAGGAGGA	0.692																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(208-210)CAG>CTG		myomesin 1 isoform a							28.0	31.0	30.0					18																	3215013		2046	4201	6247	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215013T>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.209A>T	18.37:g.3215013T>A	ENSP00000348821:p.Gln70Leu					MYOM1_uc002klq.2_Missense_Mutation_p.Q70L	p.Q70L	NM_003803	NP_003794	P52179	MYOM1_HUMAN			2	543	-			70					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.209A>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	5.819	0.335366	0.11013	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.50001	0.93;0.94;0.76	4.85	0.98	0.19750	.	1.364720	0.04430	N	0.369008	T	0.29288	0.0729	N	0.14661	0.345	0.29394	N	0.862383	B;B	0.28933	0.228;0.049	B;B	0.24394	0.053;0.016	T	0.25433	-1.0132	10	0.44086	T	0.13	.	4.5271	0.11986	0.2984:0.0834:0.0:0.6182	.	70;70	P52179-2;P52179	.;MYOM1_HUMAN	L	70	ENSP00000348821:Q70L;ENSP00000383413:Q70L;ENSP00000261606:Q70L	ENSP00000261606:Q70L	Q	-	2	0	MYOM1	3205013	0.850000	0.29656	0.980000	0.43619	0.063000	0.16089	0.028000	0.13644	0.074000	0.16767	0.533000	0.62120	CAG		PASS	0.692	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		12	12	12	12	---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43666187	43666187	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr18:43666187G>T	ENST00000398752.6	-	10	1442	c.1321C>A	c.(1321-1323)Cgt>Agt	p.R441S	ATP5A1_ENST00000593152.2_Missense_Mutation_p.R391S|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R441S|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R419S	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	441					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.R441S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GCAACCTCACGATACTGAGCC	0.458																																						uc002lbr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1321-1323)CGT>AGT		ATP synthase, H+ transporting, mitochondrial F1							94.0	89.0	91.0					18																	43666187		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43666187G>T	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1321C>A	18.37:g.43666187G>T	ENSP00000381736:p.Arg441Ser					ATP5A1_uc010dnl.1_Missense_Mutation_p.R391S|ATP5A1_uc002lbs.1_Missense_Mutation_p.R391S|ATP5A1_uc002lbt.1_Missense_Mutation_p.R441S	p.R441S	NM_004046	NP_004037	P25705	ATPA_HUMAN			10	1411	-			441					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.1321C>A	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171293	0.94807	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.78924	-1.22;-1.22	4.93	4.93	0.64822	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.95613	0.8674	10	0.87932	D	0	-8.3503	18.2285	0.89926	0.0:0.0:1.0:0.0	.	441	P25705	ATPA_HUMAN	S	441;441;391	ENSP00000282050:R441S;ENSP00000381736:R441S	ENSP00000282050:R441S	R	-	1	0	ATP5A1	41920185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.865000	0.99609	2.304000	0.77564	0.650000	0.86243	CGT		PASS	0.458	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		4	56	4	56	---	---	---	---
KATNAL2	83473	broad.mit.edu	37	18	44595926	44595926	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr18:44595926C>A	ENST00000245121.5	+	10	941	c.747C>A	c.(745-747)tcC>tcA	p.S249S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.S321S	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.S249S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TTTCTGCATCCACCATTGTCA	0.373																																						uc002lco.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(745-747)TCC>TCA		katanin p60 subunit A-like 2							93.0	90.0	91.0					18																	44595926		2203	4300	6503	SO:0001819	synonymous_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44595926C>A	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.747C>A	18.37:g.44595926C>A						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.S176S	p.S249S	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			10	941	+			321						Silent	SNP	ENST00000245121.5	37	c.747C>A	CCDS32828.1																																																																																				PASS	0.373	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		5	48	5	48	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47799296	47799296	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr18:47799296C>T	ENST00000591416.1	-	14	2045	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	MBD1_ENST00000382948.5_Silent_p.K538K|MBD1_ENST00000585672.1_Silent_p.K488K|MBD1_ENST00000398493.1_Silent_p.K482K|MBD1_ENST00000588937.1_Silent_p.K469K|MBD1_ENST00000590208.1_Silent_p.K538K|MBD1_ENST00000591535.1_Silent_p.K469K|MBD1_ENST00000587605.1_Silent_p.K436K|MBD1_ENST00000339998.6_Silent_p.K492K|MBD1_ENST00000424334.2_Silent_p.K589K|MBD1_ENST00000585595.1_Silent_p.K563K|MBD1_ENST00000269471.5_Silent_p.K469K|MBD1_ENST00000269468.5_Silent_p.K538K|MBD1_ENST00000436910.1_Silent_p.K469K|MBD1_ENST00000347968.3_Silent_p.K482K|MBD1_ENST00000398495.2_Silent_p.K507K|MBD1_ENST00000398488.1_Silent_p.K436K|MBD1_ENST00000349085.2_Silent_p.K436K|MBD1_ENST00000353909.3_Silent_p.K489K|MBD1_ENST00000457839.2_Silent_p.K563K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	538	TRD.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K563K(1)|p.K469K(1)|p.K538K(1)|p.K492K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTGGCTCTTGCTTCACAGAAG	0.562																																						uc010dow.1																			4	Substitution - coding silent(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(1612-1614)AAG>AAA		methyl-CpG binding domain protein 1 isoform 1							92.0	88.0	89.0					18																	47799296		2203	4300	6503	SO:0001819	synonymous_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799296C>T	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1614G>A	18.37:g.47799296C>T						MBD1_uc002lef.2_Silent_p.K243K|MBD1_uc002leg.2_Silent_p.K488K|MBD1_uc010xdi.1_Silent_p.K589K|MBD1_uc002leh.3_Silent_p.K482K|MBD1_uc002len.2_Silent_p.K492K|MBD1_uc002lei.3_Silent_p.K538K|MBD1_uc002lej.3_Silent_p.K436K|MBD1_uc002lek.3_Silent_p.K489K|MBD1_uc002lel.3_Silent_p.K469K|MBD1_uc002lem.3_Silent_p.K538K|MBD1_uc010xdj.1_Silent_p.K436K|MBD1_uc010xdk.1_Silent_p.K563K|MBD1_uc010dox.1_Silent_p.K469K|MBD1_uc002leo.2_Silent_p.K492K	p.K538K	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			14	2051	-			538	K->A: Abolishes sumoylation; when associated with A-499.		TRD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	c.1614G>A	CCDS11943.1																																																																																				PASS	0.562	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		19	32	19	32	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74649197	74649197	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr18:74649197G>T	ENST00000253159.8	+	26	4872	c.4674G>T	c.(4672-4674)tcG>tcT	p.S1558S	ZNF236_ENST00000320610.9_Silent_p.S1560S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1558					cellular response to glucose stimulus (GO:0071333)|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.S1558S(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCATGTCCTCGTCGGGCGTGG	0.542																																						uc002lmi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(4672-4674)TCG>TCT		zinc finger protein 236							94.0	95.0	95.0					18																	74649197		2102	4228	6330	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74649197G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4674G>T	18.37:g.74649197G>T						ZNF236_uc002lmj.2_RNA	p.S1558S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	26	4872	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1558					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.4674G>T	CCDS42447.1																																																																																				PASS	0.542	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			31	23	31	23	---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4012940	4012940	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:4012940G>T	ENST00000262971.2	+	2	162	c.47G>T	c.(46-48)cGa>cTa	p.R16L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	16	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186, ECO:0000305}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R16L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGTTTTCGAGTCTCCGAC	0.597																																						uc002lzg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(46-48)CGA>CTA		protein inhibitor of activated STAT, 4							128.0	122.0	124.0					19																	4012940		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4012940G>T	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.47G>T	19.37:g.4012940G>T	ENSP00000262971:p.Arg16Leu						p.R16L	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	57	+			16			SAP.		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.47G>T	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038031	0.93630	.	.	ENSG00000105229	ENST00000262971	T	0.57907	0.37	5.08	5.08	0.68730	DNA-binding SAP (3);	0.000000	0.85682	D	0.000000	T	0.70055	0.3180	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73344	-0.4012	10	0.87932	D	0	-7.5536	17.4313	0.87540	0.0:0.0:1.0:0.0	.	16	Q8N2W9	PIAS4_HUMAN	L	16	ENSP00000262971:R16L	ENSP00000262971:R16L	R	+	2	0	PIAS4	3963940	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.808000	0.99193	2.358000	0.79984	0.561000	0.74099	CGA		PASS	0.597	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		5	68	5	68	---	---	---	---
SEMA6B	10501	broad.mit.edu	37	19	4552448	4552448	+	Silent	SNP	G	G	T	rs578017417		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:4552448G>T	ENST00000586582.1	-	10	1285	c.975C>A	c.(973-975)tcC>tcA	p.S325S	SEMA6B_ENST00000301293.3_Silent_p.S325S|SEMA6B_ENST00000586965.1_Silent_p.S325S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	325	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S325S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGGCGTGGAAAAAACGG	0.617																																						uc010duc.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(973-975)TCC>TCA		semaphorin 6B precursor							13.0	16.0	15.0					19																	4552448		2179	4283	6462	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4552448G>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.975C>A	19.37:g.4552448G>T						SEMA6B_uc010dud.2_Silent_p.S325S|SEMA6B_uc010xih.1_Silent_p.S325S	p.S325S	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1013	-		Hepatocellular(1079;0.137)	325			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.975C>A	CCDS12131.1																																																																																				PASS	0.617	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		3	6	3	6	---	---	---	---
MLLT1	4298	broad.mit.edu	37	19	6222149	6222149	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:6222149C>A	ENST00000252674.7	-	6	1256	c.1093G>T	c.(1093-1095)Gcc>Tcc	p.A365S		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	365					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.A365S(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGAAGGAGGCCTCGTCCTCT	0.647			T	MLL	AL																																	uc002mek.2				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1093-1095)GCC>TCC		myeloid/lymphoid or mixed-lineage leukemia							52.0	40.0	44.0					19																	6222149		2200	4299	6499	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222149C>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1093G>T	19.37:g.6222149C>A	ENSP00000252674:p.Ala365Ser						p.A365S	NM_005934	NP_005925	Q03111	ENL_HUMAN			6	1257	-			365					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.1093G>T	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051277	0.36181	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.65	4.65	0.58169	.	0.234832	0.42548	D	0.000683	T	0.48187	0.1486	M	0.65975	2.015	0.38240	D	0.941294	B	0.34103	0.437	B	0.28991	0.097	T	0.48340	-0.9044	9	0.08599	T	0.76	-34.4658	10.8088	0.46533	0.0:0.9062:0.0:0.0938	.	365	Q03111	ENL_HUMAN	S	365	.	ENSP00000252674:A365S	A	-	1	0	MLLT1	6173149	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.289000	0.65656	2.134000	0.65973	0.561000	0.74099	GCC		PASS	0.647	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		6	6	6	6	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6906479	6906479	+	Missense_Mutation	SNP	G	G	T	rs151096072		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:6906479G>T	ENST00000312053.4	+	9	1022	c.985G>T	c.(985-987)Gat>Tat	p.D329Y	EMR1_ENST00000450315.3_Missense_Mutation_p.D152Y|EMR1_ENST00000250572.8_Missense_Mutation_p.D329Y|EMR1_ENST00000381407.5_Missense_Mutation_p.D188Y|EMR1_ENST00000381404.4_Missense_Mutation_p.D277Y	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	329	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D329Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGATACCCGATAATAAGCA	0.393																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(985-987)GAT>TAT		egf-like module containing, mucin-like, hormone							140.0	134.0	136.0					19																	6906479		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6906479G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.985G>T	19.37:g.6906479G>T	ENSP00000311545:p.Asp329Tyr					EMR1_uc010dvc.2_Missense_Mutation_p.D329Y|EMR1_uc010dvb.2_Missense_Mutation_p.D277Y|EMR1_uc010xji.1_Missense_Mutation_p.D188Y|EMR1_uc010xjj.1_Missense_Mutation_p.D152Y	p.D329Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN			9	1023	+	all_hematologic(4;0.166)		329			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.985G>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	9.944	1.218422	0.22373	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78707	-1.17;-1.19;-1.2;-0.04;0.31	2.98	-4.22	0.03800	.	.	.	.	.	T	0.64907	0.2641	L	0.40543	1.245	0.09310	N	1	P;P;P;P;P	0.52577	0.953;0.904;0.927;0.954;0.881	P;P;B;P;B	0.48738	0.588;0.45;0.372;0.559;0.206	T	0.57946	-0.7723	9	0.02654	T	1	.	6.4188	0.21732	0.2627:0.1813:0.556:0.0	.	152;188;329;277;329	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Y	329;329;277;329;188;152	ENSP00000311545:D329Y;ENSP00000370811:D277Y;ENSP00000250572:D329Y;ENSP00000370814:D188Y;ENSP00000405974:D152Y	ENSP00000250572:D329Y	D	+	1	0	EMR1	6857479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-1.026000	0.03330	-1.267000	0.01435	GAT		PASS	0.393	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			27	45	27	45	---	---	---	---
