#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	979737	979737	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:979737C>T	ENST00000379370.2	+	12	2222	c.2172C>T	c.(2170-2172)acC>acT	p.T724T		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	724	Kazal-like 8. {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.T724T(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)		ATGGGGTCACCTACAGCACCG	0.687																																						uc001ack.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(2170-2172)ACC>ACT		agrin precursor							41.0	41.0	41.0					1																	979737		2203	4299	6502	SO:0001819	synonymous_variant	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.chr1:979737C>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.2172C>T	1.37:g.979737C>T							p.T724T	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)	12	2222	+	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)	724			Kazal-like 8.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.2172C>T	CCDS30551.1																																																																																				PASS	0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		6	15	6	15	---	---	---	---
DFFB	1677	broad.mit.edu	37	1	3800107	3800107	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:3800107G>T	ENST00000378209.3	+	7	1142	c.819G>T	c.(817-819)gtG>gtT	p.V273V	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	273					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V273V(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTACACTGGTGGAAGCAATTA	0.433																																						uc001alc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(817-819)GTG>GTT		DNA fragmentation factor, 40 kD, beta							165.0	154.0	158.0					1																	3800107		2203	4300	6503	SO:0001819	synonymous_variant	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3800107G>T		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.819G>T	1.37:g.3800107G>T						DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.V297V|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Silent_p.V224V|DFFB_uc001ald.2_Silent_p.V209V	p.V273V	NM_004402	NP_004393	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1142	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	273					O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000378209.3	37	c.819G>T	CCDS52.1																																																																																				PASS	0.433	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		6	129	6	129	---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9661495	9661495	+	Silent	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:9661495G>C	ENST00000340381.6	+	5	948	c.939G>C	c.(937-939)ctG>ctC	p.L313L	TMEM201_ENST00000340305.5_Silent_p.L313L|TMEM201_ENST00000377376.4_Silent_p.L313L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	313					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.L313L(2)		lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCAATGCTGCTGGCTGGCC	0.667																																						uc001apz.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(937-939)CTG>CTC		transmembrane protein 201 isoform 1							26.0	29.0	28.0					1																	9661495		2201	4297	6498	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9661495G>C		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.939G>C	1.37:g.9661495G>C						TMEM201_uc001apy.2_Silent_p.L313L	p.L313L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	951	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	313			Helical; (Potential).		B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.939G>C	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	1.693	-0.503609	0.04261	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.68	1.7	0.24286	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21280	-1.0250	4	.	.	.	-15.1132	2.3045	0.04171	0.1765:0.1601:0.5184:0.145	.	.	.	.	P	223	.	.	A	+	1	0	TMEM201	9584082	0.403000	0.25319	0.999000	0.59377	0.308000	0.27856	0.022000	0.13511	0.065000	0.16485	-0.244000	0.11960	GCT		PASS	0.667	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		6	25	6	25	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10336422	10336422	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:10336422G>T	ENST00000377086.1	+	12	1204	c.1002G>T	c.(1000-1002)gcG>gcT	p.A334A	KIF1B_ENST00000377081.1_Silent_p.A334A|KIF1B_ENST00000377083.1_Silent_p.A328A|KIF1B_ENST00000377093.4_Silent_p.A328A|KIF1B_ENST00000263934.6_Silent_p.A328A			O60333	KIF1B_HUMAN	kinesin family member 1B	334	Interaction with KBP.|Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A328A(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGCCCCGCGGATATCAACT	0.398																																						uc001aqx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1000-1002)GCG>GCT		kinesin family member 1B isoform b							104.0	89.0	94.0					1																	10336422		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10336422G>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1002G>T	1.37:g.10336422G>T						KIF1B_uc001aqv.3_Silent_p.A328A|KIF1B_uc001aqw.3_Silent_p.A328A|KIF1B_uc001aqy.2_Silent_p.A334A|KIF1B_uc001aqz.2_Silent_p.A334A|KIF1B_uc001ara.2_Silent_p.A334A|KIF1B_uc001arb.2_Silent_p.A334A	p.A334A	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	12	1204	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	334			Kinesin-motor.|Interaction with KBP.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.1002G>T																																																																																					PASS	0.398	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			11	12	11	12	---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10720208	10720208	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:10720208G>A	ENST00000377022.3	-	6	1208	c.891C>T	c.(889-891)caC>caT	p.H297H	CASZ1_ENST00000344008.5_Silent_p.H297H|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	297					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H297H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGACACTGCTGTGCGACGGCA	0.657																																						uc001aro.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(889-891)CAC>CAT		castor homolog 1, zinc finger isoform a							59.0	66.0	64.0					1																	10720208		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720208G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.891C>T	1.37:g.10720208G>A						CASZ1_uc001arp.1_Silent_p.H297H|CASZ1_uc009vmx.2_Silent_p.H321H|CASZ1_uc001arq.1_Silent_p.H156H	p.H297H	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1211	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	297					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.891C>T	CCDS41246.1																																																																																				PASS	0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		37	46	37	46	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11297904	11297904	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:11297904A>C	ENST00000361445.4	-	13	2280	c.2204T>G	c.(2203-2205)aTc>aGc	p.I735S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	735					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I735S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGTTACCTGGATGAGCATCTT	0.577																																						uc001asd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(2203-2205)ATC>AGC		FK506 binding protein 12-rapamycin associated							69.0	58.0	62.0					1																	11297904		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11297904A>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2204T>G	1.37:g.11297904A>C	ENSP00000354558:p.Ile735Ser						p.I735S	NM_004958	NP_004949	P42345	MTOR_HUMAN			13	2325	-			735					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2204T>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506480	0.85282	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68624	-0.34	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.85041	2.73	0.80722	D	1	D	0.54964	0.969	P	0.48654	0.585	T	0.82030	-0.0659	10	0.87932	D	0	.	15.9649	0.79961	1.0:0.0:0.0:0.0	.	735	P42345	MTOR_HUMAN	S	735	ENSP00000354558:I735S	ENSP00000354558:I735S	I	-	2	0	MTOR	11220491	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.848000	0.92172	2.178000	0.69098	0.459000	0.35465	ATC		PASS	0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		13	49	13	49	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17593278	17593278	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:17593278A>C	ENST00000375460.3	+	5	513	c.473A>C	c.(472-474)gAt>gCt	p.D158A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	158					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.D158A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GACCGTGATGATCCGAGCTGT	0.607																																						uc001bai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(472-474)GAT>GCT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						207.0	161.0	177.0					1																	17593278		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17593278A>C	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.473A>C	1.37:g.17593278A>C	ENSP00000364609:p.Asp158Ala						p.D158A	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	5	513	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	158					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.473A>C	CCDS179.1	.	.	.	.	.	.	.	.	.	.	A	6.508	0.461980	0.12342	.	.	ENSG00000142619	ENST00000375460	T	0.14022	2.54	4.85	2.54	0.30619	Protein-arginine deiminase (PAD), central domain (2);	1.081620	0.06925	N	0.810035	T	0.15176	0.0366	L	0.49350	1.555	0.09310	N	1	B	0.20164	0.042	B	0.24701	0.055	T	0.37033	-0.9723	10	0.37606	T	0.19	-1.5912	7.062	0.25131	0.8161:0.0:0.1839:0.0	.	158	Q9ULW8	PADI3_HUMAN	A	158	ENSP00000364609:D158A	ENSP00000364609:D158A	D	+	2	0	PADI3	17465865	0.028000	0.19301	0.001000	0.08648	0.301000	0.27625	2.657000	0.46724	0.316000	0.23135	0.459000	0.35465	GAT		PASS	0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			12	56	12	56	---	---	---	---
USP48	84196	broad.mit.edu	37	1	22021658	22021658	+	Silent	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:22021658T>C	ENST00000308271.9	-	23	3432	c.2784A>G	c.(2782-2784)caA>caG	p.Q928Q	USP48_ENST00000529637.1_Silent_p.Q940Q|USP48_ENST00000400301.1_Intron|USP48_ENST00000374732.3_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	928					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.Q928Q(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TAACTTGCTTTTGATAGGCTA	0.368																																						uc001bfb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(2782-2784)CAA>CAG		ubiquitin specific protease 48 isoform a							157.0	150.0	153.0					1																	22021658		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22021658T>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2784A>G	1.37:g.22021658T>C						USP48_uc001bfa.2_Intron|USP48_uc010odq.1_Silent_p.Q940Q|USP48_uc009vqc.2_Silent_p.Q862Q|USP48_uc001bfc.2_Intron|USP48_uc001bfd.1_Silent_p.Q53Q	p.Q928Q	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	23	3022	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	928					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.2784A>G	CCDS30623.1																																																																																				PASS	0.368	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		14	57	14	57	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31418279	31418279	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:31418279G>C	ENST00000257075.5	-	18	2995	c.2902C>G	c.(2902-2904)Cag>Gag	p.Q968E	PUM1_ENST00000373741.4_Missense_Mutation_p.Q1006E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q944E|PUM1_ENST00000423018.2_Missense_Mutation_p.Q826E|PUM1_ENST00000373742.2_Missense_Mutation_p.Q909E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q726E|PUM1_ENST00000373747.3_Missense_Mutation_p.Q971E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q970E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	968	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Q968E(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTGCCATTCTGATCTTTCACA	0.443																																						uc001bsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2902-2904)CAG>GAG		pumilio 1 isoform 2							128.0	114.0	119.0					1																	31418279		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31418279G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2902C>G	1.37:g.31418279G>C	ENSP00000257075:p.Gln968Glu					PUM1_uc001bsf.1_Missense_Mutation_p.Q636E|PUM1_uc001bsg.1_Missense_Mutation_p.Q702E|PUM1_uc001bsh.1_Missense_Mutation_p.Q970E|PUM1_uc001bsj.1_Missense_Mutation_p.Q944E|PUM1_uc010oga.1_Missense_Mutation_p.Q826E|PUM1_uc001bsk.1_Missense_Mutation_p.Q1006E|PUM1_uc010ogb.1_Missense_Mutation_p.Q909E|SNORD103A_uc009vts.1_Intron	p.Q968E	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	18	3015	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	968			PUM-HD.|Pumilio 4.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2902C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.960093|4.960093	0.92791|0.92791	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|.	0.15952|.	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.102938|.	0.64402|.	D|.	0.000002|.	D|.	0.88749|.	0.6521|.	H|H	0.97365|0.97365	3.99|3.99	0.80722|0.80722	D|D	1|1	P;D;P;D;P;P;P;D|.	0.65815|.	0.951;0.995;0.641;0.993;0.789;0.641;0.951;0.993|.	P;P;B;P;P;B;P;D|.	0.64410|.	0.699;0.9;0.22;0.881;0.573;0.299;0.699;0.925|.	D|.	0.92632|.	0.6117|.	10|.	0.87932|.	D|.	0|.	-3.9827|-3.9827	18.5995|18.5995	0.91242|0.91242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	909;826;1006;944;968;970;971;970|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	E|X	726;968;971;708;970;944;1006;826;909;121|906;681	ENSP00000400141:Q726E;ENSP00000257075:Q968E;ENSP00000362852:Q971E;ENSP00000391723:Q970E;ENSP00000401777:Q944E;ENSP00000362846:Q1006E;ENSP00000399440:Q826E;ENSP00000362847:Q909E;ENSP00000431213:Q121E|.	ENSP00000257075:Q968E|.	Q|S	-|-	1|2	0|0	PUM1|PUM1	31190866|31190866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.657000|9.657000	0.98554|0.98554	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	CAG|TCA		PASS	0.443	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			9	47	9	47	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32502535	32502535	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:32502535G>C	ENST00000327300.7	+	5	963	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.E227Q|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.E266Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TATCTGTCAGGAGCAATTTCT	0.512																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)GAG>CAG		KH domain containing, RNA binding, signal							152.0	142.0	145.0					1																	32502535		2203	4300	6503	SO:0001583	missense	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32502535G>C	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.796G>C	1.37:g.32502535G>C	ENSP00000313829:p.Glu266Gln					KHDRBS1_uc001bua.1_Missense_Mutation_p.E227Q|KHDRBS1_uc001buc.1_RNA	p.E266Q	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			5	902	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	266						Missense_Mutation	SNP	ENST00000327300.7	37	c.796G>C	CCDS350.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752284	0.69533	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.17213	2.29;2.29	5.7	5.7	0.88788	.	0.143183	0.64402	D	0.000007	T	0.26919	0.0659	L	0.55743	1.74	0.80722	D	1	B;B	0.28998	0.23;0.099	B;B	0.37550	0.253;0.175	T	0.01904	-1.1250	10	0.51188	T	0.08	.	19.8828	0.96904	0.0:0.0:1.0:0.0	.	266;227	Q07666;Q07666-3	KHDR1_HUMAN;.	Q	266;227;242	ENSP00000313829:E266Q;ENSP00000417731:E227Q	ENSP00000313829:E266Q	E	+	1	0	KHDRBS1	32275122	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.950000	0.87804	2.876000	0.98609	0.644000	0.83932	GAG		PASS	0.512	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		16	64	16	64	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34008457	34008457	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:34008457C>A	ENST00000373381.4	-	58	9316	c.9140G>T	c.(9139-9141)cGa>cTa	p.R3047L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3022	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2903L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAACACAACTCGGGCATTACT	0.517																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(8707-8709)CGA>CTA		CUB and Sushi multiple domains 2							69.0	60.0	63.0					1																	34008457		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34008457C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9140G>T	1.37:g.34008457C>A	ENSP00000362479:p.Arg3047Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.R3047L	p.R2903L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			57	8737	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2903			Sushi 21.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8708G>T		.	.	.	.	.	.	.	.	.	.	C	14.59	2.579668	0.46006	.	.	ENSG00000121904	ENST00000373381	T	0.64438	-0.1	6.07	3.17	0.36434	Complement control module (2);Sushi/SCR/CCP (3);	0.366678	0.27113	N	0.020868	T	0.57489	0.2057	L	0.46567	1.45	0.48395	D	0.999647	B;B	0.33612	0.419;0.341	B;B	0.43658	0.426;0.426	T	0.50617	-0.8807	10	0.36615	T	0.2	.	5.5227	0.16941	0.1367:0.6412:0.0:0.2222	.	2903;3047	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	3047	ENSP00000362479:R3047L	ENSP00000241312:R2903L	R	-	2	0	CSMD2	33781044	0.521000	0.26258	0.625000	0.29200	0.450000	0.32258	0.931000	0.28871	0.426000	0.26116	-0.140000	0.14226	CGA		PASS	0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		4	38	4	38	---	---	---	---