ELAVL1	1994	broad.mit.edu	37	19	8045966	8045966	+	Splice_Site	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:8045966C>A	ENST00000407627.2	-	3	406		c.e3+1		ELAVL1_ENST00000351593.5_Splice_Site|ELAVL1_ENST00000593807.1_Splice_Site|ELAVL1_ENST00000596459.1_Splice_Site	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1						3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GATCCCTTTACCTTAATGGTT	0.557																																						uc002mjb.2																			2	Unknown(2)		lung(1)|endometrium(1)		0						c.e3+1		ELAV-like 1							178.0	131.0	147.0					19																	8045966		2203	4300	6503	SO:0001630	splice_region_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8045966C>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.276+1G>T	19.37:g.8045966C>A							p.K92_splice	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			3	443	-								B4DVB8|Q53XN6|Q9BTT1	Splice_Site	SNP	ENST00000407627.2	37	c.276_splice	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430534	0.83776	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7568	0.85502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELAVL1	7951966	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.228000	0.78079	2.617000	0.88574	0.655000	0.94253	.		PASS	0.557	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419	Intron	16	16	16	16	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8156451	8156451	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:8156451G>A	ENST00000600128.1	-	48	6343	c.5929C>T	c.(5929-5931)Ccc>Tcc	p.P1977S	FBN3_ENST00000270509.2_Missense_Mutation_p.P1977S|FBN3_ENST00000601739.1_Missense_Mutation_p.P1977S			Q75N90	FBN3_HUMAN	fibrillin 3	1977	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1977S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGTTGGGCTCCTCTGAG	0.592																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(5929-5931)CCC>TCC		fibrillin 3 precursor							108.0	94.0	98.0					19																	8156451		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8156451G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5929C>T	19.37:g.8156451G>A	ENSP00000470498:p.Pro1977Ser					FBN3_uc002mje.2_5'Flank	p.P1977S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			47	5950	-			1977			EGF-like 32; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5929C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542663	0.45280	.	.	ENSG00000142449	ENST00000270509	D	0.91686	-2.89	4.45	4.45	0.53987	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061993	0.64402	U	0.000003	D	0.93517	0.7931	L	0.33668	1.02	0.53005	D	0.999966	D	0.89917	1.0	D	0.91635	0.999	D	0.94069	0.7333	10	0.51188	T	0.08	.	17.0618	0.86549	0.0:0.0:1.0:0.0	.	1977	Q75N90	FBN3_HUMAN	S	1977	ENSP00000270509:P1977S	ENSP00000270509:P1977S	P	-	1	0	FBN3	8062451	1.000000	0.71417	0.751000	0.31187	0.119000	0.20118	4.963000	0.63694	2.015000	0.59207	0.655000	0.94253	CCC		PASS	0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		25	43	25	43	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8161784	8161784	+	Silent	SNP	C	C	G	rs80293030	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:8161784C>G	ENST00000600128.1	-	43	5808	c.5394G>C	c.(5392-5394)tcG>tcC	p.S1798S	FBN3_ENST00000270509.2_Silent_p.S1798S|FBN3_ENST00000601739.1_Silent_p.S1798S			Q75N90	FBN3_HUMAN	fibrillin 3	1798	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1798S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCCGCCTGGCGACAGTTTGT	0.617																																						uc002mjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(5392-5394)TCG>TCC		fibrillin 3 precursor							79.0	75.0	76.0					19																	8161784		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8161784C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5394G>C	19.37:g.8161784C>G							p.S1798S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			42	5415	-			1798			EGF-like 27; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.5394G>C	CCDS12196.1																																																																																				PASS	0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		12	37	12	37	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9061578	9061578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:9061578G>T	ENST00000397910.4	-	3	26071	c.25868C>A	c.(25867-25869)tCa>tAa	p.S8623*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8625	Ser-rich.|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.S8623*(2)|p.S4256*(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						TATTTCAGCTGAGGTGCTGCT	0.458																																						uc002mkp.2																			3	Substitution - Nonsense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25867-25869)TCA>TAA		mucin 16							141.0	132.0	135.0					19																	9061578		1967	4159	6126	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061578G>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.25868C>A	19.37:g.9061578G>T	ENSP00000381008:p.Ser8623*						p.S8623*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	26072	-			8625			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.25868C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	59	39.980832	0.99985	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.23	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.3182	0.04204	0.3044:0.0:0.4561:0.2394	.	.	.	.	X	8623	.	ENSP00000381008:S8623X	S	-	2	0	MUC16	8922578	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.215000	0.17562	-0.234000	0.09782	-1.585000	0.00851	TCA		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	79	5	79	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089069	9089069	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:9089069G>C	ENST00000397910.4	-	1	2949	c.2746C>G	c.(2746-2748)Cta>Gta	p.L916V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	916	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.L916V(2)		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						TCACTCACTAGGTGGGATGAA	0.522																																						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.(2746-2748)CTA>GTA		mucin 16							91.0	93.0	92.0					19																	9089069		1990	4167	6157	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089069G>C	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.2746C>G	19.37:g.9089069G>C	ENSP00000381008:p.Leu916Val						p.L916V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2950	-			916			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2746C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.068	0.010425	0.07912	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.55	-0.9	0.10544	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.31730	0.337	B	0.24974	0.057	T	0.46062	-0.9218	8	0.87932	D	0	.	2.1273	0.03741	0.2064:0.0:0.4879:0.3057	.	916	B5ME49	.	V	916	ENSP00000381008:L916V	ENSP00000381008:L916V	L	-	1	2	MUC16	8950069	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	-0.027000	0.12371	-0.163000	0.10946	0.205000	0.17691	CTA		PASS	0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	28	6	28	---	---	---	---
ZNF443	10224	broad.mit.edu	37	19	12541030	12541030	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:12541030C>A	ENST00000301547.5	-	4	2153	c.1956G>T	c.(1954-1956)aaG>aaT	p.K652N	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	652					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K652N(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCCCACATTCCTTACATTCAT	0.383																																						uc002mtu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1954-1956)AAG>AAT		zinc finger protein 443							119.0	123.0	121.0					19																	12541030		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541030C>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1956G>T	19.37:g.12541030C>A	ENSP00000301547:p.Lys652Asn						p.K652N	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	2154	-			652			C2H2-type 19.			Missense_Mutation	SNP	ENST00000301547.5	37	c.1956G>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	1.193	-0.634732	0.03584	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.19669	2.13	1.06	-1.16	0.09678	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	N	0.05467	-0.045	0.09310	N	1	B	0.18013	0.025	B	0.18561	0.022	T	0.38845	-0.9642	9	0.07325	T	0.83	.	2.9244	0.05779	0.2319:0.4741:0.0:0.2939	.	652	Q9Y2A4	ZN443_HUMAN	N	652;624	ENSP00000301547:K652N	ENSP00000301547:K652N	K	-	3	2	ZNF443	12402030	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-8.078000	0.00025	-0.328000	0.08539	0.194000	0.17425	AAG		PASS	0.383	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		5	63	5	63	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12830132	12830132	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:12830132G>C	ENST00000592287.1	-	3	226	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	TNPO2_ENST00000425528.1_Missense_Mutation_p.Q40E|TNPO2_ENST00000441499.1_Missense_Mutation_p.Q40E|TNPO2_ENST00000450764.2_Missense_Mutation_p.Q40E|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000588216.1_Missense_Mutation_p.Q40E|TNPO2_ENST00000356861.5_Missense_Mutation_p.Q40E	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	40	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.Q40E(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCAGGAAACTGATTGAGTTGT	0.512																																						uc002muo.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(118-120)CAG>GAG		transportin 2 (importin 3, karyopherin beta 2b)							164.0	177.0	173.0					19																	12830132		1955	4144	6099	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12830132G>C	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.118C>G	19.37:g.12830132G>C	ENSP00000468434:p.Gln40Glu					TNPO2_uc002mup.2_Missense_Mutation_p.Q132E|TNPO2_uc002muq.2_Missense_Mutation_p.Q40E|TNPO2_uc002mur.2_Missense_Mutation_p.Q40E	p.Q40E	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			3	303	-			40			Importin N-terminal.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.118C>G	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.853053	0.51270	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (2);	0.056268	0.64402	D	0.000001	T	0.58380	0.2118	L	0.49571	1.57	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.53599	-0.8416	10	0.33940	T	0.23	-18.0337	17.7517	0.88436	0.0:0.0:1.0:0.0	.	204;40	Q4LE60;O14787	.;TNPO2_HUMAN	E	204;40;40;40;40;40;40	ENSP00000407182:Q40E;ENSP00000389648:Q40E;ENSP00000397379:Q40E;ENSP00000349321:Q40E	ENSP00000349321:Q40E	Q	-	1	0	TNPO2	12691132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.964000	0.93389	2.564000	0.86499	0.650000	0.86243	CAG		PASS	0.512	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		7	27	7	27	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13397689	13397689	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:13397689G>C	ENST00000360228.5	-	20	3180	c.3181C>G	c.(3181-3183)Ctg>Gtg	p.L1061V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1062V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1062					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.L1062V(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTCTGCCAGGGGTGGGTCT	0.672																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(3184-3186)CTG>GTG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						19.0	22.0	21.0					19																	13397689		1886	4069	5955	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13397689G>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3181C>G	19.37:g.13397689G>C	ENSP00000353362:p.Leu1061Val					CACNA1A_uc010dzc.2_Missense_Mutation_p.L587V|CACNA1A_uc002mwy.3_Missense_Mutation_p.L1061V|CACNA1A_uc010xne.1_Missense_Mutation_p.L590V	p.L1062V	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		20	3420	-			1062			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.3184C>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513570	0.27123	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95518	-3.73	5.19	4.16	0.48862	.	1.568190	0.03832	N	0.269211	D	0.92315	0.7562	L	0.36672	1.1	0.22835	N	0.998676	P;B;B	0.35174	0.488;0.43;0.001	B;B;B	0.35859	0.142;0.212;0.001	D	0.83522	0.0086	10	0.19590	T	0.45	.	8.4416	0.32818	0.0866:0.1585:0.7548:0.0	.	1062;1065;1061	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	V	1061;1065;1062;1062	ENSP00000353362:L1061V	ENSP00000317661:L1062V	L	-	1	2	CACNA1A	13258689	0.998000	0.40836	0.981000	0.43875	0.935000	0.57460	2.860000	0.48372	2.427000	0.82271	0.555000	0.69702	CTG		PASS	0.672	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		8	11	8	11	---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15535691	15535691	+	Silent	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:15535691G>T	ENST00000389282.4	-	8	4546	c.4333C>A	c.(4333-4335)Cgg>Agg	p.R1445R	WIZ_ENST00000545156.1_Silent_p.R759R|WIZ_ENST00000599910.2_Silent_p.R762R|WIZ_ENST00000599686.3_Silent_p.R629R|WIZ_ENST00000263381.7_Silent_p.R588R			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1445					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R1445R(1)|p.R588R(1)|p.R759R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TTCTGGGGCCGGTGTTTGATC	0.667																																						uc002nbc.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(2284-2286)CGG>AGG		widely-interspaced zinc finger motifs							12.0	16.0	15.0					19																	15535691		1976	4135	6111	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15535691G>T	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4333C>A	19.37:g.15535691G>T						WIZ_uc002nba.3_Silent_p.R629R|WIZ_uc002nbb.3_Silent_p.R588R	p.R762R	NM_021241	NP_067064	O95785	WIZ_HUMAN			6	2307	-			1445					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.2284C>A																																																																																					PASS	0.667	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		3	4	3	4	---	---	---	---