OSCP1	127700	broad.mit.edu	37	1	36886200	36886200	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:36886200T>A	ENST00000356637.5	-	9	929	c.866A>T	c.(865-867)aAc>aTc	p.N289I	SNORA63_ENST00000364578.1_RNA|OSCP1_ENST00000315643.9_Missense_Mutation_p.N289I|OSCP1_ENST00000235532.5_Missense_Mutation_p.N279I|OSCP1_ENST00000495222.1_Intron|OSCP1_ENST00000433045.2_Missense_Mutation_p.N234I			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	289					transport (GO:0006810)	plasma membrane (GO:0005886)		p.N289I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						AGCAAGAGGGTTTGGAGCAAT	0.468											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cap.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(865-867)AAC>ATC		oxidored-nitro domain-containing protein isoform							195.0	198.0	197.0					1																	36886200		2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36886200T>A		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.866A>T	1.37:g.36886200T>A	ENSP00000349052:p.Asn289Ile		OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	OSCP1_uc001caq.2_Missense_Mutation_p.N279I	p.N289I	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN			9	948	-			289					A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.866A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	28.0|28.0	4.886146|4.886146	0.91814|0.91814	.|.	.|.	ENSG00000116885|ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000315643|ENST00000468441	T;T;T;T|.	0.33438|.	1.82;1.84;1.41;1.81|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74989|0.74989	0.3789|0.3789	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999997|0.999997	D;P|.	0.55800|.	0.973;0.954|.	P;P|.	0.59825|.	0.864;0.646|.	T|T	0.75246|0.75246	-0.3385|-0.3385	10|5	0.87932|.	D|.	0|.	.|.	15.492|15.492	0.75615|0.75615	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	279;289|.	Q8WVF1-3;Q8WVF1|.	.;OSCP1_HUMAN|.	I|S	279;289;234;289|17	ENSP00000235532:N279I;ENSP00000349052:N289I;ENSP00000390820:N234I;ENSP00000314541:N289I|.	ENSP00000235532:N279I|.	N|T	-|-	2|1	0|0	OSCP1|OSCP1	36658787|36658787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.937000|3.937000	0.56575|0.56575	2.251000|2.251000	0.74343|0.74343	0.478000|0.478000	0.44815|0.44815	AAC|ACC		PASS	0.468	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		42	219	42	219	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39898246	39898246	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:39898246G>A	ENST00000372915.3	+	65	17152	c.17065G>A	c.(17065-17067)Gaa>Aaa	p.E5689K	MACF1_ENST00000539005.1_Missense_Mutation_p.E3601K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3731K|MACF1_ENST00000289893.4_Missense_Mutation_p.E4233K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3731K|MACF1_ENST00000567887.1_Missense_Mutation_p.E5830K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3731K|MACF1_ENST00000564288.1_Missense_Mutation_p.E5793K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5689					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.E4233K(1)|p.E3731K(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)			TTGGGTTGCTGAAACAAAACG	0.453																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(12697-12699)GAA>AAA		microfilament and actin filament cross-linker							80.0	79.0	80.0					1																	39898246		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.chr1:39898246G>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.17065G>A	1.37:g.39898246G>A	ENSP00000362006:p.Glu5689Lys					MACF1_uc010ois.1_Missense_Mutation_p.E3731K|MACF1_uc001cda.1_Missense_Mutation_p.E3618K|MACF1_uc001cdc.1_Missense_Mutation_p.E2688K	p.E4233K	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)		31	12828	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5798			Spectrin 9.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12697G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.754663	0.96890	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.66815	1.01;-0.23;1.01;0.39;1.01;1.01	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000009	T	0.81148	0.4762	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.992	D;D;D	0.81914	0.995;0.979;0.939	T	0.80482	-0.1363	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	5689;3731;3675	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	K	3731;5689;3731;3731;3601;4233	ENSP00000439537:E3731K;ENSP00000362006:E5689K;ENSP00000354573:E3731K;ENSP00000313438:E3731K;ENSP00000444364:E3601K;ENSP00000289893:E4233K	ENSP00000289893:E4233K	E	+	1	0	MACF1	39670833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	25	9	25	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40777194	40777194	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:40777194A>T	ENST00000372748.3	-	10	593	c.497T>A	c.(496-498)cTg>cAg	p.L166Q		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	166	Nonhelical region 4 (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.L166Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			ACTGCCTTCCAGACCCTGGAT	0.647																																						uc001cfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(496-498)CTG>CAG		alpha 2 type IX collagen precursor							69.0	72.0	71.0					1																	40777194		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40777194A>T	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.497T>A	1.37:g.40777194A>T	ENSP00000361834:p.Leu166Gln					COL9A2_uc001cfi.1_5'UTR	p.L166Q	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		10	567	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	166			Nonhelical region 4 (NC4).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.497T>A	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	15.35	2.807069	0.50421	.	.	ENSG00000049089	ENST00000372748	D	0.94232	-3.38	5.56	5.56	0.83823	.	0.278450	0.29059	N	0.013268	D	0.95915	0.8670	M	0.82716	2.605	0.39296	D	0.964827	D	0.76494	0.999	D	0.75020	0.985	D	0.94980	0.8125	10	0.13470	T	0.59	.	12.1001	0.53778	1.0:0.0:0.0:0.0	.	166	Q14055	CO9A2_HUMAN	Q	166	ENSP00000361834:L166Q	ENSP00000361834:L166Q	L	-	2	0	COL9A2	40549781	0.872000	0.30054	0.984000	0.44739	0.504000	0.33889	3.138000	0.50570	2.107000	0.64212	0.460000	0.39030	CTG		PASS	0.647	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		15	67	15	67	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	45101781	45101781	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:45101781G>T	ENST00000355387.2	+	8	1523	c.1073G>T	c.(1072-1074)tGg>tTg	p.W358L	RNF220_ENST00000443020.2_Missense_Mutation_p.W145L|TMEM53_ENST00000372244.3_3'UTR|TMEM53_ENST00000372243.3_3'UTR|RNF220_ENST00000361799.2_Missense_Mutation_p.W358L|TMEM53_ENST00000372242.3_3'UTR|RNF220_ENST00000372247.2_Missense_Mutation_p.W358L			Q5VTB9	RN220_HUMAN	ring finger protein 220	358					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W358L(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GAGTATGAGTGGTGTGGACAG	0.562																																						uc001clv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1072-1074)TGG>TTG		ring finger protein 220							182.0	161.0	168.0					1																	45101781		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45101781G>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1073G>T	1.37:g.45101781G>T	ENSP00000347548:p.Trp358Leu					RNF220_uc001clw.1_Missense_Mutation_p.W358L|RNF220_uc010okx.1_Missense_Mutation_p.W119L|RNF220_uc010oky.1_Missense_Mutation_p.W145L|RNF220_uc010okz.1_Missense_Mutation_p.W100L|RNF220_uc001clx.1_Missense_Mutation_p.W74L|RNF220_uc001cly.1_Missense_Mutation_p.W37L|RNF220_uc001clz.1_Missense_Mutation_p.W37L|RNF220_uc001cma.1_Missense_Mutation_p.W37L|TMEM53_uc001cmb.1_3'UTR	p.W358L	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			8	1433	+			358					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.1073G>T	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308113	0.81247	.	.	ENSG00000187147	ENST00000355387;ENST00000416840;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000440132;ENST00000335497;ENST00000372248	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.967	D;D;D;D;P	0.85130	0.997;0.997;0.927;0.997;0.901	D	0.93495	0.6839	10	0.62326	D	0.03	.	18.9705	0.92713	0.0:0.0:1.0:0.0	.	100;145;37;74;358	B4DJE2;B4DLZ9;D3DPZ1;C9JJY2;Q5VTB9	.;.;.;.;RN220_HUMAN	L	358;123;358;358;358;145;74;100;100	ENSP00000347548:W358L;ENSP00000354872:W358L;ENSP00000361321:W358L;ENSP00000414640:W145L;ENSP00000388533:W74L;ENSP00000335580:W100L	ENSP00000335580:W100L	W	+	2	0	RNF220	44874368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.715000	0.92844	0.655000	0.94253	TGG		PASS	0.562	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		8	160	8	160	---	---	---	---
EIF2B3	8891	broad.mit.edu	37	1	45340357	45340357	+	Missense_Mutation	SNP	C	C	G	rs113994026		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:45340357C>G	ENST00000360403.2	-	10	1321	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	EIF2B3_ENST00000372183.3_Missense_Mutation_p.E399Q	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	399					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)	p.E399Q(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TACCCTTCCTCCACAGTGACT	0.393																																					Colon(26;357 658 2581 11857 12657)	uc001cmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1195-1197)GAG>CAG		eukaryotic translation initiation factor 2B,							132.0	121.0	125.0					1																	45340357		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45340357C>G	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1195G>C	1.37:g.45340357C>G	ENSP00000353575:p.Glu399Gln					EIF2B3_uc001cmu.1_Missense_Mutation_p.E399Q|EIF2B3_uc001cmv.1_Missense_Mutation_p.E373Q|EIF2B3_uc001cmw.2_Missense_Mutation_p.E399Q	p.E399Q	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN			10	1322	-	Acute lymphoblastic leukemia(166;0.155)		399					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.1195G>C	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.02|15.02	2.710342|2.710342	0.48517|0.48517	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000360403;ENST00000372183|ENST00000439363	T;D|.	0.91068|.	0.52;-2.78|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.092793|.	0.64402|.	D|.	0.000001|.	T|T	0.73583|0.73583	0.3605|0.3605	M|M	0.70842|0.70842	2.15|2.15	0.58432|0.58432	D|D	0.999991|0.999991	B;P;B|.	0.38395|.	0.203;0.629;0.373|.	B;B;B|.	0.38880|.	0.142;0.284;0.212|.	T|T	0.72874|0.72874	-0.4160|-0.4160	10|5	0.21540|.	T|.	0.41|.	-25.3719|-25.3719	14.9704|14.9704	0.71229|0.71229	0.0:0.8577:0.1423:0.0|0.0:0.8577:0.1423:0.0	.|.	399;399;399|.	Q9NR50-2;Q9NR50-3;Q9NR50|.	.;.;EI2BG_HUMAN|.	Q|C	399|219	ENSP00000353575:E399Q;ENSP00000361257:E399Q|.	ENSP00000353575:E399Q|.	E|W	-|-	1|3	0|0	EIF2B3|EIF2B3	45112944|45112944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.117000|5.117000	0.64667|0.64667	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	GAG|TGG		PASS	0.393	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		16	67	16	67	---	---	---	---
C8B	732	broad.mit.edu	37	1	57415411	57415411	+	Silent	SNP	G	G	A	rs138606922	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:57415411G>A	ENST00000371237.4	-	6	747	c.681C>T	c.(679-681)taC>taT	p.Y227Y	C8B_ENST00000543257.1_Silent_p.Y175Y|C8B_ENST00000535057.1_Silent_p.Y165Y	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	227	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.Y227Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATATGAATTCGTATTTGCCTT	0.348													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		20459	0.0		0.0	False		,,,				2504	0.0					uc001cyp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(679-681)TAC>TAT		complement component 8, beta polypeptide		G		18,4388	25.3+/-52.1	0,18,2185	57.0	56.0	56.0		681	-4.9	1.0	1	dbSNP_134	56	0,8598		0,0,4299	no	coding-synonymous	C8B	NM_000066.2		0,18,6484	AA,AG,GG		0.0,0.4085,0.1384		227/592	57415411	18,12986	2203	4299	6502	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57415411G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.681C>T	1.37:g.57415411G>A						C8B_uc010oon.1_Silent_p.Y165Y|C8B_uc010ooo.1_Silent_p.Y175Y	p.Y227Y	NM_000066	NP_000057	P07358	CO8B_HUMAN			6	748	-			227			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.681C>T	CCDS30730.1																																																																																				PASS	0.348	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			9	19	9	19	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62739162	62739162	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:62739162G>T	ENST00000371153.4	-	3	1992	c.1614C>A	c.(1612-1614)acC>acA	p.T538T	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	538						cytoplasm (GO:0005737)		p.T538T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GATTGGAACTGGTCTCCTCCC	0.612																																						uc001dah.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(1612-1614)ACC>ACA		ankyrin repeat domain 38							60.0	59.0	59.0					1																	62739162		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62739162G>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1614C>A	1.37:g.62739162G>T						KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.T538T	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1991	-			538					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.1614C>A	CCDS620.1																																																																																				PASS	0.612	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		22	14	22	14	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67138998	67138998	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:67138998C>T	ENST00000371037.4	+	12	672	c.595C>T	c.(595-597)Cct>Tct	p.P199S	SGIP1_ENST00000371035.3_Missense_Mutation_p.P156S|SGIP1_ENST00000237247.6_Missense_Mutation_p.P203S|SGIP1_ENST00000371039.1_Missense_Mutation_p.P167S|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.P166S|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	199	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.P199S(1)|p.P167S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGCCCTTGCTCCTCTCTTTGG	0.358																																						uc001dcr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(595-597)CCT>TCT		SH3-domain GRB2-like (endophilin) interacting							178.0	186.0	183.0					1																	67138998		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67138998C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.595C>T	1.37:g.67138998C>T	ENSP00000360076:p.Pro199Ser					SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR|uc010ope.1_Intron|SGIP1_uc009wat.2_5'UTR	p.P199S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			12	812	+			199			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.595C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183598	0.57800	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.02837	4.14;4.14;4.14;4.14;4.14;4.14	5.73	5.73	0.89815	.	0.179565	0.50627	D	0.000110	T	0.01222	0.0040	L	0.35341	1.055	0.36245	D	0.853547	P	0.37781	0.608	B	0.32090	0.14	T	0.64032	-0.6502	10	0.30078	T	0.28	-13.9986	14.1186	0.65172	0.0:0.8496:0.1503:0.0	.	199	Q9BQI5	SGIP1_HUMAN	S	203;167;191;156;202;202;166;199	ENSP00000237247:P203S;ENSP00000360078:P167S;ENSP00000410439:P191S;ENSP00000360074:P156S;ENSP00000360075:P166S;ENSP00000360076:P199S	ENSP00000237247:P203S	P	+	1	0	SGIP1	66911586	0.866000	0.29940	1.000000	0.80357	0.710000	0.40934	3.169000	0.50809	2.718000	0.92993	0.650000	0.86243	CCT		PASS	0.358	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		32	141	32	141	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68903988	68903988	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:68903988A>C	ENST00000262340.5	-	10	1063	c.1010T>G	c.(1009-1011)gTt>gGt	p.V337G		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	337					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.V337G(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTAATTATAAACAAACTCAAA	0.353																																						uc001dei.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1009-1011)GTT>GGT		retinal pigment epithelium-specific protein							45.0	47.0	47.0					1																	68903988		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68903988A>C	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1010T>G	1.37:g.68903988A>C	ENSP00000262340:p.Val337Gly						p.V337G	NM_000329	NP_000320	Q16518	RPE65_HUMAN			10	1064	-			337					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.1010T>G	CCDS643.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546697	0.86022	.	.	ENSG00000116745	ENST00000262340	D	0.95272	-3.66	5.71	5.71	0.89125	.	