EPS15L1	58513	broad.mit.edu	37	19	16506271	16506271	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:16506271G>C	ENST00000248070.6	-	17	1938	c.1799C>G	c.(1798-1800)cCt>cGt	p.P600R	EPS15L1_ENST00000594975.1_Missense_Mutation_p.P602R|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P600R|EPS15L1_ENST00000455140.2_Missense_Mutation_p.P600R	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	600					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P600R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATTTTTGAAAGGATCATCCTA	0.373																																						uc002ndz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1798-1800)CCT>CGT		epidermal growth factor receptor pathway							144.0	150.0	148.0					19																	16506271		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16506271G>C	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1799C>G	19.37:g.16506271G>C	ENSP00000248070:p.Pro600Arg					EPS15L1_uc002ndx.2_Missense_Mutation_p.P600R|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.P490R|EPS15L1_uc010xpf.1_Missense_Mutation_p.P503R|EPS15L1_uc002nea.1_Missense_Mutation_p.P600R|EPS15L1_uc010eah.1_Missense_Mutation_p.P602R	p.P600R	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			17	1805	-			600					A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.1799C>G	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084710	0.76642	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.34472	1.84;1.81;1.36	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	N	0.19112	0.55	0.80722	D	1	P;D;P;P	0.56035	0.565;0.974;0.902;0.692	B;P;B;P	0.45138	0.115;0.467;0.445;0.471	T	0.03259	-1.1055	10	0.15952	T	0.53	.	17.1238	0.86709	0.0:0.0:1.0:0.0	.	602;600;600;600	A8K5P4;A2RRF3;Q9UBC2;G3V0H2	.;.;EP15R_HUMAN;.	R	600	ENSP00000393313:P600R;ENSP00000248070:P600R;ENSP00000440103:P600R	ENSP00000248070:P600R	P	-	2	0	EPS15L1	16367271	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.232000	0.95325	2.290000	0.77057	0.555000	0.69702	CCT		PASS	0.373	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		22	100	22	100	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17949144	17949144	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:17949144C>A	ENST00000527670.1	-	10	1526	c.1497G>T	c.(1495-1497)ttG>ttT	p.L499F	JAK3_ENST00000458235.1_Missense_Mutation_p.L499F|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.L499F			P52333	JAK3_HUMAN	Janus kinase 3	499					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.L499F(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGGGCTGAACCAAGGATGATG	0.517		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1495-1497)TTG>TTT		Janus kinase 3							231.0	209.0	216.0					19																	17949144		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17949144C>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1497G>T	19.37:g.17949144C>A	ENSP00000432511:p.Leu499Phe					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.L499F|JAK3_uc010xpx.1_3'UTR	p.L499F	NM_000215	NP_000206	P52333	JAK3_HUMAN			11	1597	-			499					Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1497G>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316695	0.40996	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.76316	-0.99;-0.99;-1.01	4.12	-8.24	0.01029	Protein kinase-like domain (1);	0.438594	0.23272	N	0.050009	T	0.49609	0.1567	N	0.08118	0	0.22305	N	0.999218	B;B	0.22414	0.069;0.065	B;B	0.25614	0.062;0.059	T	0.33214	-0.9877	10	0.45353	T	0.12	-0.317	8.6453	0.34003	0.1549:0.3707:0.4744:0.0	.	499;499	P52333-2;P52333	.;JAK3_HUMAN	F	499	ENSP00000391676:L499F;ENSP00000432511:L499F;ENSP00000436421:L499F	ENSP00000413248:L499F	L	-	3	2	JAK3	17810144	0.000000	0.05858	0.000000	0.03702	0.629000	0.37895	-3.858000	0.00349	-1.638000	0.01529	0.313000	0.20887	TTG		PASS	0.517	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		6	102	6	102	---	---	---	---
ZNF486	90649	broad.mit.edu	37	19	20308008	20308008	+	Silent	SNP	T	T	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:20308008T>C	ENST00000335117.8	+	4	546	c.489T>C	c.(487-489)ttT>ttC	p.F163F	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F163F(1)|p.F154F(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGAAAGTCTTTCATCAATTTT	0.313																																						uc002nou.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(487-489)TTT>TTC		zinc finger protein 486							48.0	54.0	52.0					19																	20308008		2156	4275	6431	SO:0001819	synonymous_variant	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308008T>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.489T>C	19.37:g.20308008T>C							p.F163F	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	546	+			163			C2H2-type 1; degenerate.		Q0VG00	Silent	SNP	ENST00000335117.8	37	c.489T>C	CCDS46029.1																																																																																				PASS	0.313	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		17	64	17	64	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154698	22154698	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:22154698T>A	ENST00000397126.4	-	4	3286	c.3138A>T	c.(3136-3138)gaA>gaT	p.E1046D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1046					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E918D(2)|p.E1046D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCTTATGTTCAGTAAGGC	0.438																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2752-2754)GAA>GAT		zinc finger protein 208							117.0	120.0	119.0					19																	22154698		2124	4248	6372	SO:0001583	missense	7757							g.chr19:22154698T>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3138A>T	19.37:g.22154698T>A	ENSP00000380315:p.Glu1046Asp					ZNF208_uc002nqo.1_Intron	p.E918D	NM_007153	NP_009084					6	2903	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2754A>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.365237	0.01235	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.36157	1.27	2.59	-5.18	0.02840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13756	0.0333	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	8	0.12103	T	0.63	.	1.6763	0.02822	0.3007:0.3759:0.1146:0.2088	.	918	O43345	ZN208_HUMAN	D	1046;918	ENSP00000380315:E1046D	ENSP00000380315:E1046D	E	-	3	2	ZNF208	21946538	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.199000	0.00076	-3.055000	0.00258	-0.779000	0.03376	GAA		PASS	0.438	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		42	62	42	62	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22939259	22939259	+	IGR	SNP	G	G	C	rs74170734		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:22939259G>C	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.P971R	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.P971R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTAGGGTTTCTTTCC	0.373																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2911-2913)CCC>CGC		zinc finger protein 99							32.0	44.0	40.0					19																	22939259		1946	4257	6203	SO:0001628	intergenic_variant	7652							g.chr19:22939259G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939259G>C							p.P971R	NM_001080409	NP_001073878					7	2912	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2912C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.11	1.838940	0.32513	.	.	ENSG00000213973	ENST00000397104	T	0.27890	1.64	1.17	-0.343	0.12632	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48409	0.1498	.	.	.	0.27378	N	0.955509	D	0.89917	1.0	D	0.79784	0.993	T	0.37526	-0.9702	8	0.87932	D	0	.	6.9071	0.24315	0.0:0.0:0.7249:0.2751	.	971	A8MXY4	ZNF99_HUMAN	R	971	ENSP00000380293:P971R	ENSP00000380293:P971R	P	-	2	0	ZNF99	22731099	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.374000	0.07484	-0.369000	0.08028	0.176000	0.17051	CCC		PASS	0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		10	22	10	22	---	---	---	---
ZNF114	163071	broad.mit.edu	37	19	48789340	48789340	+	Silent	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:48789340T>A	ENST00000595607.1	+	6	953	c.459T>A	c.(457-459)cgT>cgA	p.R153R	ZNF114_ENST00000600687.1_Silent_p.R153R|ZNF114_ENST00000597695.1_Silent_p.R119R|ZNF114_ENST00000315849.1_Silent_p.R153R			Q8NC26	ZN114_HUMAN	zinc finger protein 114	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R153R(1)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TCCTAACACGTGACTCAAGTA	0.408																																						uc002pil.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)CGT>CGA		zinc finger protein 114							75.0	68.0	70.0					19																	48789340		2203	4300	6503	SO:0001819	synonymous_variant	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48789340T>A	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.459T>A	19.37:g.48789340T>A						ZNF114_uc010elv.1_Silent_p.R153R|ZNF114_uc002pim.1_Silent_p.R153R|ZNF114_uc002pin.2_Silent_p.R119R	p.R153R	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	6	956	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	153					A8K6B0|Q08AQ6	Silent	SNP	ENST00000595607.1	37	c.459T>A	CCDS12713.1																																																																																				PASS	0.408	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		29	29	29	29	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274370	51274370	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:51274370C>T	ENST00000270590.4	+	1	650	c.513C>T	c.(511-513)gcC>gcT	p.A171A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	171					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A171A(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCCGCCGCCTTGTGCTCTG	0.592																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(511-513)GCC>GCT		G protein-coupled receptor 32							51.0	53.0	52.0					19																	51274370		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274370C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.513C>T	19.37:g.51274370C>T							p.A171A	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	513	+		all_neural(266;0.131)	171			Helical; Name=4; (Potential).		Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.513C>T	CCDS12801.1																																																																																				PASS	0.592	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			12	18	12	18	---	---	---	---