0.053105	0.85682	D	0.000000	D	0.97037	0.9032	M	0.82630	2.6	0.80722	D	1	D	0.65815	0.995	D	0.85130	0.997	D	0.97862	1.0281	10	0.87932	D	0	-10.8845	15.9657	0.79968	1.0:0.0:0.0:0.0	.	337	Q16518	RPE65_HUMAN	G	337	ENSP00000262340:V337G	ENSP00000262340:V337G	V	-	2	0	RPE65	68676576	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.851000	0.92205	2.175000	0.68902	0.482000	0.46254	GTT		PASS	0.353	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		8	13	8	13	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70503946	70503946	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:70503946C>A	ENST00000035383.5	+	19	2355	c.2325C>A	c.(2323-2325)gaC>gaA	p.D775E	LRRC7_ENST00000310961.5_Missense_Mutation_p.D780E|LRRC7_ENST00000415775.2_Missense_Mutation_p.D59E	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	775						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D775E(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGCATTATGACAACACAGGGT	0.517																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2323-2325)GAC>GAA		leucine rich repeat containing 7							151.0	136.0	141.0					1																	70503946		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70503946C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2325C>A	1.37:g.70503946C>A	ENSP00000035383:p.Asp775Glu					LRRC7_uc009wbg.2_Missense_Mutation_p.D59E|LRRC7_uc001deq.2_Missense_Mutation_p.D16E	p.D775E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2355	+			775					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2325C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523842	0.44866	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.56941	0.43;0.54;1.64	5.68	-8.97	0.00758	.	0.053680	0.64402	D	0.000001	T	0.45418	0.1341	L	0.47716	1.5	0.30525	N	0.768005	D;D;D	0.89917	1.0;0.996;0.996	D;D;P	0.85130	0.997;0.99;0.754	T	0.69075	-0.5241	10	0.25106	T	0.35	.	20.3404	0.98760	0.0:0.7282:0.0:0.2718	.	59;775;775	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	E	780;775;59;598	ENSP00000309245:D780E;ENSP00000035383:D775E;ENSP00000394867:D59E	ENSP00000035383:D775E	D	+	3	2	LRRC7	70276534	0.128000	0.22383	0.458000	0.27068	0.399000	0.30720	-0.467000	0.06664	-1.999000	0.00967	0.467000	0.42956	GAC		PASS	0.517	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		39	50	39	50	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74836026	74836026	+	Missense_Mutation	SNP	G	G	T	rs199899961		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:74836026G>T	ENST00000370899.3	+	19	2062	c.2025G>T	c.(2023-2025)atG>atT	p.M675I	TNNI3K_ENST00000370891.2_Missense_Mutation_p.M675I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.M574I|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.M688I|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.M675I	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.M574I(1)									CCAAAGGCATGGAGTACCTTC	0.348																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1720-1722)ATG>ATT		TNNI3 interacting kinase isoform b							110.0	107.0	108.0					1																	74836026		2203	4299	6502	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74836026G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2025G>T	1.37:g.74836026G>T	ENSP00000359936:p.Met675Ile					TNNI3K_uc001dgc.1_Missense_Mutation_p.M675I|TNNI3K_uc001dgd.2_Missense_Mutation_p.M675I|TNNI3K_uc001dge.1_Missense_Mutation_p.M675I	p.M574I	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			17	1773	+			574			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1722G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.780889|4.780889	0.90282|0.90282	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020|ENST00000526236;ENST00000525480	T;T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38;1.38|.	5.76|5.76	4.85|4.85	0.62838|0.62838	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52370|0.52370	0.1730|0.1730	L|L	0.52823|0.52823	1.66|1.66	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;P|.	0.69078|.	0.997;0.982;0.982;0.908|.	D;D;D;D|.	0.79108|.	0.992;0.961;0.961;0.922|.	T|T	0.53070|0.53070	-0.8490|-0.8490	10|5	0.87932|.	D|.	0|.	.|.	14.5827|14.5827	0.68302|0.68302	0.0697:0.0:0.9302:0.0|0.0697:0.0:0.9302:0.0	.|.	574;675;675;675|.	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3|.	TNI3K_HUMAN;.;.;.|.	I|L	675;675;675;675;574;98|121;94	ENSP00000359936:M675I;ENSP00000359932:M675I;ENSP00000450895:M675I;ENSP00000359928:M675I;ENSP00000322251:M574I;ENSP00000434975:M98I|.	ENSP00000322251:M574I|.	M|W	+|+	3|2	0|0	RP11-653A5.2;AC093158.1|AC093158.1	74608614|74608614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.396000|7.396000	0.79891|0.79891	1.445000|1.445000	0.47624|0.47624	0.650000|0.650000	0.86243|0.86243	ATG|TGG		PASS	0.348	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			4	18	4	18	---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75622726	75622726	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:75622726G>T	ENST00000294638.5	+	9	1623	c.959G>T	c.(958-960)gGa>gTa	p.G320V	LHX8_ENST00000356261.3_Missense_Mutation_p.G310V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	320					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G320V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCCCAAGATGGAACGATGTTA	0.478																																						uc001dgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(958-960)GGA>GTA		LIM homeobox 8							216.0	189.0	198.0					1																	75622726		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622726G>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.959G>T	1.37:g.75622726G>T	ENSP00000294638:p.Gly320Val					LHX8_uc001dgq.2_Missense_Mutation_p.G259V	p.G320V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			9	1623	+			320					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.959G>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002155	0.54254	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86627	-2.15;-2.13	5.36	5.36	0.76844	.	0.096296	0.64402	D	0.000001	D	0.86251	0.5888	L	0.40543	1.245	0.80722	D	1	D	0.64830	0.994	P	0.56612	0.802	D	0.83490	0.0069	10	0.28530	T	0.3	.	19.4798	0.95005	0.0:0.0:1.0:0.0	.	320	Q68G74	LHX8_HUMAN	V	320;310	ENSP00000294638:G320V;ENSP00000348597:G310V	ENSP00000294638:G320V	G	+	2	0	LHX8	75395314	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.234000	0.78134	2.683000	0.91414	0.557000	0.71058	GGA		PASS	0.478	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		19	38	19	38	---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85331112	85331112	+	Missense_Mutation	SNP	C	C	A	rs35745543	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:85331112C>A	ENST00000440886.1	-	1	730	c.692G>T	c.(691-693)cGg>cTg	p.R231L	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.R231L			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	231			R -> Q (in dbSNP:rs35745543).		activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.R231L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GGGTGTCCTCCGGCGGCTGAT	0.502																																						uc001dkl.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(691-693)CGG>CTG		lysophosphatidic acid receptor 3							70.0	56.0	60.0					1																	85331112		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331112C>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.692G>T	1.37:g.85331112C>A	ENSP00000395389:p.Arg231Leu					LPAR3_uc009wcj.1_Missense_Mutation_p.R231L	p.R231L	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	731	-			231			Cytoplasmic (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.692G>T	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299425	0.81136	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37752	1.18;1.18	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.051666	0.85682	D	0.000000	T	0.54581	0.1867	M	0.85041	2.73	0.44302	D	0.997175	D	0.63046	0.992	P	0.57846	0.828	T	0.63786	-0.6558	10	0.72032	D	0.01	.	18.7607	0.91849	0.0:1.0:0.0:0.0	.	231	Q9UBY5	LPAR3_HUMAN	L	231	ENSP00000395389:R231L;ENSP00000359643:R231L	ENSP00000359643:R231L	R	-	2	0	LPAR3	85103700	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.642000	0.67888	2.437000	0.82529	0.650000	0.86243	CGG		PASS	0.502	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		11	22	11	22	---	---	---	---
ZNF326	284695	broad.mit.edu	37	1	90482967	90482967	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:90482967T>G	ENST00000340281.4	+	8	1161	c.1018T>G	c.(1018-1020)Tta>Gta	p.L340V	ZNF326_ENST00000455342.2_Missense_Mutation_p.L134V|ZNF326_ENST00000370447.3_Missense_Mutation_p.L251V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	340					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.L340V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TCAGGAAACATTAGATCATAT	0.299																																						uc001dnq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1018-1020)TTA>GTA		zinc finger protein 326 isoform 1							65.0	66.0	66.0					1																	90482967		2200	4291	6491	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90482967T>G	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1018T>G	1.37:g.90482967T>G	ENSP00000340796:p.Leu340Val					ZNF326_uc009wda.1_Missense_Mutation_p.L251V|ZNF326_uc001dnr.2_Missense_Mutation_p.L134V	p.L340V	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	8	1157	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	340					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1018T>G	CCDS727.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400544	0.62177	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.54279	0.58;0.58;0.58	5.48	1.96	0.26148	.	0.000000	0.64402	D	0.000006	T	0.55049	0.1896	M	0.62723	1.935	0.40915	D	0.984264	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.58171	-0.7683	10	0.59425	D	0.04	-5.6418	9.4085	0.38477	0.0:0.2787:0.0:0.7213	.	340;340	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	V	340;340;251;134	ENSP00000340796:L340V;ENSP00000359476:L251V;ENSP00000403470:L134V	ENSP00000340796:L340V	L	+	1	2	ZNF326	90255555	0.545000	0.26449	1.000000	0.80357	0.990000	0.78478	0.439000	0.21575	0.395000	0.25257	0.529000	0.55759	TTA		PASS	0.299	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		8	33	8	33	---	---	---	---
SLC44A3	126969	broad.mit.edu	37	1	95294132	95294132	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:95294132G>T	ENST00000271227.6	+	5	601	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	SLC44A3_ENST00000532427.1_Missense_Mutation_p.V87F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.V99F|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.V135F|SLC44A3_ENST00000467909.1_Missense_Mutation_p.V119F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.V131F	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	167					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V119F(1)|p.V167F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CAGGCTACCAGTTCCTCCAAG	0.438																																						uc001dqv.3																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(499-501)GTT>TTT		solute carrier family 44, member 3 isoform 1	Choline(DB00122)						129.0	122.0	125.0					1																	95294132		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95294132G>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.499G>T	1.37:g.95294132G>T	ENSP00000271227:p.Val167Phe					SLC44A3_uc001dqx.3_Missense_Mutation_p.V167F|SLC44A3_uc010otq.1_Missense_Mutation_p.V99F|SLC44A3_uc010otr.1_Missense_Mutation_p.V131F|SLC44A3_uc001dqw.3_Missense_Mutation_p.V119F|SLC44A3_uc010ots.1_Missense_Mutation_p.V87F|SLC44A3_uc009wds.2_Missense_Mutation_p.V70F|SLC44A3_uc010ott.1_Missense_Mutation_p.V87F|SLC44A3_uc010otu.1_RNA	p.V167F	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	5	606	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	167					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.499G>T	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444498	0.63178	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000422520;ENST00000532427	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;2.07;2.06;2.58;-1.4;2.06	5.31	4.38	0.52667	.	0.105759	0.41500	D	0.000874	D	0.86879	0.6039	M	0.82716	2.605	0.47778	D	0.999512	D;D;D;D;D	0.65815	0.986;0.995;0.986;0.986;0.986	P;D;P;P;P	0.69142	0.741;0.962;0.741;0.66;0.741	D	0.85677	0.1298	10	0.38643	T	0.18	-21.1905	13.8409	0.63437	0.0799:0.0:0.9201:0.0	.	87;131;99;135;167	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	F	131;167;99;135;119;119;87	ENSP00000389143:V131F;ENSP00000271227:V167F;ENSP00000433641:V99F;ENSP00000431836:V135F;ENSP00000432789:V119F;ENSP00000410832:V119F;ENSP00000436661:V87F	ENSP00000271227:V167F	V	+	1	0	SLC44A3	95066720	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	5.153000	0.64888	2.636000	0.89361	0.655000	0.94253	GTT		PASS	0.438	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		4	72	4	72	---	---	---	---
DBT	1629	broad.mit.edu	37	1	100681747	100681747	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:100681747C>T	ENST00000370132.4	-	6	577	c.564G>A	c.(562-564)ctG>ctA	p.L188L	DBT_ENST00000370131.3_Silent_p.L188L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	188					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.L188L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CAACTTCACTCAGCTTAATCT	0.313																																						uc001dta.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(562-564)CTG>CTA		dihydrolipoamide branched chain transacylase							100.0	97.0	98.0					1																	100681747		2203	4300	6503	SO:0001819	synonymous_variant	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681747C>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.564G>A	1.37:g.100681747C>T						DBT_uc010oug.1_Silent_p.L7L	p.L188L	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	6	597	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	188					B2R811|Q5VVL8	Silent	SNP	ENST00000370132.4	37	c.564G>A	CCDS767.1																																																																																				PASS	0.313	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		10	36	10	36	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103380328	103380328	+	Missense_Mutation	SNP	G	G	A	rs374625601		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:103380328G>A	ENST00000370096.3	-	51	4168	c.3856C>T	c.(3856-3858)Cca>Tca	p.P1286S	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1247S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1170S|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1298S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1286	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1286S(1)|p.P1298S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTCCAGGTGGACCAGCTTCC	0.473																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3856-3858)CCA>TCA		alpha 1 type XI collagen isoform A							49.0	48.0	49.0					1																	103380328		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103380328G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3856C>T	1.37:g.103380328G>A	ENSP00000359114:p.Pro1286Ser					COL11A1_uc001duk.2_Missense_Mutation_p.P482S|COL11A1_uc001dum.2_Missense_Mutation_p.P1298S|COL11A1_uc001dun.2_Missense_Mutation_p.P1247S|COL11A1_uc009weh.2_Missense_Mutation_p.P1170S	p.P1286S	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	51	4174	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1286			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3856C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037978	0.54896	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97665	-3.34;-4.06;-4.48;-4.48	5.73	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.93341	0.7877	L	0.28504	0.86	0.80722	D	1	B;B;P;B;B	0.41524	0.0;0.001;0.753;0.001;0.0	B;B;P;B;B	0.49012	0.001;0.003;0.598;0.001;0.002	D	0.92147	0.5725	10	0.45353	T	0.12	.	11.4664	0.50241	0.0677:0.1263:0.806:0.0	.	1170;1247;1298;1286;506	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1286;1298;1247;506;1170	ENSP00000359114:P1286S;ENSP00000351163:P1298S;ENSP00000302551:P1247S;ENSP00000426533:P1170S	ENSP00000302551:P1247S	P	-	1	0	COL11A1	103152916	1.000000	0.71417	0.029000	0.17559	0.942000	0.58702	4.513000	0.60476	0.772000	0.33382	0.591000	0.81541	CCA		PASS	0.473	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	13	4	13	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103471654	103471654	+	Silent	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:103471654T>C	ENST00000370096.3	-	17	2073	c.1761A>G	c.(1759-1761)ggA>ggG	p.G587G	COL11A1_ENST00000353414.4_Silent_p.G548G|COL11A1_ENST00000512756.1_Silent_p.G471G|COL11A1_ENST00000358392.2_Silent_p.G599G|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	587	Collagen-like 3.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G599G(1)|p.G587G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCATTCCTCTTCCTCCATCTG	0.363																																						uc001dul.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1759-1761)GGA>GGG		alpha 1 type XI collagen isoform A							63.0	62.0	62.0					1																	103471654		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471654T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1761A>G	1.37:g.103471654T>C						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.G599G|COL11A1_uc001dun.2_Silent_p.G548G|COL11A1_uc009weh.2_Silent_p.G471G	p.G587G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	17	2079	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	587			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1761A>G	CCDS778.1																																																																																				PASS	0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		8	32	8	32	---	---	---	---
GSTM5	2949	broad.mit.edu	37	1	110255769	110255769	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:110255769G>T	ENST00000256593.3	+	3	199	c.141G>T	c.(139-141)ctG>ctT	p.L47L	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000369812.5_Silent_p.L47L	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	47	GST N-terminal.|Glutathione binding. {ECO:0000250}.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)	p.L47L(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCCAGTGGCTGAATGAAAAAT	0.567																																						uc001dyn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)	6						c.(139-141)CTG>CTT		glutathione S-transferase mu 5	Glutathione(DB00143)						56.0	57.0	57.0					1																	110255769		2203	4300	6503	SO:0001819	synonymous_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110255769G>T	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.141G>T	1.37:g.110255769G>T						GSTM5_uc010ovu.1_5'UTR	p.L47L	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	3	212	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	47			Glutathione binding (By similarity).|GST N-terminal.		A8K0V8|Q6PD78	Silent	SNP	ENST00000256593.3	37	c.141G>T	CCDS811.1																																																																																				PASS	0.567	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		16	34	16	34	---	---	---	---
ZNF697	90874	broad.mit.edu	37	1	120165764	120165764	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:120165764C>T	ENST00000421812.2	-	3	1321	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	401					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.R401H(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CGTGTGCACGCGCTGGTGCTT	0.667																																						uc001ehy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1201-1203)CGC>CAC		zinc finger protein 697							16.0	17.0	16.0					1																	120165764		2200	4296	6496	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165764C>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1202G>A	1.37:g.120165764C>T	ENSP00000396857:p.Arg401His						p.R401H	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1316	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	401			C2H2-type 6.		Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1202G>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143314	0.37825	.	.	ENSG00000143067	ENST00000421812	T	0.02446	4.29	4.77	3.86	0.44501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	M	0.83774	2.66	0.27371	N	0.955686	D	0.89917	1.0	D	0.83275	0.996	T	0.07102	-1.0790	9	0.72032	D	0.01	.	11.0665	0.47979	0.0:0.9078:0.0:0.0922	.	401	Q5TEC3	ZN697_HUMAN	H	401	ENSP00000396857:R401H	ENSP00000396857:R401H	R	-	2	0	ZNF697	119967287	0.994000	0.37717	1.000000	0.80357	0.032000	0.12392	3.182000	0.50910	1.163000	0.42636	-0.251000	0.11542	CGC		PASS	0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		6	9	6	9	---	---	---	---
ANKRD34A	284615	broad.mit.edu	37	1	145474241	145474241	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:145474241G>C	ENST00000323397.4	+	4	2206	c.913G>C	c.(913-915)Gtg>Ctg	p.V305L	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	305	Pro-rich.					cytoplasm (GO:0005737)		p.V305L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCGGAGAAAGTGACTAGCGG	0.637																																						uc001enq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)GTG>CTG		ankyrin repeat domain 34							28.0	34.0	32.0					1																	145474241		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145474241G>C	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.913G>C	1.37:g.145474241G>C	ENSP00000314103:p.Val305Leu					NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	p.V305L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	2206	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		305			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.913G>C	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747144	0.15710	.	.	ENSG00000181039	ENST00000323397	T	0.72942	-0.7	4.94	4.94	0.65067	.	2.396880	0.01907	N	0.039563	T	0.45256	0.1333	L	0.27053	0.805	0.43412	D	0.995556	B	0.21225	0.053	B	0.09377	0.004	T	0.03166	-1.1065	10	0.10902	T	0.67	-16.8672	15.7651	0.78120	0.0:0.0:1.0:0.0	.	305	Q69YU3	AN34A_HUMAN	L	305	ENSP00000314103:V305L	ENSP00000314103:V305L	V	+	1	0	ANKRD34A	144185598	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	2.877000	0.48506	2.574000	0.86865	0.454000	0.30748	GTG		PASS	0.637	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			6	38	6	38	---	---	---	---
BOLA1	51027	broad.mit.edu	37	1	149871805	149871805	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:149871805G>A	ENST00000369153.2	+	3	857	c.193G>A	c.(193-195)Gag>Aag	p.E65K	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.E65K|BOLA1_ENST00000369150.1_Missense_Mutation_p.E65K			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	65						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.E65K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCTGGCAGTGAGACTCACTT	0.677																																						uc001etf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)GAG>AAG		bolA-like 1							39.0	36.0	37.0					1																	149871805		2203	4298	6501	SO:0001583	missense	51027					extracellular region	protein binding	g.chr1:149871805G>A	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.193G>A	1.37:g.149871805G>A	ENSP00000358149:p.Glu65Lys						p.E65K	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		2	314	+	Breast(34;0.0124)|all_hematologic(923;0.127)		65					B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	c.193G>A	CCDS939.1	.	.	.	.	.	.	.	.	.	.	G	35	5.575797	0.96553	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.65178	-0.14;-0.14;-0.14	5.35	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.78648	0.4316	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82070	-0.0639	10	0.87932	D	0	0.0065	11.3972	0.49849	0.0881:0.0:0.9119:0.0	.	65	Q9Y3E2	BOLA1_HUMAN	K	65	ENSP00000358149:E65K;ENSP00000358148:E65K;ENSP00000358146:E65K	ENSP00000358146:E65K	E	+	1	0	BOLA1	148138429	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.527000	0.73803	2.668000	0.90789	0.462000	0.41574	GAG		PASS	0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		7	17	7	17	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281417	152281417	+	Missense_Mutation	SNP	G	G	T	rs368808067		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:152281417G>T	ENST00000368799.1	-	3	5980	c.5945C>A	c.(5944-5946)aCa>aAa	p.T1982K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1982	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T1982K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGACTCTGTGTGACGAGT	0.572									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5944-5946)ACA>AAA		filaggrin							527.0	425.0	459.0					1																	152281417		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281417G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5945C>A	1.37:g.152281417G>T	ENSP00000357789:p.Thr1982Lys						p.T1982K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5981	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1982			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5945C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	9.456	1.091915	0.20471	.	.	ENSG00000143631	ENST00000368799	T	0.00792	5.69	2.36	-2.54	0.06307	.	.	.	.	.	T	0.00210	0.0006	L	0.36672	1.1	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.38607	-0.9653	9	0.06365	T	0.9	.	10.8319	0.46665	0.0:0.7321:0.2679:0.0	.	1982	P20930	FILA_HUMAN	K	1982	ENSP00000357789:T1982K	ENSP00000357789:T1982K	T	-	2	0	FLG	150548041	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.417000	0.07088	-0.712000	0.04988	-0.514000	0.04452	ACA		PASS	0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		190	209	190	209	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285257	152285257	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:152285257G>C	ENST00000368799.1	-	3	2140	c.2105C>G	c.(2104-2106)tCa>tGa	p.S702*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	702	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S702*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCACTTGATCTTGCCTG	0.552									Ichthyosis																													uc001ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2104-2106)TCA>TGA		filaggrin							392.0	393.0	393.0					1																	152285257		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285257G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2105C>G	1.37:g.152285257G>C	ENSP00000357789:p.Ser702*					uc001ezv.2_5'Flank	p.S702*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2141	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		702			Filaggrin 4.|Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.2105C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	34	5.311335	0.95655	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.14	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.6386	8.2649	0.31808	0.0:0.2461:0.7539:0.0	.	.	.	.	X	702	.	ENSP00000357789:S702X	S	-	2	0	FLG	150551881	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.424000	0.34848	0.648000	0.30732	0.586000	0.80456	TCA		PASS	0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		191	247	191	247	---	---	---	---
YY1AP1	55249	broad.mit.edu	37	1	155629621	155629621	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:155629621C>T	ENST00000295566.4	-	11	2241	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	YY1AP1_ENST00000368339.5_Missense_Mutation_p.E832K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E694K|YY1AP1_ENST00000368340.5_Missense_Mutation_p.E812K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E694K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E683K|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E663K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E683K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E694K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E674K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E540K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E663K	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	740					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E832K(1)|p.E740K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCACTGTTCTCTGACAATCCT	0.537																																						uc001fln.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2218-2220)GAG>AAG		YY1-associated protein isoform 2							147.0	133.0	138.0					1																	155629621		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629621C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2218G>A	1.37:g.155629621C>T	ENSP00000295566:p.Glu740Lys					YY1AP1_uc001flg.2_Missense_Mutation_p.E479K|YY1AP1_uc010pgg.1_Missense_Mutation_p.E579K|YY1AP1_uc010pgh.1_Missense_Mutation_p.E683K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E832K|YY1AP1_uc001flh.2_Missense_Mutation_p.E812K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E663K|YY1AP1_uc001flk.2_Missense_Mutation_p.E683K|YY1AP1_uc001fll.2_Missense_Mutation_p.E694K|YY1AP1_uc009wqv.2_Missense_Mutation_p.E411K|YY1AP1_uc001flm.2_Missense_Mutation_p.E683K|YY1AP1_uc001fli.2_Missense_Mutation_p.E694K|YY1AP1_uc009wqu.2_Missense_Mutation_p.E527K|YY1AP1_uc001flj.2_Missense_Mutation_p.E674K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E663K|YY1AP1_uc001flo.2_Missense_Mutation_p.E628K|YY1AP1_uc001flp.2_Missense_Mutation_p.E694K	p.E740K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	2242	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		740					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2218G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.779247	0.49891	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.27720	1.71;1.71;1.73;1.71;1.71;1.68;1.71;1.71;1.73;1.72;1.65;1.74	2.57	2.57	0.30868	.	0.165316	0.42682	D	0.000665	T	0.25121	0.0610	M	0.62723	1.935	0.19945	N	0.999946	B;P;P;B;D	0.55605	0.034;0.94;0.811;0.204;0.972	B;P;P;B;P	0.57846	0.032;0.62;0.828;0.046;0.737	T	0.02789	-1.1110	10	0.39692	T	0.17	.	5.4099	0.16342	0.0:0.8351:0.0:0.1649	.	832;674;740;694;812	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	K	683;694;663;694;683;812;740;694;663;674;832;540	ENSP00000352134:E683K;ENSP00000347686:E694K;ENSP00000311138:E663K;ENSP00000316079:E694K;ENSP00000355298:E683K;ENSP00000357324:E812K;ENSP00000295566:E740K;ENSP00000357314:E694K;ENSP00000385791:E663K;ENSP00000385390:E674K;ENSP00000357323:E832K;ENSP00000437926:E540K	ENSP00000295566:E740K	E	-	1	0	YY1AP1	153896245	0.041000	0.20044	0.038000	0.18304	0.897000	0.52465	1.798000	0.38814	1.424000	0.47217	0.313000	0.20887	GAG		PASS	0.537	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		18	61	18	61	---	---	---	---
TMEM79	84283	broad.mit.edu	37	1	156256056	156256056	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:156256056C>A	ENST00000405535.2	+	3	934	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	TMEM79_ENST00000357501.2_Missense_Mutation_p.P16H|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.L255M	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	255					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.L255M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCCAGGGATCCTGGTGTACGG	0.607																																						uc010phi.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(763-765)CTG>ATG		transmembrane protein 79							81.0	79.0	80.0					1																	156256056		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156256056C>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.763C>A	1.37:g.156256056C>A	ENSP00000384748:p.Leu255Met					TMEM79_uc001fod.2_Missense_Mutation_p.L96M|TMEM79_uc009wrw.2_Missense_Mutation_p.L255M	p.L255M	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			3	959	+	Hepatocellular(266;0.158)		255			Helical; (Potential).		B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.763C>A	CCDS1138.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.84|17.84	3.487688|3.487688	0.64074|0.64074	.|.	.|.	ENSG00000163472|ENSG00000163472	ENST00000295694;ENST00000405535|ENST00000357501;ENST00000456810	T;T|.	0.53423|.	0.62;0.62|.	5.93|5.93	5.02|5.02	0.67125|0.67125	.|.	0.168818|.	0.40640|.	N|.	0.001047|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.29908|0.29908	0.895|0.895	0.42362|0.42362	D|D	0.992414|0.992414	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.42207|0.42207	-0.9465|-0.9465	10|6	0.56958|0.87932	D|D	0.05|0	-13.7945|-13.7945	8.0499|8.0499	0.30572|0.30572	0.1569:0.7631:0.0:0.08|0.1569:0.7631:0.0:0.08	.|.	255|.	Q9BSE2|.	TMM79_HUMAN|.	M|H	255|16	ENSP00000295694:L255M;ENSP00000384748:L255M|.	ENSP00000295694:L255M|ENSP00000350100:P16H	L|P	+|+	1|2	2|0	TMEM79|TMEM79	154522680|154522680	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.809000|0.809000	0.27168|0.27168	1.517000|1.517000	0.48917|0.48917	0.561000|0.561000	0.74099|0.74099	CTG|CCT		PASS	0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		5	53	5	53	---	---	---	---
OR10J5	127385	broad.mit.edu	37	1	159504988	159504988	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:159504988G>T	ENST00000334857.2	-	1	854	c.810C>A	c.(808-810)gaC>gaA	p.D270E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D270E(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGAGAACAAGGTCTTTTTCTA	0.483																																						uc010piw.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(808-810)GAC>GAA		olfactory receptor, family 10, subfamily J,							90.0	87.0	88.0					1																	159504988		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159504988G>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.810C>A	1.37:g.159504988G>T	ENSP00000334441:p.Asp270Glu						p.D270E	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	810	-	all_hematologic(112;0.0429)		270			Extracellular (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.810C>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185240	0.38609	.	.	ENSG00000184155	ENST00000334857	T	0.00227	8.5	3.94	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.71036	2.16	0.29032	N	0.885652	P	0.51057	0.941	P	0.59012	0.85	T	0.26292	-1.0107	9	0.54805	T	0.06	.	7.1495	0.25601	0.2299:0.0:0.7701:0.0	.	270	Q8NHC4	O10J5_HUMAN	E	270	ENSP00000334441:D270E	ENSP00000334441:D270E	D	-	3	2	OR10J5	157771612	0.000000	0.05858	0.986000	0.45419	0.021000	0.10359	-0.077000	0.11394	0.394000	0.25230	0.491000	0.48974	GAC		PASS	0.483	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		15	24	15	24	---	---	---	---