KLK6	5653	broad.mit.edu	37	19	51470440	51470440	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:51470440G>C	ENST00000376851.3	-	3	621	c.182C>G	c.(181-183)gCc>gGc	p.A61G	KLK6_ENST00000424910.2_Intron|KLK6_ENST00000376853.4_Missense_Mutation_p.A61G|KLK6_ENST00000310157.2_Missense_Mutation_p.A61G|KLK6_ENST00000391808.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK6_ENST00000594641.1_Missense_Mutation_p.A61G	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	61	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.A61G(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTTGCAGTGGGCAGCTGTGAG	0.537																																						uc002pui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GCC>GGC		kallikrein-related peptidase 6 isoform A							106.0	96.0	99.0					19																	51470440		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51470440G>C	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.182C>G	19.37:g.51470440G>C	ENSP00000366047:p.Ala61Gly					KLK6_uc010eoj.2_Missense_Mutation_p.A61G|KLK6_uc002puh.2_Missense_Mutation_p.A70G|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.A61G|KLK6_uc002pum.2_Intron	p.A61G	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	442	-		all_neural(266;0.026)	61			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.182C>G	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040566	0.75732	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000376853	D;D;D	0.96745	-4.11;-4.11;-2.47	4.31	4.31	0.51392	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36591	N	0.002512	D	0.97920	0.9316	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97919	1.0313	10	0.49607	T	0.09	.	14.6655	0.68904	0.0:0.0:1.0:0.0	.	61;61	E7ETY0;Q92876	.;KLK6_HUMAN	G	61	ENSP00000309148:A61G;ENSP00000366047:A61G;ENSP00000366049:A61G	ENSP00000309148:A61G	A	-	2	0	KLK6	56162252	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.806000	0.69150	2.393000	0.81446	0.555000	0.69702	GCC		PASS	0.537	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		15	12	15	12	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53994668	53994668	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:53994668G>A	ENST00000396403.4	+	4	1310	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	394					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.Q394Q(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CCTTCAGTCAGGAGTTAACCC	0.418																																						uc002qbu.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1180-1182)CAG>CAA		zinc finger protein 813							83.0	86.0	85.0					19																	53994668		2202	4300	6502	SO:0001819	synonymous_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994668G>A	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1182G>A	19.37:g.53994668G>A						ZNF813_uc010eqq.1_Intron	p.Q394Q	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1310	+			394			C2H2-type 7.			Silent	SNP	ENST00000396403.4	37	c.1182G>A	CCDS46172.1																																																																																				PASS	0.418	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		12	52	12	52	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56952833	56952833	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:56952833T>A	ENST00000504904.3	-	7	2250	c.1531A>T	c.(1531-1533)Agt>Tgt	p.S511C	ZNF667_ENST00000292069.6_Missense_Mutation_p.S511C|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.S639C			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	511					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.S511C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGGTGTGCACTCTGGCTGAAG	0.448																																						uc002qnd.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1531-1533)AGT>TGT		zinc finger protein 667							97.0	79.0	85.0					19																	56952833		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56952833T>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1531A>T	19.37:g.56952833T>A	ENSP00000439402:p.Ser511Cys					ZNF667_uc010etl.2_Missense_Mutation_p.S293C|ZNF667_uc002qne.2_Missense_Mutation_p.S511C|ZNF667_uc010etm.2_Missense_Mutation_p.S454C	p.S511C	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1693	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	511			C2H2-type 12.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.1531A>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.848031	0.32699	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.08102	3.13;3.13;3.13	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000229	T	0.19446	0.0467	M	0.67700	2.07	0.26452	N	0.97559	D;D	0.69078	0.997;0.997	P;P	0.55667	0.781;0.781	T	0.03534	-1.1027	10	0.46703	T	0.11	-10.9285	12.1911	0.54273	0.0:0.0:0.0:1.0	.	639;511	E7EPS0;Q5HYK9	.;ZN667_HUMAN	C	639;511;511;293;226	ENSP00000344699:S639C;ENSP00000439402:S511C;ENSP00000292069:S511C	ENSP00000292069:S511C	S	-	1	0	ZNF667	61644645	0.001000	0.12720	0.991000	0.47740	0.016000	0.09150	1.068000	0.30629	1.973000	0.57446	0.533000	0.62120	AGT		PASS	0.448	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		19	13	19	13	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58187556	58187556	+	Nonsense_Mutation	SNP	G	G	T	rs374947780		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr19:58187556G>T	ENST00000318203.5	+	3	740	c.43G>T	c.(43-45)Gag>Tag	p.E15*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	15					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E15*(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAACCATCCGAGAATAATCT	0.393																																						uc002qpu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(43-45)GAG>TAG		zinc finger and SCAN domain containing 4							61.0	60.0	60.0					19																	58187556		2203	4300	6503	SO:0001587	stop_gained	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187556G>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.43G>T	19.37:g.58187556G>T	ENSP00000321963:p.Glu15*						p.E15*	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	740	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	15					Q3MIQ2	Nonsense_Mutation	SNP	ENST00000318203.5	37	c.43G>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	38	7.023986	0.98010	.	.	ENSG00000180532	ENST00000318203	.	.	.	3.97	-1.03	0.10102	.	1.906220	0.02630	N	0.104223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	1.2286	0.3198	0.00301	0.2938:0.2395:0.128:0.3388	.	.	.	.	X	15	.	ENSP00000321963:E15X	E	+	1	0	ZSCAN4	62879368	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.507000	0.06352	-0.238000	0.09724	0.655000	0.94253	GAG		PASS	0.393	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		4	53	4	53	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2597739	2597739	+	Silent	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:2597739A>T	ENST00000358864.1	+	16	1977	c.1962A>T	c.(1960-1962)ccA>ccT	p.P654P	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	654					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.P654P(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTATGCTCCAGGCCTGGTGG	0.567																																						uc002wgf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1960-1962)CCA>CCT		transmembrane cochlear-expressed protein 2							113.0	94.0	100.0					20																	2597739		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2597739A>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1962A>T	20.37:g.2597739A>T						TMC2_uc002wgg.1_Silent_p.P638P	p.P654P	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			16	1977	+			654			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1962A>T	CCDS13029.2																																																																																				PASS	0.567	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			18	16	18	16	---	---	---	---
BMP2	650	broad.mit.edu	37	20	6759229	6759229	+	Silent	SNP	G	G	T	rs185968516		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:6759229G>T	ENST00000378827.4	+	3	1903	c.684G>T	c.(682-684)gtG>gtT	p.V228V		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	228					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)	p.V228V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GATTCGTGGTGGAAGTGGCCC	0.522																																						uc002wmu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(682-684)GTG>GTT		bone morphogenetic protein 2 preproprotein	Simvastatin(DB00641)						55.0	47.0	49.0					20																	6759229		2203	4300	6503	SO:0001819	synonymous_variant	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6759229G>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.684G>T	20.37:g.6759229G>T							p.V228V	NM_001200	NP_001191	P12643	BMP2_HUMAN			3	1469	+			228						Silent	SNP	ENST00000378827.4	37	c.684G>T	CCDS13099.1																																																																																				PASS	0.522	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			4	18	4	18	---	---	---	---
DTD1	92675	broad.mit.edu	37	20	18576691	18576691	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:18576691G>T	ENST00000377452.3	+	3	356	c.176G>T	c.(175-177)aGt>aTt	p.S59I	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	59					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.S59I(1)		large_intestine(4)|lung(1)|ovary(2)	7						GAGGATGAGAGTGGGAAGCAC	0.498																																						uc002wrf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(175-177)AGT>ATT		D-tyrosyl-tRNA deacylase 1							147.0	123.0	131.0					20																	18576691		2203	4300	6503	SO:0001583	missense	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18576691G>T	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.176G>T	20.37:g.18576691G>T	ENSP00000366672:p.Ser59Ile						p.S59I	NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN			3	337	+			59					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	c.176G>T	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531480	0.64972	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.83	4.86	0.63082	D-Tyr tRNAtyr deacylase-like domain (2);	0.163216	0.64402	D	0.000003	T	0.70596	0.3242	M	0.82132	2.575	0.45129	D	0.998142	P	0.43750	0.816	P	0.47430	0.547	T	0.74636	-0.3599	9	0.59425	D	0.04	-5.9412	13.1787	0.59642	0.0795:0.0:0.9205:0.0	.	59	Q8TEA8	DTD1_HUMAN	I	59	.	ENSP00000366672:S59I	S	+	2	0	DTD1	18524691	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.332000	0.52083	1.389000	0.46526	0.655000	0.94253	AGT		PASS	0.498	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		29	17	29	17	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20269413	20269413	+	Missense_Mutation	SNP	G	G	A	rs541215562		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:20269413G>A	ENST00000245957.5	+	23	3033	c.2957G>A	c.(2956-2958)aGa>aAa	p.R986K	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		986								p.R986K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTCTCCAATAGATACTACTCA	0.458																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2956-2958)AGA>AAA		hypothetical protein LOC26074							104.0	95.0	98.0					20																	20269413		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269413G>A																												ENST00000245957.5:c.2957G>A	20.37:g.20269413G>A	ENSP00000245957:p.Arg986Lys					C20orf26_uc002wrw.2_Intron	p.R986K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	3033	+			986					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2957G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634646	0.47049	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.41758	0.99	5.75	4.78	0.61160	.	0.119177	0.52532	N	0.000071	T	0.29223	0.0727	L	0.28274	0.84	0.80722	D	1	B	0.18166	0.026	B	0.19946	0.027	T	0.07214	-1.0784	10	0.33141	T	0.24	.	9.668	0.39996	0.0756:0.0:0.7852:0.1392	.	986	Q8NHU2	CT026_HUMAN	K	926;952;986	ENSP00000245957:R986K	ENSP00000245957:R986K	R	+	2	0	C20orf26	20217413	1.000000	0.71417	0.916000	0.36221	0.950000	0.60333	3.633000	0.54295	1.381000	0.46364	0.650000	0.86243	AGA		PASS	0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			28	19	28	19	---	---	---	---
CSTL1	128817	broad.mit.edu	37	20	23424661	23424661	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:23424661C>G	ENST00000246020.2	+	2	330	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	CSTL1_ENST00000347397.1_Missense_Mutation_p.Q104E			Q9H114	CST1L_HUMAN	cystatin-like 1	104						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.Q104E(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CTGCCCCCTGCAAAGCAAGAA	0.468																																						uc002wte.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CAA>GAA		cystatin-like 1 precursor							111.0	95.0	101.0					20																	23424661		2203	4300	6503	SO:0001583	missense	128817					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23424661C>G	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.310C>G	20.37:g.23424661C>G	ENSP00000246020:p.Gln104Glu					CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	p.Q104E	NM_138283	NP_612140	Q9H114	CST1L_HUMAN			3	556	+	Colorectal(13;0.0993)|Lung NSC(19;0.235)		104					Q17RA8|Q64FF7	Missense_Mutation	SNP	ENST00000246020.2	37	c.310C>G	CCDS13153.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384092	0.25031	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.25250	1.81;1.81	3.92	3.92	0.45320	Proteinase inhibitor I25, cystatin (2);	0.000000	0.40302	N	0.001132	T	0.48822	0.1521	M	0.81942	2.565	0.23356	N	0.997848	D	0.57257	0.979	D	0.71414	0.973	T	0.31475	-0.9942	10	0.38643	T	0.18	-18.7004	11.7363	0.51767	0.0:1.0:0.0:0.0	.	104	Q9H114	CST1L_HUMAN	E	104	ENSP00000344907:Q104E;ENSP00000246020:Q104E	ENSP00000246020:Q104E	Q	+	1	0	CSTL1	23372661	0.966000	0.33281	0.490000	0.27465	0.061000	0.15899	2.706000	0.47135	2.459000	0.83118	0.563000	0.77884	CAA		PASS	0.468	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			31	15	31	15	---	---	---	---