ITLN2	142683	broad.mit.edu	37	1	160920480	160920480	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:160920480G>C	ENST00000368029.3	-	5	520	c.463C>G	c.(463-465)Cag>Gag	p.Q155E	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	155	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.Q155E(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCTTGGCCTGGATGTCGTAG	0.592																																						uc001fxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)CAG>GAG		intelectin 2 precursor							117.0	101.0	106.0					1																	160920480		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160920480G>C	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.463C>G	1.37:g.160920480G>C	ENSP00000357008:p.Gln155Glu					ITLN2_uc009wts.2_Missense_Mutation_p.Q154E|ITLN2_uc010pju.1_Missense_Mutation_p.Q72E	p.Q155E	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	521	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		155			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.463C>G	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795279	0.16327	.	.	ENSG00000158764	ENST00000368029	T	0.16457	2.34	4.47	2.5	0.30297	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.473365	0.16848	U	0.197051	T	0.03783	0.0107	L	0.58583	1.82	0.23524	N	0.997498	B;B	0.16396	0.017;0.007	B;B	0.15484	0.006;0.013	T	0.47289	-0.9129	10	0.02654	T	1	-3.2727	6.9585	0.24583	0.0962:0.0:0.731:0.1728	.	154;155	A6NI51;Q8WWU7	.;ITLN2_HUMAN	E	155	ENSP00000357008:Q155E	ENSP00000357008:Q155E	Q	-	1	0	ITLN2	159187104	0.879000	0.30193	0.999000	0.59377	0.797000	0.45037	1.264000	0.33015	0.374000	0.24650	0.561000	0.74099	CAG		PASS	0.592	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		7	46	7	46	---	---	---	---
F5	2153	broad.mit.edu	37	1	169519234	169519234	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:169519234G>C	ENST00000367797.3	-	10	1617	c.1416C>G	c.(1414-1416)atC>atG	p.I472M	F5_ENST00000367796.3_Missense_Mutation_p.I472M|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	472	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.I472M(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAACTGCTCTGATCATGGTGT	0.343																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1414-1416)ATC>ATG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						178.0	162.0	168.0					1																	169519234		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519234G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1416C>G	1.37:g.169519234G>C	ENSP00000356771:p.Ile472Met					F5_uc010plr.1_RNA	p.I472M	NM_000130	NP_000121	P12259	FA5_HUMAN			10	1561	-	all_hematologic(923;0.208)		472			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1416C>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974830	0.34848	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98914	-5.23;-5.23	5.64	2.61	0.31194	Cupredoxin (2);	0.587434	0.15752	N	0.246359	D	0.90150	0.6922	N	0.14661	0.345	0.24968	N	0.991689	P	0.41265	0.744	B	0.39027	0.288	D	0.87499	0.2432	9	0.46703	T	0.11	-7.0646	1.7746	0.03019	0.2119:0.1559:0.474:0.1583	.	472	P12259	FA5_HUMAN	M	472	ENSP00000356771:I472M;ENSP00000356770:I472M	ENSP00000356770:I472M	I	-	3	3	F5	167785858	0.990000	0.36364	0.996000	0.52242	0.909000	0.53808	0.881000	0.28173	0.681000	0.31386	-0.227000	0.12334	ATC		PASS	0.343	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		30	50	30	50	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175046647	175046647	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:175046647C>A	ENST00000239462.4	+	2	206	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	31					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.P31P(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)		TGGAGCCTCCCGGCTGCAGCA	0.602																																						uc001gkl.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(91-93)CCC>CCA		tenascin N precursor							61.0	55.0	57.0					1																	175046647		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046647C>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.93C>A	1.37:g.175046647C>A						TNN_uc010pmx.1_Silent_p.P31P	p.P31P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	206	+		Breast(1374;0.000962)	31					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.93C>A	CCDS30943.1																																																																																				PASS	0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		16	18	16	18	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175306756	175306756	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:175306756A>C	ENST00000367674.2	-	19	4150	c.3442T>G	c.(3442-3444)Ttg>Gtg	p.L1148V	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.L1148V			Q92752	TENR_HUMAN	tenascin R	1148	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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.L1148V(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)					ACCCCACTCAAAGTGTCTCCA	0.502																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3442-3444)TTG>GTG		tenascin R precursor							58.0	54.0	55.0					1																	175306756		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175306756A>C	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.3442T>G	1.37:g.175306756A>C	ENSP00000356646:p.Leu1148Val					TNR_uc009wwu.1_Missense_Mutation_p.L1148V	p.L1148V	NM_003285	NP_003276	Q92752	TENR_HUMAN			17	3523	-	Renal(580;0.146)		1148			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3442T>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010018	0.35415	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.76448	-1.02;-1.02	5.37	2.37	0.29283	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000002	T	0.74928	0.3781	N	0.25031	0.7	0.46823	D	0.999213	D	0.63046	0.992	D	0.63488	0.915	T	0.68845	-0.5301	10	0.30078	T	0.28	.	9.0411	0.36319	0.3044:0.0:0.6956:0.0	.	1148	Q92752	TENR_HUMAN	V	1148;1148;1058	ENSP00000356646:L1148V;ENSP00000263525:L1148V	ENSP00000263525:L1148V	L	-	1	2	TNR	173573379	0.992000	0.36948	0.929000	0.37066	0.983000	0.72400	2.088000	0.41663	0.246000	0.21394	-0.177000	0.13119	TTG		PASS	0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		13	28	13	28	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177249554	177249554	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:177249554G>T	ENST00000361539.4	+	8	1554	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	414					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.L414F(1)									CAAGGTCCTTGTCCTACTGGT	0.522																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1240-1242)TTG>TTT		family with sequence similarity 5, member B							81.0	77.0	79.0					1																	177249554		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249554G>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1242G>T	1.37:g.177249554G>T	ENSP00000354481:p.Leu414Phe					FAM5B_uc001glg.2_Missense_Mutation_p.L309F	p.L414F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1554	+			414					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1242G>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	7.324	0.617599	0.14129	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15372	2.43	5.41	3.27	0.37495	.	0.358888	0.23898	N	0.043474	T	0.13114	0.0318	L	0.29908	0.895	0.46203	D	0.998921	P;B	0.43519	0.809;0.435	P;B	0.45232	0.474;0.102	T	0.01178	-1.1427	10	0.41790	T	0.15	-5.406	5.2069	0.15295	0.1596:0.0:0.5573:0.2831	.	309;414	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	F	167;414	ENSP00000354481:L414F	ENSP00000354481:L414F	L	+	3	2	FAM5B	175516177	0.001000	0.12720	0.999000	0.59377	0.787000	0.44495	0.187000	0.16998	2.533000	0.85409	0.313000	0.20887	TTG		PASS	0.522	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	31	5	31	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183617058	183617058	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:183617058G>T	ENST00000308641.4	-	2	1130	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	287					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.L287I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GGAGCCCTGAGGTCTGGAGGT	0.483																																						uc001gqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)CTC>ATC		apolipoprotein B							97.0	98.0	98.0					1																	183617058		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617058G>T	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.859C>A	1.37:g.183617058G>T	ENSP00000310622:p.Leu287Ile					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	p.L287I	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN			2	1131	-			287					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.859C>A	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	3.109	-0.183109	0.06340	.	.	ENSG00000173627	ENST00000308641	T	0.11930	2.73	5.15	0.0317	0.14172	.	1.274630	0.05666	N	0.587762	T	0.11452	0.0279	L	0.51422	1.61	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.39210	-0.9625	10	0.19147	T	0.46	-18.6243	1.9978	0.03460	0.3006:0.1247:0.4466:0.128	.	287	Q8WW27	ABEC4_HUMAN	I	287	ENSP00000310622:L287I	ENSP00000310622:L287I	L	-	1	0	APOBEC4	181883681	0.261000	0.24063	0.333000	0.25482	0.681000	0.39784	1.030000	0.30153	-0.030000	0.13804	-0.121000	0.15023	CTC		PASS	0.483	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		5	52	5	52	---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203192298	203192298	+	Silent	SNP	A	A	G	rs555993709		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:203192298A>G	ENST00000367229.1	-	6	604	c.570T>C	c.(568-570)taT>taC	p.Y190Y	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Silent_p.Y181Y|CHIT1_ENST00000255427.3_Silent_p.Y171Y	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	190					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.Y190Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGCATCCACATAGGTCTGCC	0.582																																						uc001gzn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)TAT>TAC		chitotriosidase precursor							147.0	137.0	140.0					1																	203192298		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192298A>G	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.570T>C	1.37:g.203192298A>G						FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.Y181Y	p.Y190Y	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			6	666	-			190					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.570T>C	CCDS1436.1																																																																																				PASS	0.582	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		44	92	44	92	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203809458	203809458	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:203809458A>T	ENST00000545588.1	+	11	4825	c.998A>T	c.(997-999)gAg>gTg	p.E333V	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.E333V|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.E333V|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.E333V|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.E333V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	333					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E333V(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCTTAAGGAGCGATTAGGC	0.363																																						uc001hac.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(997-999)GAG>GTG		zinc finger CCCH-type containing 11A							116.0	117.0	117.0					1																	203809458		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203809458A>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.998A>T	1.37:g.203809458A>T	ENSP00000438527:p.Glu333Val					ZC3H11A_uc001had.2_Missense_Mutation_p.E333V|ZC3H11A_uc001hae.2_Missense_Mutation_p.E333V|ZC3H11A_uc001haf.2_Missense_Mutation_p.E333V|ZC3H11A_uc010pqm.1_Missense_Mutation_p.E279V|ZC3H11A_uc001hag.1_Missense_Mutation_p.E333V	p.E333V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	1614	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		333					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.998A>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383376	0.82792	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.35	5.35	0.76521	.	0.064498	0.64402	D	0.000007	T	0.69088	0.3072	M	0.64997	1.995	0.46701	D	0.99916	D	0.89917	1.0	D	0.91635	0.999	T	0.69529	-0.5121	10	0.45353	T	0.12	-14.7879	14.5914	0.68368	1.0:0.0:0.0:0.0	.	333	O75152	ZC11A_HUMAN	V	333;333;279;333;333;333;333	ENSP00000356183:E333V;ENSP00000356181:E333V;ENSP00000333253:E333V;ENSP00000438527:E333V;ENSP00000356179:E333V	ENSP00000333253:E333V	E	+	2	0	ZC3H11A	202076081	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.312000	0.59154	2.146000	0.66826	0.528000	0.53228	GAG		PASS	0.363	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		30	96	30	96	---	---	---	---
PSEN2	5664	broad.mit.edu	37	1	227071548	227071548	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:227071548T>C	ENST00000366783.3	+	5	720	c.284T>C	c.(283-285)gTc>gCc	p.V95A	PSEN2_ENST00000391872.2_Missense_Mutation_p.V128A|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000366782.1_Missense_Mutation_p.V128A|PSEN2_ENST00000422240.2_Missense_Mutation_p.V95A|PSEN2_ENST00000340188.4_Missense_Mutation_p.V95A	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	95					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.V95A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TTTGTGCCTGTCACTCTGTGC	0.592																																						uc009xeo.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(283-285)GTC>GCC		presenilin 2 isoform 1							128.0	113.0	118.0					1																	227071548		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.chr1:227071548T>C	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.284T>C	1.37:g.227071548T>C	ENSP00000355747:p.Val95Ala					PSEN2_uc009xep.1_Missense_Mutation_p.V95A|PSEN2_uc001hqk.2_RNA	p.V95A	NM_000447	NP_000438	P49810	PSN2_HUMAN			5	711	+		Prostate(94;0.0771)	95			Helical; (Potential).		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.284T>C	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749782	0.89753	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000495488;ENST00000422240;ENST00000366782;ENST00000391872	D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96317	0.9233	10	0.87932	D	0	.	15.5895	0.76517	0.0:0.0:0.0:1.0	.	95;95	A8K8D4;P49810	.;PSN2_HUMAN	A	95;95;95;95;128;128	ENSP00000355747:V95A;ENSP00000339860:V95A;ENSP00000429682:V95A;ENSP00000403737:V95A;ENSP00000355746:V128A;ENSP00000375745:V128A	ENSP00000339860:V95A	V	+	2	0	PSEN2	225138171	1.000000	0.71417	0.726000	0.30738	0.808000	0.45660	7.977000	0.88081	2.085000	0.62840	0.528000	0.53228	GTC		PASS	0.592	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		14	114	14	114	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227203781	227203781	+	Splice_Site	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:227203781C>A	ENST00000366769.3	-	33	6043	c.4752G>T	c.(4750-4752)atG>atT	p.M1584I	CDC42BPA_ENST00000366767.3_Splice_Site_p.M1503I|CDC42BPA_ENST00000366766.2_Splice_Site_p.M1619I|CDC42BPA_ENST00000535525.1_Splice_Site_p.M1564I|CDC42BPA_ENST00000334218.5_Splice_Site_p.M1584I|CDC42BPA_ENST00000366765.3_Splice_Site_p.M1597I|CDC42BPA_ENST00000366764.2_Splice_Site_p.M1556I	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.M1619I(1)|p.M1584I(1)|p.M1503I(1)		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)				TTCCTCTTACCATGGGCAGAT	0.378																																						uc001hqr.2																			3	Substitution - Missense(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(4750-4752)ATG>ATT		CDC42-binding protein kinase alpha isoform B							140.0	148.0	146.0					1																	227203781		2203	4300	6503	SO:0001630	splice_region_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.chr1:227203781C>A	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.4752+1G>T	1.37:g.227203781C>A						CDC42BPA_uc001hqq.2_Missense_Mutation_p.M883I|CDC42BPA_uc001hqs.2_Missense_Mutation_p.M1503I|CDC42BPA_uc009xes.2_Missense_Mutation_p.M1556I|CDC42BPA_uc010pvs.1_Missense_Mutation_p.M1564I|CDC42BPA_uc001hqp.2_Missense_Mutation_p.M740I|CDC42BPA_uc001hqt.2_Missense_Mutation_p.M462I	p.M1584I	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			33	5695	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1597						Missense_Mutation	SNP	ENST00000366769.3	37	c.4752G>T	CCDS1558.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.5|28.5|28.5	4.922044|4.922044|4.922044	0.92319|0.92319|0.92319	.|.|.	.|.|.	ENSG00000143776|ENSG00000143776|ENSG00000143776	ENST00000448940|ENST00000442054;ENST00000429440|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	.|.|T;T;T;T;T;T;T	.|.|0.65364	.|.|-0.11;-0.1;-0.11;-0.1;-0.15;-0.12;-0.1	6.08|6.08|6.08	6.08|6.08|6.08	0.98989|0.98989|0.98989	.|.|.	.|.|0.034960	.|.|0.85682	.|.|D	.|.|0.000000	T|.|T	0.74253|.|0.74253	0.3692|.|0.3692	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;P;B;P;P;B;D	.|.|0.55172	.|.|0.97;0.488;0.288;0.868;0.575;0.371;0.959	.|.|D;B;B;P;B;B;D	.|.|0.68943	.|.|0.961;0.276;0.085;0.561;0.217;0.146;0.956	T|.|T	0.68614|.|0.68614	-0.5362|.|-0.5362	5|.|9	.|.|.	.|.|.	.|.|.	.|.|.	20.6721|20.6721|20.6721	0.99693|0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|1564;1556;481;1503;1584;1619;786	.|.|F5H5N0;Q5VT25-4;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.|.;.;.;.;.;.;.	S|X|I	787|913;482|1584;1503;1584;1619;1556;1564;1597	.|.|ENSP00000355731:M1584I;ENSP00000355729:M1503I;ENSP00000335341:M1584I;ENSP00000355728:M1619I;ENSP00000355726:M1556I;ENSP00000443275:M1564I;ENSP00000355727:M1597I	.|.|.	A|E|M	-|-|-	1|1|3	0|0|0	CDC42BPA|CDC42BPA|CDC42BPA	225270404|225270404|225270404	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.894000|2.894000|2.894000	0.99253|0.99253|0.99253	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCC|GAA|ATG		PASS	0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	Missense_Mutation	5	38	5	38	---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231344869	231344869	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:231344869C>A	ENST00000366653.5	+	8	1996	c.1996C>A	c.(1996-1998)Ccc>Acc	p.P666T	TRIM67_ENST00000366652.2_Missense_Mutation_p.P666T|TRIM67_ENST00000444294.3_Missense_Mutation_p.P664T|TRIM67_ENST00000449018.3_Missense_Mutation_p.P604T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	666	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.P666T(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCACCCAGACCCCGCCTTCGG	0.632																																						uc009xfn.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|kidney(1)	4						c.(1996-1998)CCC>ACC		tripartite motif-containing 67							83.0	93.0	90.0					1																	231344869		2181	4292	6473	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231344869C>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1996C>A	1.37:g.231344869C>A	ENSP00000355613:p.Pro666Thr						p.P666T	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			8	2038	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	666			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1996C>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110671	0.94292	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.84929	0.5581	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84982	0.0889	10	0.49607	T	0.09	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	666	Q6ZTA4	TRI67_HUMAN	T	664;666;604;666	ENSP00000412124:P664T;ENSP00000355612:P666T;ENSP00000400163:P604T;ENSP00000355613:P666T	ENSP00000355612:P666T	P	+	1	0	TRIM67	229411492	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	7.734000	0.84928	2.854000	0.98071	0.655000	0.94253	CCC		PASS	0.632	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		6	54	6	54	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237756920	237756920	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:237756920G>C	ENST00000366574.2	+	33	4737	c.4420G>C	c.(4420-4422)Gga>Cga	p.G1474R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1472R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1458R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1474	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1472R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATGAAAAAGGAAAAGTGCA	0.383																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4420-4422)GGA>CGA		cardiac muscle ryanodine receptor							70.0	64.0	66.0					1																	237756920		1865	4103	5968	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237756920G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4420G>C	1.37:g.237756920G>C	ENSP00000355533:p.Gly1474Arg						p.G1474R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4540	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1474			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4420G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575363	0.86645	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.63417	-0.04;-0.04;-0.04	4.9	4.9	0.64082	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000009	T	0.66197	0.2765	M	0.76838	2.35	0.80722	D	1	B	0.25007	0.116	B	0.22601	0.04	T	0.68996	-0.5262	10	0.87932	D	0	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	1474	Q92736	RYR2_HUMAN	R	1474;1472;1458	ENSP00000355533:G1474R;ENSP00000353174:G1472R;ENSP00000443798:G1458R	ENSP00000353174:G1472R	G	+	1	0	RYR2	235823543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.652000	0.98499	2.517000	0.84864	0.650000	0.86243	GGA		PASS	0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	43	4	43	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238050715	238050715	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:238050715G>T	ENST00000366570.4	-	5	858	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	234	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.L234M(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AACTGGAACAGAACAAAAGCT	0.517																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(700-702)CTG>ATG		zona pellucida glycoprotein 4 preproprotein							168.0	159.0	162.0					1																	238050715		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050715G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.700C>A	1.37:g.238050715G>T	ENSP00000355529:p.Leu234Met					LOC100130331_uc010pyc.1_Intron	p.L234M	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	700	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	234			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.700C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	7.880	0.729990	0.15507	.	.	ENSG00000116996	ENST00000366570	D	0.82893	-1.66	5.26	1.15	0.20763	Zona pellucida sperm-binding protein (3);	0.169199	0.40640	N	0.001053	D	0.84817	0.5556	M	0.74881	2.28	0.09310	N	1	P	0.40834	0.73	P	0.53518	0.728	T	0.74087	-0.3778	10	0.36615	T	0.2	-8.5976	4.8413	0.13492	0.2513:0.0:0.5988:0.1499	.	234	Q12836	ZP4_HUMAN	M	234	ENSP00000355529:L234M	ENSP00000355529:L234M	L	-	1	2	ZP4	236117338	0.467000	0.25831	0.001000	0.08648	0.016000	0.09150	0.685000	0.25378	-0.044000	0.13491	0.655000	0.94253	CTG		PASS	0.517	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			18	104	18	104	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247040362	247040362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:247040362G>A	ENST00000391829.2	-	23	2950	c.2827C>T	c.(2827-2829)Cag>Tag	p.Q943*	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.Q978*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.Q952*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	943	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q943*(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCACTGGACTGCAAAAATTTC	0.368																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(2)	7						c.(2827-2829)CAG>TAG		transcription factor ELYS							72.0	68.0	69.0					1																	247040362		2203	4300	6503	SO:0001587	stop_gained	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247040362G>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2827C>T	1.37:g.247040362G>A	ENSP00000375705:p.Gln943*					AHCTF1_uc001ibv.1_Nonsense_Mutation_p.Q952*|AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_RNA	p.Q943*	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		22	2834	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	943			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	ENST00000391829.2	37	c.2827C>T		.	.	.	.	.	.	.	.	.	.	G	45	11.352713	0.99550	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-9.6388	19.8304	0.96632	0.0:0.0:1.0:0.0	.	.	.	.	X	978;952;943	.	ENSP00000355465:Q952X	Q	-	1	0	AHCTF1	245106985	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.929000	0.75852	2.775000	0.95449	0.585000	0.79938	CAG		PASS	0.368	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		6	23	6	23	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875683	247875683	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:247875683G>A	ENST00000302084.2	-	1	422	c.375C>T	c.(373-375)gcC>gcT	p.A125A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATAGCAGATGGCAAGACAGC	0.517																																						uc001idj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)GCC>GCT		olfactory receptor, family 6, subfamily F,							79.0	76.0	77.0					1																	247875683		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875683G>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.375C>T	1.37:g.247875683G>A							p.A125A	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	375	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		125			Cytoplasmic (Potential).		B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.375C>T	CCDS31095.1																																																																																				PASS	0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		6	30	6	30	---	---	---	---
EHD3	30845	broad.mit.edu	37	2	31483532	31483532	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:31483532A>C	ENST00000322054.5	+	4	944	c.659A>C	c.(658-660)aAa>aCa	p.K220T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	220	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.K220T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GTGCTGAACAAAGCTGACCAG	0.552																																						uc002rnu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(658-660)AAA>ACA		EH-domain containing 3							101.0	90.0	94.0					2																	31483532		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483532A>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.659A>C	2.37:g.31483532A>C	ENSP00000327116:p.Lys220Thr					EHD3_uc010ymt.1_Intron	p.K220T	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			4	1267	+	Acute lymphoblastic leukemia(172;0.155)		220			Potential.	ATP (By similarity).	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.659A>C	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088401	0.76756	.	.	ENSG00000013016	ENST00000322054	D	0.99226	-5.59	5.15	5.15	0.70609	Dynamin, GTPase domain (1);	0.042832	0.85682	D	0.000000	D	0.99387	0.9784	M	0.93854	3.465	0.80722	D	1	D	0.54207	0.965	P	0.54924	0.764	D	0.98576	1.0648	10	0.87932	D	0	-31.5072	15.1385	0.72590	1.0:0.0:0.0:0.0	.	220	Q9NZN3	EHD3_HUMAN	T	220	ENSP00000327116:K220T	ENSP00000327116:K220T	K	+	2	0	EHD3	31337036	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	9.131000	0.94446	2.155000	0.67459	0.459000	0.35465	AAA		PASS	0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		3	45	3	45	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39240652	39240652	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:39240652T>A	ENST00000426016.1	-	14	2202	c.2116A>T	c.(2116-2118)Aga>Tga	p.R706*	SOS1_ENST00000395038.2_Nonsense_Mutation_p.R706*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R706*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	706	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R706*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TATGCATCTCTTTCAAAATCA	0.323									Noonan syndrome																													uc002rrk.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(2116-2118)AGA>TGA		son of sevenless homolog 1							126.0	128.0	127.0					2																	39240652		2203	4299	6502	SO:0001587	stop_gained	6654	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	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39240652T>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2116A>T	2.37:g.39240652T>A	ENSP00000387784:p.Arg706*					SOS1_uc002rrj.3_Nonsense_Mutation_p.R320*	p.R706*	NM_005633	NP_005624	Q07889	SOS1_HUMAN			13	2157	-		all_hematologic(82;0.21)	706			N-terminal Ras-GEF.		A8K2G3|B4DXG2	Nonsense_Mutation	SNP	ENST00000426016.1	37	c.2116A>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	38	6.961931	0.97967	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	.	.	.	5.92	3.42	0.39159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6667	0.56846	0.0:0.0:0.3997:0.6003	.	.	.	.	X	706;706;438;706;706	.	ENSP00000263879:R706X	R	-	1	2	SOS1	39094156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.405000	0.44548	0.422000	0.26005	0.528000	0.53228	AGA		PASS	0.323	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		8	40	8	40	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915114	48915114	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:48915114G>A	ENST00000294954.7	-	11	1843	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Silent_p.L546L|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Silent_p.L581L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	608			Missing (in LHR; Leydig cell hypoplasia type 1). {ECO:0000269|PubMed:9514160}.		activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.L608L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAAGAACCAGTAAAACTTTA	0.373																																						uc002rwu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1822-1824)CTG>TTG		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						81.0	86.0	84.0					2																	48915114		2203	4300	6503	SO:0001819	synonymous_variant	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915114G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1822C>T	2.37:g.48915114G>A						GTF2A1L_uc002rwt.2_Intron	p.L608L	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1892	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	608		Missing (in LHR; Leydig cell hypoplasia type 1).	Helical; Name=7; (Potential).		Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	c.1822C>T	CCDS1842.1																																																																																				PASS	0.373	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		11	64	11	64	---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64169644	64169644	+	Silent	SNP	G	G	A	rs373361920		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:64169644G>A	ENST00000272322.4	-	11	1507	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	VPS54_ENST00000354504.3_Silent_p.L298L|VPS54_ENST00000409558.4_Silent_p.L439L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	451					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.L451L(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AAATATCCTTGAGCAGATCAA	0.328																																						uc002scq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1351-1353)CTC>CTT		vacuolar protein sorting 54 isoform 1							29.0	29.0	29.0					2																	64169644		2203	4291	6494	SO:0001819	synonymous_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64169644G>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1353C>T	2.37:g.64169644G>A						VPS54_uc002scp.2_Silent_p.L439L|VPS54_uc010fct.2_Silent_p.L298L	p.L451L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN			11	1516	-			451					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	c.1353C>T	CCDS33208.1																																																																																				PASS	0.328	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		5	11	5	11	---	---	---	---
GCFC2	6936	broad.mit.edu	37	2	75923427	75923427	+	Silent	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:75923427A>G	ENST00000321027.3	-	5	865	c.732T>C	c.(730-732)gaT>gaC	p.D244D	GCFC2_ENST00000409857.3_Silent_p.D206D|RP11-342K6.3_ENST00000604464.1_RNA|GCFC2_ENST00000541687.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	244					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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.D244D(1)									CACAGGAAAGATCTATGTCTC	0.284																																						uc002sno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(730-732)GAT>GAC		hypothetical protein LOC6936							41.0	49.0	47.0					2																	75923427		2179	4273	6452	SO:0001819	synonymous_variant	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75923427A>G	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.732T>C	2.37:g.75923427A>G						C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Silent_p.D75D|C2orf3_uc010fft.2_Intron	p.D244D	NM_003203	NP_003194	P16383	GCF_HUMAN			5	862	-			244					A4UHQ8|O95032|Q53TY0|Q6P2F2	Silent	SNP	ENST00000321027.3	37	c.732T>C	CCDS1961.1																																																																																				PASS	0.284	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		20	21	20	21	---	---	---	---