MYLK2	85366	broad.mit.edu	37	20	30409459	30409459	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:30409459C>A	ENST00000375994.2	+	3	964	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	MYLK2_ENST00000375985.4_Missense_Mutation_p.Q231K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	231					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.Q231K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GATTGAGTTCCAGGCTGTTCC	0.607																																						uc002wwq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(691-693)CAG>AAG		skeletal myosin light chain kinase							93.0	102.0	99.0					20																	30409459		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409459C>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.691C>A	20.37:g.30409459C>A	ENSP00000365162:p.Gln231Lys						p.Q231K	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	793	+			231					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.691C>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440811	0.25900	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67345	-0.26;-0.26	4.58	3.64	0.41730	.	.	.	.	.	T	0.58075	0.2097	M	0.65975	2.015	0.30742	N	0.746037	B	0.14438	0.01	B	0.14023	0.01	T	0.53099	-0.8486	9	0.07644	T	0.81	.	8.2426	0.31669	0.0:0.8924:0.0:0.1076	.	231	Q9H1R3	MYLK2_HUMAN	K	231	ENSP00000365162:Q231K;ENSP00000365152:Q231K	ENSP00000365152:Q231K	Q	+	1	0	MYLK2	29873120	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.304000	0.33482	1.170000	0.42753	0.561000	0.74099	CAG		PASS	0.607	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		5	52	5	52	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36874360	36874360	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:36874360G>T	ENST00000279024.4	-	2	443	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	58								p.L58M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCTCACACAGGCGCTTGGCA	0.587																																						uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(172-174)CTG>ATG		hypothetical protein LOC85449							71.0	61.0	65.0					20																	36874360		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36874360G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.172C>A	20.37:g.36874360G>T	ENSP00000279024:p.Leu58Met					KIAA1755_uc002xhz.1_Missense_Mutation_p.L58M	p.L58M	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			2	444	-		Myeloproliferative disorder(115;0.00874)	58					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.172C>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607974	0.66558	.	.	ENSG00000149633	ENST00000279024	T	0.12465	2.68	5.51	3.43	0.39272	.	0.000000	0.38605	N	0.001630	T	0.30008	0.0751	M	0.70275	2.135	0.38533	D	0.94902	D	0.89917	1.0	D	0.79108	0.992	T	0.09862	-1.0655	10	0.72032	D	0.01	.	5.482	0.16729	0.0764:0.1399:0.6392:0.1444	.	58	Q5JYT7	K1755_HUMAN	M	58	ENSP00000279024:L58M	ENSP00000279024:L58M	L	-	1	2	KIAA1755	36307774	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.832000	0.27490	1.454000	0.47793	0.655000	0.94253	CTG		PASS	0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		5	29	5	29	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408097	50408097	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:50408097C>A	ENST00000217086.4	-	2	1036	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	SALL4_ENST00000395997.3_Missense_Mutation_p.G309W|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	309					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G309W(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTGCCAGCCCTGGGGACAGG	0.632																																						uc002xwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(925-927)GGG>TGG		sal-like 4							56.0	51.0	53.0					20																	50408097		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408097C>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.925G>T	20.37:g.50408097C>A	ENSP00000217086:p.Gly309Trp					SALL4_uc010gii.2_Missense_Mutation_p.G309W|SALL4_uc002xwi.3_Intron	p.G309W	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1026	-			309					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.925G>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159387	0.38119	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.10668	2.85;3.1	5.29	5.29	0.74685	.	0.000000	0.44483	D	0.000442	T	0.30978	0.0782	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.98;1.0	T	0.01235	-1.1410	10	0.72032	D	0.01	-23.573	18.5316	0.90995	0.0:1.0:0.0:0.0	.	309;309	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	W	309	ENSP00000217086:G309W;ENSP00000379319:G309W	ENSP00000217086:G309W	G	-	1	0	SALL4	49841504	0.980000	0.34600	0.951000	0.38953	0.375000	0.29983	3.917000	0.56424	2.466000	0.83321	0.655000	0.94253	GGG		PASS	0.632	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	11	7	11	---	---	---	---
NELFCD	51497	broad.mit.edu	37	20	57564617	57564617	+	Silent	SNP	G	G	T	rs543319457	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:57564617G>T	ENST00000344018.3	+	6	633	c.606G>T	c.(604-606)tcG>tcT	p.S202S	NELFCD_ENST00000602795.1_Silent_p.S211S			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	202					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.S202S(1)									AAGTGTTCTCGAGAGTGCTCC	0.463																																						uc002yag.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(604-606)TCG>TCT		TH1-like protein							175.0	176.0	175.0					20																	57564617		2203	4300	6503	SO:0001819	synonymous_variant	51497				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	g.chr20:57564617G>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.606G>T	20.37:g.57564617G>T						TH1L_uc010zzu.1_Silent_p.S202S|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S202S	p.S202S	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Colorectal(105;0.109)		6	633	+	all_lung(29;0.00711)		202					B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.606G>T																																																																																					PASS	0.463	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		8	155	8	155	---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58564203	58564203	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:58564203C>A	ENST00000244047.5	+	9	1579	c.1268C>A	c.(1267-1269)cCa>cAa	p.P423Q	CDH26_ENST00000348616.4_Missense_Mutation_p.P423Q			Q8IXH8	CAD26_HUMAN	cadherin 26	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P423Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCCATGGATCCAGACAGCCAG	0.532																																						uc002ybe.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(1267-1269)CCA>CAA		cadherin-like 26 isoform a							131.0	157.0	148.0					20																	58564203		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564203C>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1268C>A	20.37:g.58564203C>A	ENSP00000244047:p.Pro423Gln					CDH26_uc002ybf.1_Missense_Mutation_p.P3Q|CDH26_uc010zzy.1_RNA	p.P423Q	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1568	+	all_lung(29;0.00963)		423			Extracellular (Potential).|Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1268C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.196614|3.196614	0.58126|0.58126	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.61980|.	0.06;0.06|.	5.26|5.26	3.12|3.12	0.35913|0.35913	.|.	0.240797|.	0.35291|.	N|.	0.003311|.	T|T	0.65491|0.65491	0.2696|0.2696	M|M	0.84948|0.84948	2.725|2.725	0.30797|0.30797	N|N	0.740309|0.740309	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.66488|0.66488	-0.5911|-0.5911	10|5	0.87932|.	D|.	0|.	.|.	9.1829|9.1829	0.37152|0.37152	0.0:0.8131:0.0:0.1869|0.0:0.8131:0.0:0.1869	.|.	423|.	Q8IXH8-4|.	.|.	Q|K	423|15	ENSP00000244047:P423Q;ENSP00000339390:P423Q|.	ENSP00000244047:P423Q|.	P|Q	+|+	2|1	0|0	CDH26|CDH26	57997598|57997598	0.975000|0.975000	0.34042|0.34042	0.021000|0.021000	0.16686|0.16686	0.023000|0.023000	0.10783|0.10783	2.180000|2.180000	0.42537|0.42537	0.585000|0.585000	0.29608|0.29608	0.655000|0.655000	0.94253|0.94253	CCA|CAG		PASS	0.532	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		6	144	6	144	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62660759	62660759	+	Intron	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr20:62660759G>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Nonsense_Mutation_p.E781*|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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.E821*(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)					CATCTTCCTCGAGGCAAGGCC	0.572																																						uc002yho.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2461-2463)GAG>TAG		PRP6 pre-mRNA processing factor 6 homolog							111.0	105.0	107.0					20																	62660759		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62660759G>T	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.4+19298C>A	20.37:g.62660759G>T						PRPF6_uc002yhp.2_Nonsense_Mutation_p.E781*	p.E821*	NM_012469	NP_036601	O94906	PRP6_HUMAN			19	2629	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		821					Q08AK9|Q9ULM4	Nonsense_Mutation	SNP	ENST00000450537.1	37	c.2461G>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	40	8.170125	0.98688	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-37.1377	19.2366	0.93862	0.0:0.0:1.0:0.0	.	.	.	.	X	821;781	.	ENSP00000266079:E821X	E	+	1	0	PRPF6	62131203	1.000000	0.71417	0.983000	0.44433	0.743000	0.42351	9.692000	0.98682	2.626000	0.88956	0.655000	0.94253	GAG		PASS	0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		4	47	4	47	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10944758	10944758	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr21:10944758T>A	ENST00000361285.4	-	11	805	c.476A>T	c.(475-477)aAc>aTc	p.N159I	TPTE_ENST00000342420.5_Missense_Mutation_p.N121I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.N141I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	159					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N159I(1)|p.N141I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTAAAATGTTAAATAAGTC	0.318																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(475-477)AAC>ATC		transmembrane phosphatase with tensin homology							118.0	129.0	125.0					21																	10944758		2203	4296	6499	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944758T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.476A>T	21.37:g.10944758T>A	ENSP00000355208:p.Asn159Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N141I|TPTE_uc002yir.1_Missense_Mutation_p.N121I|TPTE_uc010gkv.1_Missense_Mutation_p.N21I	p.N159I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	844	-			159					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.476A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.17	1.856140	0.32791	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99245	-5.62;-5.62;-5.62	2.31	2.31	0.28768	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99155	0.9708	M	0.83774	2.66	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.99282	1.0896	10	0.87932	D	0	-34.0326	6.5921	0.22651	0.0:0.0:0.0:1.0	.	121;141;159	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	141;159;121	ENSP00000298232:N141I;ENSP00000355208:N159I;ENSP00000344441:N121I	ENSP00000298232:N141I	N	-	2	0	TPTE	9966629	0.998000	0.40836	0.447000	0.26932	0.339000	0.28857	4.507000	0.60434	1.303000	0.44873	0.163000	0.16589	AAC		PASS	0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			14	68	14	68	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33371371	33371371	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr21:33371371G>T	ENST00000270112.2	+	11	2379	c.2019G>T	c.(2017-2019)agG>agT	p.R673S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	673					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R673S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGATGTTAAGGAAGCGCCATC	0.612																																						uc002yph.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|skin(1)	2						c.(2017-2019)AGG>AGT		hormonally upregulated Neu-associated kinase							56.0	62.0	60.0					21																	33371371		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371371G>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2019G>T	21.37:g.33371371G>T	ENSP00000270112:p.Arg673Ser						p.R673S	NM_014586	NP_055401	P57058	HUNK_HUMAN			11	2379	+			673						Missense_Mutation	SNP	ENST00000270112.2	37	c.2019G>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536186	0.45176	.	.	ENSG00000142149	ENST00000270112	T	0.73152	-0.72	4.21	2.14	0.27477	.	0.183333	0.40064	N	0.001185	T	0.71821	0.3385	L	0.29908	0.895	0.44762	D	0.997769	D	0.63880	0.993	D	0.72338	0.977	T	0.70403	-0.4881	10	0.48119	T	0.1	-24.9214	9.6595	0.39947	0.0913:0.1474:0.7614:0.0	.	673	P57058	HUNK_HUMAN	S	673	ENSP00000270112:R673S	ENSP00000270112:R673S	R	+	3	2	HUNK	32293242	1.000000	0.71417	0.985000	0.45067	0.330000	0.28571	1.474000	0.35398	0.943000	0.37553	0.591000	0.81541	AGG		PASS	0.612	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		13	27	13	27	---	---	---	---
IFNAR1	3454	broad.mit.edu	37	21	34715845	34715845	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr21:34715845G>T	ENST00000270139.3	+	5	688	c.536G>T	c.(535-537)aGg>aTg	p.R179M	IFNAR1_ENST00000442357.2_Missense_Mutation_p.R179M|IFNAR1_ENST00000416947.2_Missense_Mutation_p.R110M	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	179	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)	p.R179M(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TTATAGGAAAGGATTGAAAAT	0.284																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	uc002yrn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(535-537)AGG>ATG		interferon-alpha receptor 1 precursor	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						47.0	52.0	50.0					21																	34715845		2199	4292	6491	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34715845G>T		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.536G>T	21.37:g.34715845G>T	ENSP00000270139:p.Arg179Met					IFNAR1_uc011adv.1_Missense_Mutation_p.R110M	p.R179M	NM_000629	NP_000620	P17181	INAR1_HUMAN			5	683	+			179			Fibronectin type-III 1.|Extracellular (Potential).		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.536G>T	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485014	0.26598	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.31510	1.49;1.49;1.49	5.5	0.104	0.14531	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.497398	0.19081	N	0.123242	T	0.26991	0.0661	M	0.63428	1.95	0.09310	N	1	P	0.38800	0.648	B	0.41174	0.349	T	0.20371	-1.0277	10	0.72032	D	0.01	-1.5685	2.106	0.03691	0.1834:0.359:0.3214:0.1362	.	179	P17181	INAR1_HUMAN	M	110;179;179	ENSP00000395606:R110M;ENSP00000270139:R179M;ENSP00000407406:R179M	ENSP00000270139:R179M	R	+	2	0	IFNAR1	33637715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.698000	0.05092	0.005000	0.14708	-0.919000	0.02742	AGG		PASS	0.284	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			5	30	5	30	---	---	---	---