IGKV1-5	28299	broad.mit.edu	37	2	89247008	89247008	+	RNA	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:89247008C>A	ENST00000496168.1	-	0	342							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACCAGGCCAACCAGCTACTAA	0.522																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							124.0	118.0	120.0					2																	89247008		1930	4122	6052			0							g.chr2:89247008C>A	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247008C>A						uc002stl.2_Intron								101		-									RNA	SNP	ENST00000496168.1	37	c.8051G>T																																																																																					PASS	0.522	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		44	151	44	151	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102499117	102499117	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:102499117G>A	ENST00000347699.4	+	25	3055	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	MAP4K4_ENST00000324219.4_Missense_Mutation_p.D1100N|MAP4K4_ENST00000456652.1_Missense_Mutation_p.D818N|MAP4K4_ENST00000302217.5_Missense_Mutation_p.D822N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.D938N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.D1059N|MAP4K4_ENST00000413150.2_Missense_Mutation_p.D934N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.D1052N	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1019	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D1100N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AACCGTAGGGGATTTGGAAGG	0.333																																						uc002tbg.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(3055-3057)GAT>AAT		mitogen-activated protein kinase kinase kinase							171.0	177.0	175.0					2																	102499117		1816	4078	5894	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102499117G>A	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3055G>A	2.37:g.102499117G>A	ENSP00000314363:p.Asp1019Asn					MAP4K4_uc002tbc.2_Missense_Mutation_p.D1100N|MAP4K4_uc002tbd.2_Missense_Mutation_p.D992N|MAP4K4_uc002tbe.2_Missense_Mutation_p.D938N|MAP4K4_uc002tbf.2_Missense_Mutation_p.D1053N|MAP4K4_uc010yvy.1_Missense_Mutation_p.D1015N|MAP4K4_uc002tbh.2_Missense_Mutation_p.D937N|MAP4K4_uc002tbi.2_Missense_Mutation_p.D822N|MAP4K4_uc010yvz.1_Missense_Mutation_p.D1059N|MAP4K4_uc002tbk.2_Missense_Mutation_p.D474N|MAP4K4_uc002tbl.2_Missense_Mutation_p.D205N	p.D1019N	NM_145687	NP_663720	O95819	M4K4_HUMAN			25	3110	+			1019			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.3055G>A	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.532156|5.532156	0.96446|0.96446	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|T	0.05447|0.04119	3.44;3.44;3.44;3.44;3.44;3.44;3.44;3.44;3.44|3.7	5.92|5.92	5.92|5.92	0.95590|0.95590	Citron-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.23330|0.23330	0.0564|0.0564	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;P;D;D;D|.	0.89917|.	0.994;0.972;1.0;1.0;0.965;0.996;0.954;0.965;1.0;1.0|.	D;P;D;D;P;D;P;P;D;D|.	0.85130|.	0.926;0.767;0.997;0.993;0.655;0.983;0.833;0.655;0.997;0.994|.	T|T	0.00054|0.00054	-1.2183|-1.2183	10|7	0.87932|0.87932	D|D	0|0	.|.	20.3081|20.3081	0.98638|0.98638	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1059;1015;818;822;937;1019;1052;938;991;1100|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	N|E	1052;1100;938;822;934;818;1019;950;1059|835	ENSP00000392830:D1052N;ENSP00000313644:D1100N;ENSP00000281111:D938N;ENSP00000303600:D822N;ENSP00000389752:D934N;ENSP00000387370:D818N;ENSP00000314363:D1019N;ENSP00000409720:D950N;ENSP00000343658:D1059N|ENSP00000396066:G835E	ENSP00000303600:D822N|ENSP00000396066:G835E	D|G	+|+	1|2	0|0	MAP4K4|MAP4K4	101865549|101865549	1.000000|1.000000	0.71417|0.71417	0.331000|0.331000	0.25455|0.25455	0.994000|0.994000	0.84299|0.84299	9.790000|9.790000	0.99075|0.99075	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	GAT|GGA		PASS	0.333	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		44	73	44	73	---	---	---	---
GPR39	2863	broad.mit.edu	37	2	133402693	133402693	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:133402693G>A	ENST00000329321.3	+	2	1345	c.876G>A	c.(874-876)ttG>ttA	p.L292L	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	292					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.L292L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGTGACATTGGCCGTATGCT	0.512																																						uc002ttl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(874-876)TTG>TTA		G protein-coupled receptor 39							81.0	72.0	75.0					2																	133402693		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402693G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.876G>A	2.37:g.133402693G>A						LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	p.L292L	NM_001508	NP_001499	O43194	GPR39_HUMAN			2	1345	+			292			Helical; Name=6; (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.876G>A	CCDS2170.1																																																																																				PASS	0.512	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			12	36	12	36	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136575393	136575393	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:136575393T>G	ENST00000264162.2	-	6	1235	c.1225A>C	c.(1225-1227)Agc>Cgc	p.S409R	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	409	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S409R(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCCCAGATGCTCACCCCTCTC	0.627																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1225-1227)AGC>CGC		lactase-phlorizin hydrolase preproprotein							68.0	69.0	69.0					2																	136575393		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575393T>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1225A>C	2.37:g.136575393T>G	ENSP00000264162:p.Ser409Arg						p.S409R	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1236	-			409			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1225A>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	33	5.222616	0.95139	.	.	ENSG00000115850	ENST00000264162	T	0.39997	1.05	5.77	5.77	0.91146	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.097978	0.64402	D	0.000001	T	0.73426	0.3585	H	0.97158	3.95	0.46396	D	0.999029	D	0.56968	0.978	P	0.58577	0.841	T	0.83322	-0.0017	10	0.72032	D	0.01	-26.8842	16.3948	0.83586	0.0:0.0:0.0:1.0	.	409	P09848	LPH_HUMAN	R	409	ENSP00000264162:S409R	ENSP00000264162:S409R	S	-	1	0	LCT	136291863	1.000000	0.71417	0.698000	0.30274	0.020000	0.10135	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	AGC		PASS	0.627	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		17	34	17	34	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141055532	141055532	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:141055532G>T	ENST00000389484.3	-	84	13783	c.12812C>A	c.(12811-12813)cCc>cAc	p.P4271H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4271	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.P4271H(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)		GCTGCAGGTGGGTCTCCCTAT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(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.(12811-12813)CCC>CAC		low density lipoprotein-related protein 1B							90.0	95.0	93.0					2																	141055532		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141055532G>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.12812C>A	2.37:g.141055532G>T	ENSP00000374135:p.Pro4271His	TSP Lung(27;0.18)					p.P4271H	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)	84	13784	-		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)	4271			Extracellular (Potential).|EGF-like 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12812C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.440110|4.440110	0.83993|0.83993	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|D;T	0.92397|0.92752	-3.03|-3.1;2.64	6.08|6.08	6.08|6.08	0.98989|0.98989	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.92126|0.92126	0.7504|0.7504	L|L	0.28115|0.28115	0.83|0.83	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91912|0.91912	0.5540|0.5540	10|8	0.42905|0.59425	T|D	0.14|0.04	.|.	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4271|.	Q9NZR2|.	LRP1B_HUMAN|.	H|T	4271;4209|503;3	ENSP00000374135:P4271H|ENSP00000415052:P503T;ENSP00000393859:P3T	ENSP00000374135:P4271H|ENSP00000415052:P503T	P|P	-|-	2|1	0|0	LRP1B|LRP1B	140772002|140772002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.611000|0.611000	0.37282|0.37282	9.824000|9.824000	0.99380|0.99380	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCC|CCA		PASS	0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	60	12	60	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157348	145157348	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:145157348T>A	ENST00000558170.2	-	8	2590	c.1406A>T	c.(1405-1407)aAt>aTt	p.N469I	ZEB2_ENST00000409487.3_Missense_Mutation_p.N469I|ZEB2_ENST00000539609.3_Missense_Mutation_p.N445I|ZEB2_ENST00000303660.4_Missense_Mutation_p.N469I	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	469	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.N469I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAAACAGTATTGTCCACAAT	0.418																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1405-1407)AAT>ATT		zinc finger homeobox 1b							96.0	98.0	97.0					2																	145157348		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157348T>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1406A>T	2.37:g.145157348T>A	ENSP00000454157:p.Asn469Ile					ZEB2_uc002tvv.2_Missense_Mutation_p.N463I|ZEB2_uc010zbm.1_Missense_Mutation_p.N440I|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N498I	p.N469I	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1886	-			469			SMAD-MH2 binding domain (By similarity).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1406A>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111567	0.56398	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88055	0.6334	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.87578	0.983;0.991;0.991;0.998	D	0.89316	0.3636	10	0.87932	D	0	-13.5326	15.6615	0.77190	0.0:0.0:0.0:1.0	.	445;334;468;469	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	I	445;469;469;469	ENSP00000443792:N445I;ENSP00000302501:N469I;ENSP00000386854:N469I;ENSP00000395496:N469I	ENSP00000302501:N469I	N	-	2	0	ZEB2	144873818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.091000	0.63221	0.533000	0.62120	AAT		PASS	0.418	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		27	36	27	36	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166895999	166895999	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:166895999C>A	ENST00000303395.4	-	14	2522	c.2523G>T	c.(2521-2523)acG>acT	p.T841T	SCN1A_ENST00000423058.2_Silent_p.T841T|SCN1A_ENST00000409050.1_Silent_p.T813T|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.T830T|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	841					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.T841T(1)|p.T830T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGGCTAAGCGTCACAATAA	0.363																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(2488-2490)ACG>ACT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						77.0	76.0	76.0					2																	166895999		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166895999C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2523G>T	2.37:g.166895999C>A						SCN1A_uc002udo.3_Silent_p.T710T|SCN1A_uc010fpk.2_Silent_p.T682T	p.T830T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			14	2508	-			841			II.|Helical; Name=S3 of repeat II; (By similarity).		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.2490G>T	CCDS54413.1																																																																																				PASS	0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		20	36	20	36	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170042418	170042418	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:170042418T>C	ENST00000263816.3	-	50	9725	c.9440A>G	c.(9439-9441)aAg>aGg	p.K3147R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3147	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.K3147R(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)"""	ACAAGTCCGCTTGTCAGACAT	0.463																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9439-9441)AAG>AGG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						110.0	108.0	108.0					2																	170042418		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042418T>C		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.9440A>G	2.37:g.170042418T>C	ENSP00000263816:p.Lys3147Arg						p.K3147R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9653	-			3147			EGF-like 11.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9440A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758838	0.69763	.	.	ENSG00000081479	ENST00000263816	D	0.94687	-3.49	5.88	4.73	0.59995	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.486615	0.24666	N	0.036599	D	0.92681	0.7674	N	0.24115	0.695	0.80722	D	1	D	0.59767	0.986	P	0.54815	0.761	D	0.92422	0.5946	10	0.62326	D	0.03	.	11.6418	0.51237	0.0:0.0689:0.0:0.9311	.	3147	P98164	LRP2_HUMAN	R	3147	ENSP00000263816:K3147R	ENSP00000263816:K3147R	K	-	2	0	LRP2	169750664	0.996000	0.38824	0.945000	0.38365	0.997000	0.91878	3.060000	0.49955	1.059000	0.40554	0.533000	0.62120	AAG		PASS	0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		26	55	26	55	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179406245	179406245	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:179406245C>G	ENST00000591111.1	-	300	92860	c.92636G>C	c.(92635-92637)tGg>tCg	p.W30879S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W23580S|TTN_ENST00000342992.6_Missense_Mutation_p.W29952S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W23455S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W32520S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W23647S|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000415561.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30879	Fibronectin type-III 125. {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.W29952S(1)|p.W23647S(1)|p.W23455S(1)|p.W29950S(1)|p.W23580S(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)			TGGTGGGTACCAAGTAAGTGT	0.473																																						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.(89854-89856)TGG>TCG		titin isoform N2-A							101.0	94.0	96.0					2																	179406245		1949	4139	6088	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179406245C>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.92636G>C	2.37:g.179406245C>G	ENSP00000465570:p.Trp30879Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W23647S|TTN_uc010zfi.1_Missense_Mutation_p.W23580S|TTN_uc010zfj.1_Missense_Mutation_p.W23455S	p.W29952S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		299	90079	-			30879					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.89855G>C		.	.	.	.	.	.	.	.	.	.	C	23.8	4.460726	0.84317	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95790	0.8630	H	0.97918	4.105	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	0.97198	0.9862	9	0.87932	D	0	.	19.5319	0.95232	0.0:1.0:0.0:0.0	.	23455;23580;23647;30879	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	29952;23455;23647;23580;23452	ENSP00000343764:W29952S;ENSP00000434586:W23455S;ENSP00000340554:W23647S;ENSP00000352154:W23580S	ENSP00000340554:W23647S	W	-	2	0	TTN	179114491	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.814000	0.86154	2.616000	0.88540	0.561000	0.74099	TGG		PASS	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	28	7	28	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179479401	179479401	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:179479401G>T	ENST00000591111.1	-	211	44141	c.43917C>A	c.(43915-43917)gcC>gcA	p.A14639A	TTN_ENST00000359218.5_Silent_p.A7340A|TTN_ENST00000342992.6_Silent_p.A13712A|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.A7215A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000589042.1_Silent_p.A16280A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.A7407A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14639	Ig-like 96.				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.A13712A(2)|p.A7407A(1)|p.A7215A(1)|p.A7340A(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)			CGGTTACGGTGGCAGGAAGTT	0.413																																						uc010zfg.1																			5	Substitution - coding silent(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.(41134-41136)GCC>GCA		titin isoform N2-A							87.0	79.0	81.0					2																	179479401		1864	4103	5967	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179479401G>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.43917C>A	2.37:g.179479401G>T						uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.A7407A|TTN_uc010zfi.1_Silent_p.A7340A|TTN_uc010zfj.1_Silent_p.A7215A	p.A13712A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		210	41360	-			14639					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	Silent	SNP	ENST00000591111.1	37	c.41136C>A																																																																																					PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	23	10	23	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179544074	179544074	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:179544074G>A	ENST00000591111.1	-	140	33007	c.32783C>T	c.(32782-32784)cCa>cTa	p.P10928L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10001L|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P11245L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11699	Glu-rich.|Pro-rich.				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.P10001L(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)			ACCTTTTGCTGGCGGAGGCTT	0.408																																						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.(30001-30003)CCA>CTA		titin isoform N2-A							104.0	100.0	101.0					2																	179544074		1869	4102	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544074G>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.32783C>T	2.37:g.179544074G>A	ENSP00000465570:p.Pro10928Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6662L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.P10001L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		139	30226	-			10928					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.30002C>T		.	.	.	.	.	.	.	.	.	.	G	11.17	1.561244	0.27915	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.93	5.93	0.95920	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.82829	0.5122	M	0.87269	2.87	0.80722	D	1	P	0.52577	0.954	P	0.57057	0.812	D	0.84920	0.0853	9	0.87932	D	0	.	19.9318	0.97122	0.0:0.0:1.0:0.0	.	