MX2	4600	broad.mit.edu	37	21	42771143	42771143	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr21:42771143G>T	ENST00000330714.3	+	10	1477	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	431					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q431H(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGTTTAATCAGGACATCGAAA	0.383																																						uc002yzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1291-1293)CAG>CAT		myxovirus resistance protein 2							71.0	74.0	73.0					21																	42771143		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42771143G>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1293G>T	21.37:g.42771143G>T	ENSP00000333657:p.Gln431His					MX2_uc002yzg.1_Missense_Mutation_p.Q154H|MX2_uc010gop.1_Intron	p.Q431H	NM_002463	NP_002454	P20592	MX2_HUMAN			10	1397	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	431					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1293G>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378552	0.24944	.	.	ENSG00000183486	ENST00000330714	T	0.74315	-0.83	3.96	1.06	0.20224	Dynamin central domain (1);	0.679651	0.14895	N	0.292162	T	0.69424	0.3109	M	0.61703	1.905	0.26252	N	0.978704	B	0.21309	0.054	B	0.34242	0.178	T	0.61598	-0.7030	10	0.44086	T	0.13	-2.6623	4.1814	0.10378	0.269:0.0:0.5655:0.1655	.	431	P20592	MX2_HUMAN	H	431	ENSP00000333657:Q431H	ENSP00000333657:Q431H	Q	+	3	2	MX2	41693013	0.785000	0.28726	0.008000	0.14137	0.986000	0.74619	0.325000	0.19628	0.079000	0.16929	0.491000	0.48974	CAG		PASS	0.383	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		5	63	5	63	---	---	---	---
TPST2	8459	broad.mit.edu	37	22	26937263	26937263	+	Missense_Mutation	SNP	C	C	A	rs142901851	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr22:26937263C>A	ENST00000338754.4	-	3	604	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	TPST2_ENST00000398110.2_Missense_Mutation_p.A112S|TPST2_ENST00000403880.1_Missense_Mutation_p.A112S	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	112					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.A112S(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGGACCAGGCCTGGCGCATG	0.687																																						uc003acv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(334-336)GCC>TCC		tyrosylprotein sulfotransferase 2							27.0	25.0	26.0					22																	26937263		2203	4298	6501	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937263C>A	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.334G>T	22.37:g.26937263C>A	ENSP00000339813:p.Ala112Ser					TPST2_uc003acw.2_Missense_Mutation_p.A112S|TPST2_uc003acx.2_Missense_Mutation_p.A112S|TPST2_uc011akf.1_Missense_Mutation_p.A112S	p.A112S	NM_003595	NP_003586	O60704	TPST2_HUMAN			2	502	-			112			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.334G>T	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	C	3.666	-0.068500	0.07228	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495;ENST00000454778	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.09	4.06	0.47325	Sulfotransferase domain (1);	0.075887	0.53938	N	0.000042	T	0.26882	0.0658	N	0.20766	0.605	0.53688	D	0.999977	B	0.09022	0.002	B	0.20384	0.029	T	0.05289	-1.0894	10	0.08837	T	0.75	-36.1797	13.9139	0.63885	0.1534:0.8466:0.0:0.0	.	112	O60704	TPST2_HUMAN	S	112;112;112;45;112;112	ENSP00000339813:A112S;ENSP00000381180:A112S;ENSP00000385192:A112S;ENSP00000403875:A112S;ENSP00000400357:A112S	ENSP00000339813:A112S	A	-	1	0	TPST2	25267263	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	2.708000	0.47152	1.129000	0.42072	0.609000	0.83330	GCC		PASS	0.687	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		5	9	5	9	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30035117	30035117	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr22:30035117C>A	ENST00000338641.4	+	3	720	c.279C>A	c.(277-279)acC>acA	p.T93T	NF2_ENST00000413209.2_Silent_p.T93T|NF2_ENST00000397789.3_Silent_p.T93T|NF2_ENST00000353887.4_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Silent_p.T93T|NF2_ENST00000403435.1_Silent_p.T93T|NF2_ENST00000361676.4_Silent_p.T51T|NF2_ENST00000334961.7_Intron|NF2_ENST00000403999.3_Silent_p.T93T	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	93	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.T93T(2)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.F94fs*27(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AACCAGTCACCTTTCACTTCT	0.433			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		8	Unknown(3)|Substitution - coding silent(2)|Complex - deletion inframe(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.H84_F100del(1)|p.V86_Q111>E(1)|p.F94fs*27(1)	lung(3)|soft_tissue(3)|stomach(1)|large_intestine(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						c.(277-279)ACC>ACA		neurofibromin 2 isoform 1							139.0	121.0	127.0					22																	30035117		2203	4300	6503	SO:0001819	synonymous_variant	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30035117C>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.279C>A	22.37:g.30035117C>A						NF2_uc003afy.3_Silent_p.T93T|NF2_uc003afz.3_Intron|NF2_uc003agf.3_Silent_p.T93T|NF2_uc003agb.3_Silent_p.T16T|NF2_uc003agc.3_Silent_p.T55T|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Silent_p.T93T|NF2_uc003aga.3_Silent_p.T51T|NF2_uc003agh.3_Intron|NF2_uc003agi.3_Intron|NF2_uc003agj.3_Silent_p.T93T|NF2_uc003agk.3_Silent_p.T55T	p.T93T	NM_000268	NP_000259	P35240	MERL_HUMAN			3	722	+			93			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Silent	SNP	ENST00000338641.4	37	c.279C>A	CCDS13861.1																																																																																				PASS	0.433	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		5	58	5	58	---	---	---	---
TEX33	339669	broad.mit.edu	37	22	37397983	37397983	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr22:37397983C>T	ENST00000405091.2	-	4	635	c.384G>A	c.(382-384)caG>caA	p.Q128Q	TEX33_ENST00000381821.1_Silent_p.Q128Q|TEX33_ENST00000402860.3_Silent_p.Q43Q			O43247	TEX33_HUMAN	testis expressed 33	128								p.Q43Q(1)									TCCTCTGGTCCTGAGCCCCCA	0.622																																						uc003aqf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)CAG>CAA		hypothetical protein LOC339669 isoform 1							112.0	70.0	84.0					22																	37397983		2203	4300	6503	SO:0001819	synonymous_variant	339669							g.chr22:37397983C>T	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.384G>A	22.37:g.37397983C>T						C22orf33_uc003aqe.2_Silent_p.Q43Q	p.Q128Q	NM_001163857	NP_001157329	O43247	EAN57_HUMAN			3	530	-			128					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	c.384G>A	CCDS54524.1																																																																																				PASS	0.622	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		4	8	4	8	---	---	---	---
NOL12	79159	broad.mit.edu	37	22	38084982	38084982	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr22:38084982G>T	ENST00000359114.4	+	4	434	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	122						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)	p.G122W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CCGGCTGCTCGGGCTGACCCC	0.647																																						uc003atp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)GGG>TGG		nucleolar protein 12							85.0	89.0	88.0					22																	38084982		2203	4300	6503	SO:0001583	missense	79159					nucleolus	rRNA binding	g.chr22:38084982G>T	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.364G>T	22.37:g.38084982G>T	ENSP00000352021:p.Gly122Trp					NOL12_uc011anm.1_Missense_Mutation_p.G122W|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR	p.G122W	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN			4	420	+	Melanoma(58;0.0574)		122						Missense_Mutation	SNP	ENST00000359114.4	37	c.364G>T	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437563	0.43224	.	.	ENSG00000256872	ENST00000359114	D	0.84223	-1.82	5.76	3.68	0.42216	.	0.214650	0.48767	D	0.000175	D	0.90868	0.7131	M	0.79011	2.435	0.45541	D	0.998496	D	0.69078	0.997	D	0.73380	0.98	D	0.90560	0.4515	10	0.87932	D	0	0.1775	10.3467	0.43909	0.0708:0.134:0.7953:0.0	.	122	Q9UGY1	NOL12_HUMAN	W	122	ENSP00000352021:G122W	ENSP00000352021:G122W	G	+	1	0	Z83844.2	36414928	1.000000	0.71417	0.036000	0.18154	0.092000	0.18411	5.206000	0.65192	0.790000	0.33803	-0.137000	0.14449	GGG		PASS	0.647	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		19	31	19	31	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42172170	42172170	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr22:42172170T>G	ENST00000401548.3	+	21	2649	c.2609T>G	c.(2608-2610)cTg>cGg	p.L870R	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.L188R|MEI1_ENST00000400107.1_Missense_Mutation_p.L238R	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.L876R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGACCTTCCTGAGGAGGAAT	0.552																																						uc003baz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2608-2610)CTG>CGG		meiosis defective 1							89.0	87.0	88.0					22																	42172170		1991	4169	6160	SO:0001583	missense	150365						binding	g.chr22:42172170T>G	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2609T>G	22.37:g.42172170T>G	ENSP00000384115:p.Leu870Arg					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.L256R|MEI1_uc003bbc.1_Missense_Mutation_p.L238R|MEI1_uc010gym.1_Missense_Mutation_p.L238R|MEI1_uc003bbd.1_Missense_Mutation_p.L113R|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA	p.L870R	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			21	2634	+			870						Missense_Mutation	SNP	ENST00000401548.3	37	c.2609T>G	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731230	0.48939	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.68765	-0.35;-0.29;1.21	5.8	4.76	0.60689	.	0.089199	0.47455	D	0.000231	T	0.77096	0.4080	M	0.61703	1.905	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.78314	0.975;0.976;0.991;0.983	T	0.78974	-0.1992	10	0.87932	D	0	-18.807	9.9842	0.41832	0.0:0.0801:0.0:0.9199	.	238;113;238;870	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	R	870;238;188	ENSP00000384115:L870R;ENSP00000382978:L238R;ENSP00000437436:L188R	ENSP00000382978:L238R	L	+	2	0	MEI1	40502116	0.987000	0.35691	0.984000	0.44739	0.325000	0.28411	3.022000	0.49659	2.213000	0.71641	0.528000	0.53228	CTG		PASS	0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		12	48	12	48	---	---	---	---
WNT7B	7477	broad.mit.edu	37	22	46327162	46327162	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr22:46327162C>T	ENST00000339464.4	-	3	760	c.386G>A	c.(385-387)aGc>aAc	p.S129N	WNT7B_ENST00000410058.1_Missense_Mutation_p.S129N|WNT7B_ENST00000410089.1_Missense_Mutation_p.S113N|WNT7B_ENST00000409496.3_Missense_Mutation_p.S133N	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	129					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.S129N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGCAGTTGCTCAGGTTCCC	0.682																																						uc003bgo.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(385-387)AGC>AAC		wingless-type MMTV integration site family,							40.0	38.0	38.0					22																	46327162		2203	4300	6503	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46327162C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.386G>A	22.37:g.46327162C>T	ENSP00000341032:p.Ser129Asn					WNT7B_uc010haa.2_Missense_Mutation_p.S133N	p.S129N	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	3	760	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	129					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.386G>A	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	12.75	2.031316	0.35797	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	3.31	2.27	0.28462	.	0.000000	0.85682	U	0.000000	T	0.81484	0.4832	M	0.71206	2.165	0.50467	D	0.999872	P;P	0.42296	0.775;0.775	P;P	0.57244	0.601;0.816	T	0.80795	-0.1223	10	0.56958	D	0.05	.	10.8331	0.46671	0.1901:0.8099:0.0:0.0	.	133;129	A8K0G1;P56706	.;WNT7B_HUMAN	N	129;113;133;129	ENSP00000341032:S129N;ENSP00000386781:S113N;ENSP00000386546:S133N;ENSP00000387217:S129N	ENSP00000341032:S129N	S	-	2	0	WNT7B	44705826	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	3.542000	0.53625	0.586000	0.29626	0.306000	0.20318	AGC		PASS	0.682	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		4	16	4	16	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50678788	50678788	+	Silent	SNP	C	C	A	rs574864438		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr22:50678788C>A	ENST00000248846.5	-	2	854	c.750G>T	c.(748-750)ccG>ccT	p.P250P	TUBGCP6_ENST00000439308.2_Silent_p.P250P			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	250					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.P250P(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GATCCACACTCGGTGGGACCT	0.547																																						uc003bkb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(748-750)CCG>CCT		tubulin, gamma complex associated protein 6							67.0	56.0	60.0					22																	50678788		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50678788C>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.750G>T	22.37:g.50678788C>A						TUBGCP6_uc010har.1_Silent_p.P250P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.P250P	p.P250P	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	2	1262	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	250					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.750G>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	2.944	-0.218236	0.06101	.	.	ENSG00000128159	ENST00000434349	.	.	.	5.12	1.75	0.24633	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.34880	D	0.744504	.	.	.	.	.	.	T	0.51834	-0.8655	4	.	.	.	.	6.0085	0.19559	0.0:0.5926:0.1405:0.2668	.	.	.	.	L	1	.	.	R	-	2	0	TUBGCP6	49020915	0.975000	0.34042	0.384000	0.26145	0.333000	0.28666	0.243000	0.18106	0.518000	0.28383	0.655000	0.94253	CGA		PASS	0.547	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		3	16	3	16	---	---	---	---
TMEM27	57393	broad.mit.edu	37	X	15657828	15657828	+	Silent	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:15657828C>A	ENST00000380342.3	-	5	624	c.369G>T	c.(367-369)ctG>ctT	p.L123L		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	123					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)	p.L123L(1)		endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TTAAAAATTCCAGAGTTTGGT	0.333																																						uc004cxc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(367-369)CTG>CTT		transmembrane protein 27 precursor							139.0	143.0	142.0					X																	15657828		2203	4300	6503	SO:0001819	synonymous_variant	57393				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity	g.chrX:15657828C>A	AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"""collectrin"""	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.369G>T	X.37:g.15657828C>A							p.L123L	NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN			5	625	-	Hepatocellular(33;0.183)		123			Extracellular (Potential).		B2R9M1|Q6UW07	Silent	SNP	ENST00000380342.3	37	c.369G>T	CCDS14170.1																																																																																				PASS	0.333	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055879.1	NM_020665		5	82	5	82	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27998521	27998521	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:27998521C>A	ENST00000441525.1	-	1	1045	c.931G>T	c.(931-933)Gtg>Ttg	p.V311L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	311								p.V311L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ATGGTGAACACAACGGCATCT	0.483																																						uc004dbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(931-933)GTG>TTG		DDB1 and CUL4 associated factor 8-like 1							87.0	75.0	79.0					X																	27998521		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998521C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.931G>T	X.37:g.27998521C>A	ENSP00000405222:p.Val311Leu						p.V311L	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1046	-			311			WD 3.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.931G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564251	0.65651	.	.	ENSG00000226372	ENST00000441525	D	0.82984	-1.67	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.88908	0.6565	M	0.83483	2.645	0.51482	D	0.999927	D	0.89917	1.0	D	0.91635	0.999	D	0.86803	0.1993	10	0.56958	D	0.05	-11.8534	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	311	A6NGE4	DC8L1_HUMAN	L	311	ENSP00000405222:V311L	ENSP00000405222:V311L	V	-	1	0	DCAF8L1	27908442	1.000000	0.71417	0.339000	0.25562	0.394000	0.30568	4.551000	0.60740	0.691000	0.31592	0.284000	0.19432	GTG		PASS	0.483	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		22	16	22	16	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34961693	34961693	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:34961693G>A	ENST00000329357.5	+	1	781	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	249	Pro-rich.							p.V249M(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATCTCCGCGTGGATCCTCC	0.627																																						uc004ddi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(745-747)GTG>ATG		hypothetical protein LOC170062							59.0	54.0	56.0					X																	34961693		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961693G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.745G>A	X.37:g.34961693G>A	ENSP00000328307:p.Val249Met						p.V249M	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	763	+			249			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.745G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089327	0.07097	.	.	ENSG00000189132	ENST00000329357	T	0.15952	2.38	0.235	-0.47	0.12131	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.35383	0.498	B	0.17098	0.017	T	0.24333	-1.0163	9	0.87932	D	0	.	5.5094	0.16872	0.0:0.6447:0.3553:0.0	.	249	Q8NA70	FA47B_HUMAN	M	249	ENSP00000328307:V249M	ENSP00000328307:V249M	V	+	1	0	FAM47B	34871614	0.079000	0.21365	0.000000	0.03702	0.000000	0.00434	-1.730000	0.01855	-0.761000	0.04670	-0.759000	0.03464	GTG		PASS	0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		27	17	27	17	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49957417	49957417	+	Silent	SNP	G	G	A			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:49957417G>A	ENST00000376056.2	-	5	2070	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	AKAP4_ENST00000376058.2_Silent_p.C266C|AKAP4_ENST00000358526.2_Silent_p.C649C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.C640C					A kinase (PRKA) anchor protein 4									p.C649C(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)					TCTCACCTTCGCATGGATCCT	0.463																																						uc004dow.1																			1	Substitution - coding silent(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(1945-1947)TGC>TGT		A-kinase anchor protein 4 isoform 1							150.0	113.0	126.0					X																	49957417		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957417G>A	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.1920C>T	X.37:g.49957417G>A						AKAP4_uc004dov.1_Silent_p.C266C|AKAP4_uc010njp.1_Silent_p.C471C|AKAP4_uc004dou.1_Silent_p.C640C	p.C649C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	2071	-	Ovarian(276;0.236)		649						Silent	SNP	ENST00000376056.2	37	c.1947C>T	CCDS14330.1																																																																																				PASS	0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		29	13	29	13	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75649158	75649158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:75649158G>T	ENST00000361470.2	+	1	1113	c.835G>T	c.(835-837)Gga>Tga	p.G279*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	279	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.G279*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGCCTCTGACGGACAAAGCAT	0.706																																						uc004ecm.1																			2	Substitution - Nonsense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(835-837)GGA>TGA		melanoma antigen family E, 1							30.0	27.0	28.0					X																	75649158		2201	4295	6496	SO:0001587	stop_gained	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649158G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.835G>T	X.37:g.75649158G>T	ENSP00000354912:p.Gly279*						p.G279*	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1042	+			279			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	c.835G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.620367	0.87460	.	.	ENSG00000198934	ENST00000361470	.	.	.	1.52	-0.577	0.11727	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	2.8286	0.05492	0.3728:0.2442:0.383:0.0	.	.	.	.	X	279	.	ENSP00000354912:G279X	G	+	1	0	MAGEE1	75565562	0.051000	0.20477	0.000000	0.03702	0.002000	0.02628	0.023000	0.13533	-0.309000	0.08779	-0.430000	0.05897	GGA		PASS	0.706	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		3	4	3	4	---	---	---	---
POU3F4	5456	broad.mit.edu	37	X	82763671	82763671	+	Silent	SNP	C	C	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:82763671C>T	ENST00000373200.2	+	1	403	c.339C>T	c.(337-339)gcC>gcT	p.A113A	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	113					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A113A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACCCCAACGCCTGGGGGGCCA	0.652																																						uc004eeg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(337-339)GCC>GCT		POU domain, class 3, transcription factor 4							33.0	32.0	32.0					X																	82763671		2195	4298	6493	SO:0001819	synonymous_variant	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763671C>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.339C>T	X.37:g.82763671C>T							p.A113A	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	403	+			113					B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	c.339C>T	CCDS14450.1																																																																																				PASS	0.652	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		7	3	7	3	---	---	---	---
NXF3	56000	broad.mit.edu	37	X	102335086	102335086	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:102335086G>T	ENST00000395065.3	-	11	1087	c.986C>A	c.(985-987)cCa>cAa	p.P329Q	NXF3_ENST00000425644.1_Missense_Mutation_p.Q20K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	329					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.P329Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTACAGGTTGGTAACCTCTT	0.537																																						uc004eju.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(985-987)CCA>CAA		nuclear RNA export factor 3							201.0	179.0	186.0					X																	102335086		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102335086G>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.986C>A	X.37:g.102335086G>T	ENSP00000378504:p.Pro329Gln					NXF3_uc010noi.1_Missense_Mutation_p.P179Q	p.P329Q	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			11	1057	-			329					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.986C>A	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998377|1.998377	0.35226|0.35226	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000395065|ENST00000425644	T|.	0.81330|.	-1.48|.	4.44|4.44	0.395|0.395	0.16304|0.16304	.|.	0.174817|.	0.52532|.	D|.	0.000079|.	T|T	0.28167|0.28167	0.0695|0.0695	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	D;P|.	0.76494|.	0.999;0.898|.	D;P|.	0.76575|.	0.988;0.57|.	T|T	0.30736|0.30736	-0.9968|-0.9968	10|6	0.38643|0.08837	T|T	0.18|0.75	1.0E-4|1.0E-4	5.6586|5.6586	0.17656|0.17656	0.0991:0.0:0.407:0.4938|0.0991:0.0:0.407:0.4938	.|.	225;329|.	E9PEY7;Q9H4D5|.	.;NXF3_HUMAN|.	Q|K	329|20	ENSP00000378504:P329Q|.	ENSP00000378504:P329Q|ENSP00000401026:Q20K	P|Q	-|-	2|1	0|0	NXF3|NXF3	102221742|102221742	0.418000|0.418000	0.25440|0.25440	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	2.809000|2.809000	0.47971|0.47971	-0.171000|-0.171000	0.10797|0.10797	-0.225000|-0.225000	0.12378|0.12378	CCA|CAA		PASS	0.537	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		8	198	8	198	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	105011289	105011289	+	Silent	SNP	C	C	A	rs375104702		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:105011289C>A	ENST00000372582.1	+	11	2452	c.1696C>A	c.(1696-1698)Cgg>Agg	p.R566R	IL1RAPL2_ENST00000344799.4_Silent_p.R566R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	566					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.R566R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATGCTACCTCGGTGCCATGT	0.438																																						uc004elz.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(1696-1698)CGG>AGG		interleukin 1 receptor accessory protein-like 2							84.0	87.0	86.0					X																	105011289		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011289C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1696C>A	X.37:g.105011289C>A							p.R566R	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2452	+			566			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.1696C>A	CCDS14517.1																																																																																				PASS	0.438	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		5	127	5	127	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118116786	118116786	+	Silent	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:118116786A>T	ENST00000371628.3	+	3	970	c.939A>T	c.(937-939)gcA>gcT	p.A313A	LONRF3_ENST00000304778.7_Intron|LONRF3_ENST00000422289.2_Silent_p.A5A|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	313							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.A313A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTTCCAGGCACATTTCAGAA	0.443																																						uc004eqw.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(937-939)GCA>GCT		LON peptidase N-terminal domain and ring finger							130.0	118.0	122.0					X																	118116786		2203	4300	6503	SO:0001819	synonymous_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118116786A>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.939A>T	X.37:g.118116786A>T						LONRF3_uc004eqx.2_Intron|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Silent_p.A5A	p.A313A	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			3	970	+			313			TPR 4.		Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	c.939A>T	CCDS35374.1																																																																																				PASS	0.443	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		42	22	42	22	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685298	125685298	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:125685298A>T	ENST00000371126.1	-	1	1536	c.1294T>A	c.(1294-1296)Tac>Aac	p.Y432N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	432								p.Y432N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CAGTGGGTGTAGAGCGCATTG	0.557																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1294-1296)TAC>AAC		DDB1 and CUL4 associated factor 12-like 1							131.0	123.0	126.0					X																	125685298		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685298A>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1294T>A	X.37:g.125685298A>T	ENSP00000360167:p.Tyr432Asn						p.Y432N	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1545	-			432					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1294T>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522192	0.44866	.	.	ENSG00000198889	ENST00000371126	T	0.39229	1.09	3.85	2.7	0.31948	.	0.000000	0.32769	N	0.005663	T	0.57651	0.2068	M	0.72353	2.195	0.37409	D	0.913158	D	0.89917	1.0	D	0.87578	0.998	T	0.62044	-0.6937	10	0.87932	D	0	.	6.7206	0.23328	0.8814:0.0:0.1186:0.0	.	432	Q5VU92	DC121_HUMAN	N	432	ENSP00000360167:Y432N	ENSP00000360167:Y432N	Y	-	1	0	DCAF12L1	125512979	1.000000	0.71417	0.115000	0.21578	0.519000	0.34347	5.206000	0.65192	0.661000	0.30985	0.417000	0.27973	TAC		PASS	0.557	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		44	28	44	28	---	---	---	---
F8	2157	broad.mit.edu	37	X	154182254	154182254	+	Missense_Mutation	SNP	G	G	T	rs372433670		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:154182254G>T	ENST00000360256.4	-	12	2016	c.1816C>A	c.(1816-1818)Ctc>Atc	p.L606I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	606	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.L606I(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTCTGTGAGGTACCAGCTT	0.428																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1816-1818)CTC>ATC		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						212.0	191.0	198.0					X																	154182254		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154182254G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1816C>A	X.37:g.154182254G>T	ENSP00000353393:p.Leu606Ile						p.L606I	NM_000132	NP_000123	P00451	FA8_HUMAN			12	1987	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		606			F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1816C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	12.70	2.017451	0.35606	.	.	ENSG00000185010	ENST00000360256	D	0.99800	-6.8	5.18	2.31	0.28768	Cupredoxin (2);	0.437004	0.25447	N	0.030618	D	0.98667	0.9553	L	0.46670	1.46	0.25246	N	0.989714	B	0.21606	0.058	B	0.25884	0.064	D	0.99942	1.1425	10	0.36615	T	0.2	-4.8807	6.8619	0.24072	0.17:0.0:0.6856:0.1444	.	606	P00451	FA8_HUMAN	I	606	ENSP00000353393:L606I	ENSP00000353393:L606I	L	-	1	0	F8	153835448	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.285000	0.33261	0.465000	0.27167	0.509000	0.49947	CTC		PASS	0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			7	123	7	123	---	---	---	---
IL9R	3581	broad.mit.edu	37	X	155232571	155232571	+	Splice_Site	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrX:155232571G>T	ENST00000244174.5	+	2	208	c.29G>T	c.(28-30)gGc>gTc	p.G10V	IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000369423.2_Missense_Mutation_p.G57V|IL9R_ENST00000540897.1_Missense_Mutation_p.G47V	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	10					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.G10V(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCCTTGCAGGCTGGACCTTG	0.622																																						uc004fnv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)GGC>GTC		interleukin 9 receptor precursor							131.0	134.0	133.0					X																	155232571		2203	4296	6499	SO:0001630	splice_region_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155232571G>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.29-1G>T	X.37:g.155232571G>T						IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.G57V	p.G10V	NM_002186	NP_002177	Q01113	IL9R_HUMAN			2	208	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		10					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.29G>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	17.16	3.317655	0.60524	.	.	ENSG00000124334	ENST00000244174;ENST00000369423;ENST00000540897	T;T;T	0.53857	1.89;0.6;0.61	1.29	1.29	0.21616	.	.	.	.	.	T	0.63988	0.2558	.	.	.	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.49542	-0.8929	8	0.87932	D	0	.	5.5447	0.17057	0.0:0.0:1.0:0.0	.	10;57	Q01113;B9ZVT0	IL9R_HUMAN;.	V	10;57;47	ENSP00000244174:G10V;ENSP00000358431:G57V;ENSP00000438112:G47V	ENSP00000244174:G10V	G	+	2	0	IL9R	154885765	0.989000	0.36119	0.653000	0.29593	0.899000	0.52679	0.835000	0.27531	0.932000	0.37266	0.287000	0.19450	GGC		PASS	0.622	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186	Missense_Mutation	11	54	11	54	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4924872	4924872	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chrY:4924872G>T	ENST00000362095.5	+	1	742	c.8G>T	c.(7-9)aGg>aTg	p.R3M	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R3M|PCDH11Y_ENST00000333703.4_Intron	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	3					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGCATGTTTAGGGTTGGCTTC	0.328																																						uc004fqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)AGG>ATG		protocadherin 11 Y-linked isoform c							46.0	36.0	38.0					Y																	4924872		600	1938	2538	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4924872G>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000362095.5:c.8G>T	Y.37:g.4924872G>T	ENSP00000355419:p.Arg3Met					PCDH11Y_uc010nwg.1_Intron|PCDH11Y_uc004fql.1_Intron|PCDH11Y_uc004fqm.1_Intron|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R3M	p.R3M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	742	+			3					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000362095.5	37	c.8G>T	CCDS14777.1																																																																																				PASS	0.328	PCDH11Y-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084980.1	NM_032973		9	8	9	8	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227400857	227400857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr1:227400857delC	ENST00000366769.3	-	3	1625	c.334delG	c.(334-336)gaafs	p.E112fs	CDC42BPA_ENST00000366764.2_Frame_Shift_Del_p.E112fs|CDC42BPA_ENST00000366767.3_Frame_Shift_Del_p.E112fs|CDC42BPA_ENST00000334218.5_Frame_Shift_Del_p.E112fs|CDC42BPA_ENST00000535525.1_Frame_Shift_Del_p.E112fs|CDC42BPA_ENST00000366766.2_Frame_Shift_Del_p.E112fs|CDC42BPA_ENST00000366765.3_Frame_Shift_Del_p.E112fs	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCAGCATTTCCCATTTATTC	0.244																																						uc001hqr.2																			0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(334-336)GAAfs		CDC42-binding protein kinase alpha isoform B							66.0	70.0	69.0					1																	227400857		2195	4275	6470	SO:0001589	frameshift_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227400857delC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.334delG	1.37:g.227400857delC	ENSP00000355731:p.Glu112fs					CDC42BPA_uc001hqs.2_Frame_Shift_Del_p.E112fs|CDC42BPA_uc009xes.2_Frame_Shift_Del_p.E112fs|CDC42BPA_uc010pvs.1_Frame_Shift_Del_p.E112fs	p.E112fs	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			3	1277	-		all_cancers(173;0.156)|Prostate(94;0.0792)	112			Protein kinase.			Frame_Shift_Del	DEL	ENST00000366769.3	37	c.334delG	CCDS1558.1																																																																																					0.244	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		36	16	36	16	---	---	---	---
ANKRD31	256006	broad.mit.edu	37	5	74491716	74491718	+	In_Frame_Del	DEL	TCA	TCA	-	rs10563854	byFrequency	TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr5:74491716_74491718delTCA	ENST00000274361.3	-	7	946_948	c.755_757delTGA	c.(754-759)atgaac>aac	p.M252del	ANKRD31_ENST00000506364.2_In_Frame_Del_p.M252del	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	252										endometrium(1)|kidney(4)	5						CTCAATGGGTTCATCAATTCTTT	0.379														2912	0.58147	0.8858	0.4193	5008	,	,		21049	0.4752		0.3857	False		,,,				2504	0.5961					uc003kdo.1																			0					0						c.(754-759)ATGAAC>AAC		Homo sapiens cDNA FLJ40191 fis, clone TESTI2019280, weakly similar to Homo sapiens nasopharyngeal carcinoma susceptibility protein LZ16 mRNA.				1685,409		708,269,70						-2.5	0.0		dbSNP_119	88	1573,2789		351,871,959	no	coding	ANKRD31	NM_001164443.1		1059,1140,1029	A1A1,A1R,RR		36.0614,19.532,49.5353				3258,3198				SO:0001651	inframe_deletion	256006							g.chr5:74491716_74491718delTCA	AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.755_757delTGA	5.37:g.74491719_74491721delTCA	ENSP00000274361:p.Met252del						p.M252del			Q8N7Z5	ANR31_HUMAN			7	947_949	-			252						In_Frame_Del	DEL	ENST00000274361.3	37	c.755_757delTGA																																																																																						0.379	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001164443		9	5	9	5	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139635985	139635985	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr8:139635985delG	ENST00000303045.6	-	52	4207	c.3761delC	c.(3760-3762)cctfs	p.P1254fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Del_p.P1234fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1254	Collagen-like 12.|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)				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)			CGGCTCTCCAGGGGGACCCGG	0.438										HNSCC(7;0.00092)																												uc003yvd.2																			0				ovary(11)|pancreas(1)|skin(1)	13						c.(3760-3762)CCTfs		collagen, type XXII, alpha 1							193.0	206.0	201.0					8																	139635985		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139635985delG	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.3761delC	8.37:g.139635985delG	ENSP00000303153:p.Pro1254fs	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Frame_Shift_Del_p.P534fs	p.P1254fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		52	4208	-	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)		1254			Pro-rich.|Gly-rich.|Collagen-like 12.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.3761delC	CCDS6376.1																																																																																					0.438	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		149	69	149	69	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538677	1538678	+	Frame_Shift_Ins	INS	-	-	T	rs372378145|rs34681910		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:1538677_1538678insT	ENST00000263071.4	-	11	1916_1917	c.1867_1868insA	c.(1867-1869)gcgfs	p.A623fs	SCARF1_ENST00000348987.3_Frame_Shift_Ins_p.A537fs|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	623	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCGACTGCGCCCCCCGGGAG	0.668																																						uc002fsz.1																			0				skin(1)	1						c.(1867-1869)GCGfs		scavenger receptor class F, member 1 isoform 1																																				SO:0001589	frameshift_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538677_1538678insT	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1867_1868insA	17.37:g.1538677_1538678insT	ENSP00000263071:p.Ala623fs					SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Frame_Shift_Ins_p.A537fs	p.A623fs	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1917_1918	-			623			Gly-rich.|Cytoplasmic (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Frame_Shift_Ins	INS	ENST00000263071.4	37	c.1867_1868insA	CCDS11007.1																																																																																					0.668	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		6	13	6	13	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Frame_Shift_Del	DEL	C	C	-	rs397516437		TCGA-18-3416-01A-01D-0983-08	TCGA-18-3416-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e03577e7-37be-460b-96e8-5f6e0b49b3aa	039cc9b2-bb06-4af8-a7c1-cfecf25753be	g.chr17:7577550delC	ENST00000269305.4	-	7	920	c.731delG	c.(730-732)ggcfs	p.G245fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.G245fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G245fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.G245fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G245fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G245fs	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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)	GTTCATGCCGCCCATGCAGGA	0.577		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		104	Substitution - Missense(75)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.G244S(35)|p.G244C(34)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)	large_intestine(21)|liver(16)|haematopoietic_and_lymphoid_tissue(9)|ovary(9)|stomach(7)|breast(7)|lung(7)|biliary_tract(6)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|cervix(1)|vulva(1)|endometrium(1)|salivary_gland(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056069|CM070298	TP53	M	rs28934572	c.(730-732)GGCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							148.0	111.0	124.0					17																	7577550		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577550delC	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.731delG	17.37:g.7577550delC	ENSP00000269305:p.Gly245fs	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_Frame_Shift_Del_p.G244fs|TP53_uc002gih.2_Frame_Shift_Del_p.G244fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G112fs|TP53_uc010cng.1_Frame_Shift_Del_p.G112fs|TP53_uc002gii.1_Frame_Shift_Del_p.G112fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G244fs|TP53_uc010cni.1_Frame_Shift_Del_p.G244fs|TP53_uc002gij.2_Frame_Shift_Del_p.G244fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G151fs|TP53_uc002gio.2_Frame_Shift_Del_p.G112fs	p.G244fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	925	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.731delG	CCDS11118.1																																																																																					0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	22	30	22	---	---	---	---