10928	Q8WZ42	TITIN_HUMAN	L	10001	ENSP00000343764:P10001L	ENSP00000343764:P10001L	P	-	2	0	TTN	179252319	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	6.408000	0.73285	2.805000	0.96524	0.655000	0.94253	CCA		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	19	8	19	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179623783	179623783	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:179623783C>T	ENST00000591111.1	-	44	10455	c.10231G>A	c.(10231-10233)Gaa>Aaa	p.E3411K	TTN_ENST00000359218.5_Missense_Mutation_p.E3365K|TTN_ENST00000342992.6_Missense_Mutation_p.E3411K|TTN_ENST00000460472.2_Missense_Mutation_p.E3365K|TTN_ENST00000589042.1_Missense_Mutation_p.E3411K|TTN_ENST00000360870.5_Missense_Mutation_p.E3411K|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3365K|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13727	Ig-like 20.				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.E3411K(3)|p.E3365K(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)			TAAGTTCCTTCATCTTCTGGA	0.408																																						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.(10231-10233)GAA>AAA		titin isoform N2-A							142.0	127.0	132.0					2																	179623783		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623783C>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.10231G>A	2.37:g.179623783C>T	ENSP00000465570:p.Glu3411Lys					TTN_uc010zfh.1_Missense_Mutation_p.E3365K|TTN_uc010zfi.1_Missense_Mutation_p.E3365K|TTN_uc010zfj.1_Missense_Mutation_p.E3365K|TTN_uc002umz.1_Missense_Mutation_p.E72K|TTN_uc002unb.2_Missense_Mutation_p.E3411K	p.E3411K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10455	-			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.10231G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.100077	0.76983	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84000	0.5376	M	0.79693	2.465	0.45097	D	0.998112	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	D	0.84859	0.0818	9	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	3365;3365;3365;3411;3411	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	3411;3365;3365;3365;3365;3411;16	ENSP00000343764:E3411K;ENSP00000434586:E3365K;ENSP00000340554:E3365K;ENSP00000352154:E3365K;ENSP00000354117:E3411K	ENSP00000340554:E3365K	E	-	1	0	TTN	179332028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.007000	0.70731	2.804000	0.96469	0.655000	0.94253	GAA		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	42	15	42	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187712502	187712502	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:187712502G>C	ENST00000295131.2	-	2	225	c.186C>G	c.(184-186)caC>caG	p.H62Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	62					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H62Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGTTACAAACGTGAGGATTTC	0.343																																						uc002upu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(184-186)CAC>CAG		zinc finger, SWIM domain containing 2							71.0	74.0	73.0					2																	187712502		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187712502G>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.186C>G	2.37:g.187712502G>C	ENSP00000295131:p.His62Gln						p.H62Q	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		2	226	-			62			SWIM-type.		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.186C>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797011	0.50208	.	.	ENSG00000163012	ENST00000295131	T	0.20738	2.05	5.61	2.9	0.33743	Zinc finger, SWIM-type (2);	0.000000	0.53938	D	0.000049	T	0.30039	0.0752	L	0.40543	1.245	0.36248	D	0.853727	D	0.76494	0.999	D	0.69824	0.966	T	0.20907	-1.0261	10	0.38643	T	0.18	-15.174	6.9793	0.24694	0.7474:0.0:0.2526:0.0	.	62	Q8NEG5	ZSWM2_HUMAN	Q	62	ENSP00000295131:H62Q	ENSP00000295131:H62Q	H	-	3	2	ZSWIM2	187420747	0.907000	0.30839	0.997000	0.53966	0.985000	0.73830	0.853000	0.27777	0.937000	0.37394	-0.600000	0.04104	CAC		PASS	0.343	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		22	31	22	31	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210558495	210558495	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:210558495A>C	ENST00000360351.4	+	7	2107	c.1601A>C	c.(1600-1602)cAg>cCg	p.Q534P	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q530P|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	534					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.Q534P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCTCAATTCAGGAACTTTTT	0.388																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1600-1602)CAG>CCG		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						90.0	90.0	90.0					2																	210558495		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558495A>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1601A>C	2.37:g.210558495A>C	ENSP00000353508:p.Gln534Pro					MAP2_uc002vdc.1_Missense_Mutation_p.Q534P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q530P	p.Q534P	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1849	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	534					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1601A>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	0.998	-0.691742	0.03303	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.23950	1.88;1.88	6.16	5.02	0.67125	MAP2/Tau projection (1);	0.325230	0.26773	N	0.022579	T	0.16428	0.0395	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.08576	-1.0715	10	0.41790	T	0.15	-8.4338	3.7186	0.08448	0.5734:0.2387:0.0684:0.1196	.	530;534	P11137-3;P11137	.;MAP2_HUMAN	P	534;530	ENSP00000353508:Q534P;ENSP00000392164:Q530P	ENSP00000353508:Q534P	Q	+	2	0	MAP2	210266740	0.047000	0.20315	0.997000	0.53966	0.042000	0.13812	1.779000	0.38624	2.367000	0.80283	0.528000	0.53228	CAG		PASS	0.388	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		16	47	16	47	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1363343	1363343	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:1363343C>T	ENST00000446702.2	+	8	1398	c.771C>T	c.(769-771)ccC>ccT	p.P257P	CNTN6_ENST00000539053.1_Silent_p.P185P|CNTN6_ENST00000350110.2_Silent_p.P257P			Q9UQ52	CNTN6_HUMAN	contactin 6	257	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P257P(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCCAGTCCCCGATATTAGTT	0.418																																						uc003boz.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(769-771)CCC>CCT		contactin 6 precursor							110.0	117.0	114.0					3																	1363343		2203	4298	6501	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363343C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.771C>T	3.37:g.1363343C>T						CNTN6_uc011asj.1_Silent_p.P185P|CNTN6_uc003bpa.2_Silent_p.P257P	p.P257P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1038	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	257			Ig-like C2-type 3.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.771C>T	CCDS2557.1																																																																																				PASS	0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		17	11	17	11	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9027423	9027423	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:9027423C>A	ENST00000383836.3	-	22	3507	c.3080G>T	c.(3079-3081)cGc>cTc	p.R1027L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R1003L	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1027					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R1027L(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTGCTGCTGCGGCGCATGGC	0.721			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(3079-3081)CGC>CTC		SLIT-ROBO Rho GTPase activating protein 3							35.0	43.0	40.0					3																	9027423		2202	4297	6499	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9027423C>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.3080G>T	3.37:g.9027423C>A	ENSP00000373347:p.Arg1027Leu					SRGAP3_uc003brg.1_Missense_Mutation_p.R1003L	p.R1027L	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	22	3756	-			1027					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.3080G>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430541	0.83776	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.43294	0.95;1.35	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.58810	1.83	0.58432	D	0.999995	P;P	0.51933	0.949;0.915	P;B	0.44477	0.451;0.264	T	0.54437	-0.8294	10	0.66056	D	0.02	.	17.7884	0.88545	0.0:1.0:0.0:0.0	.	1003;1027	O43295-2;O43295	.;SRGP2_HUMAN	L	1027;1003	ENSP00000373347:R1027L;ENSP00000353587:R1003L	ENSP00000353587:R1003L	R	-	2	0	SRGAP3	9002423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.762000	0.85270	2.283000	0.76528	0.467000	0.42956	CGC		PASS	0.721	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			4	25	4	25	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12780076	12780076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:12780076C>A	ENST00000314124.7	-	6	723	c.367G>T	c.(367-369)Gag>Tag	p.E123*	TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435575.1_Nonsense_Mutation_p.E47*|TMEM40_ENST00000264728.8_Nonsense_Mutation_p.E123*|TMEM40_ENST00000431022.2_Nonsense_Mutation_p.E139*|TMEM40_ENST00000435218.2_Nonsense_Mutation_p.E93*	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	123						integral component of membrane (GO:0016021)		p.E123*(1)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						GGTACCACCTCTCCAGGAGCA	0.547																																						uc003bxg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(367-369)GAG>TAG		transmembrane protein 40							146.0	126.0	133.0					3																	12780076		2203	4300	6503	SO:0001587	stop_gained	55287					integral to membrane		g.chr3:12780076C>A	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.367G>T	3.37:g.12780076C>A	ENSP00000322837:p.Glu123*					TMEM40_uc003bxh.1_Nonsense_Mutation_p.E93*|TMEM40_uc003bxi.1_Nonsense_Mutation_p.E47*|TMEM40_uc011auv.1_Nonsense_Mutation_p.E139*	p.E123*	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN			6	494	-			123					C9JID5|Q8NAL4|Q9NUZ4	Nonsense_Mutation	SNP	ENST00000314124.7	37	c.367G>T	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465362	0.63513	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000264728;ENST00000431022	.	.	.	4.11	4.11	0.48088	.	0.304717	0.23515	N	0.047342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.8363	12.5767	0.56367	0.0:1.0:0.0:0.0	.	.	.	.	X	123;47;93;123;139	.	ENSP00000264728:E123X	E	-	1	0	TMEM40	12755076	0.999000	0.42202	0.532000	0.27989	0.259000	0.26198	3.590000	0.53979	2.255000	0.74692	0.561000	0.74099	GAG		PASS	0.547	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	135	7	135	---	---	---	---
GLB1	2720	broad.mit.edu	37	3	33109729	33109729	+	Silent	SNP	G	G	A	rs140353187		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:33109729G>A	ENST00000399402.3	-	4	491	c.360C>T	c.(358-360)tcC>tcT	p.S120S	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Silent_p.S198S|GLB1_ENST00000307363.5_Silent_p.S150S	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	150					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.S150S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TACCTGGGTCGGAGGAGCGGA	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16037	0.0		0.0	False		,,,				2504	0.0					uc003cfi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(448-450)TCC>TCT		galactosidase, beta 1 isoform a preproprotein		G	,,	3,3723		0,3,1860	87.0	87.0	87.0		450,360,	1.4	1.0	3	dbSNP_134	87	0,8186		0,0,4093	no	coding-synonymous,coding-synonymous,intron	GLB1	NM_000404.2,NM_001079811.1,NM_001135602.1	,,	0,3,5953	AA,AG,GG		0.0,0.0805,0.0252	,,	150/678,120/648,	33109729	3,11909	1863	4093	5956	SO:0001819	synonymous_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33109729G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.360C>T	3.37:g.33109729G>A						GLB1_uc003cfh.1_Silent_p.S120S|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Silent_p.S198S	p.S150S	NM_000404	NP_000395	P16278	BGAL_HUMAN			4	567	-		Melanoma(143;0.104)	150					B2R7H8|B7Z6B0|P16279	Silent	SNP	ENST00000399402.3	37	c.450C>T	CCDS43062.1																																																																																				PASS	0.483	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		18	75	18	75	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266094	41266094	+	Missense_Mutation	SNP	C	C	A	rs121913416|rs121913417		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:41266094C>A	ENST00000349496.5	+	3	371	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	CTNNB1_ENST00000396185.3_Missense_Mutation_p.L31M|CTNNB1_ENST00000405570.1_Missense_Mutation_p.L31M|CTNNB1_ENST00000453024.1_Missense_Mutation_p.L24M|CTNNB1_ENST00000396183.3_Missense_Mutation_p.L31M	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	31			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.L31L(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.L31W(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.H24_L31del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.L31M(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACAGTCTTACCTGGACTCTGG	0.478		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	147	Deletion - In frame(117)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(2)|Substitution - Missense(2)|Substitution - coding silent(2)|Complex - frameshift(1)	p.A5_A80del(63)|p.H24_S47del(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.L31L(4)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.W25_H36del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A5_Q72del(1)|p.S29_H36del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.E9_S47del(1)|p.A5_G80>(1)|p.A20_N141del(1)|p.M8_G50del(1)|p.M1_A87del(1)|p.L31W(1)|p.D11_Y142>H(1)|p.D6_A43del(1)|p.A5_D144>D(1)|p.A5_T42del(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.V22_G80>NNNNN(1)|p.H24_L31del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.D6_K133del(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.L31Q(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.S23_A39del(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A20_R151del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.A5_E54del(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.D6_I140del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.Q28_I140del(1)|p.D17_A126del(1)|p.M1_T42del(1)|p.A5_I35del(1)|p.S23_I140del(1)|p.L7_I140del(1)	liver(108)|large_intestine(20)|stomach(8)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|pancreas(2)|adrenal_gland(1)|lung(1)|bone(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(91-93)CTG>ATG		beta-catenin	Lithium(DB01356)						92.0	77.0	82.0					3																	41266094		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266094C>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.91C>A	3.37:g.41266094C>A	ENSP00000344456:p.Leu31Met					CTNNB1_uc003ckp.2_Missense_Mutation_p.L31M|CTNNB1_uc003ckq.2_Missense_Mutation_p.L31M|CTNNB1_uc003ckr.2_Missense_Mutation_p.L31M|CTNNB1_uc011azf.1_Missense_Mutation_p.L24M|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.L31M	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	247	+			31		Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.91C>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059536	0.19987	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.76	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	N	0.04705	-0.18	0.58432	D	0.999999	B	0.20887	0.049	B	0.22601	0.04	T	0.04737	-1.0930	10	0.16420	T	0.52	1.2927	12.5748	0.56357	0.0:0.8637:0.0:0.1363	.	31	P35222	CTNB1_HUMAN	M	24;31;31;31;31;24;31;31;31	ENSP00000400508:L24M;ENSP00000385604:L31M;ENSP00000412219:L31M;ENSP00000379486:L31M;ENSP00000344456:L31M;ENSP00000411226:L24M;ENSP00000379488:L31M;ENSP00000409302:L31M;ENSP00000401599:L31M	ENSP00000344456:L31M	L	+	1	2	CTNNB1	41241098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.268000	0.51585	0.760000	0.33108	0.655000	0.94253	CTG		PASS	0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		6	22	6	22	---	---	---	---
ZNF502	91392	broad.mit.edu	37	3	44763768	44763768	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:44763768G>T	ENST00000296091.4	+	4	1715	c.1459G>T	c.(1459-1461)Ggt>Tgt	p.G487C	ZNF502_ENST00000449836.1_Missense_Mutation_p.G487C|ZNF502_ENST00000436624.2_Missense_Mutation_p.G487C	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G487C(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AACTCACACTGGTGAGAAGCT	0.398																																						uc011baa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1459-1461)GGT>TGT		zinc finger protein 502							70.0	68.0	69.0					3																	44763768		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763768G>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1459G>T	3.37:g.44763768G>T	ENSP00000296091:p.Gly487Cys					ZNF502_uc003cns.2_Missense_Mutation_p.G487C|ZNF502_uc011bab.1_Missense_Mutation_p.G487C|ZNF502_uc003cnt.2_Missense_Mutation_p.G487C	p.G487C	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1714	+			487						Missense_Mutation	SNP	ENST00000296091.4	37	c.1459G>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349949	0.61183	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	T;T;T	0.26660	1.72;1.72;1.72	4.1	3.21	0.36854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53384	0.1793	M	0.87900	2.915	0.32876	D	0.509942	D	0.89917	1.0	D	0.80764	0.994	T	0.66720	-0.5852	9	0.87932	D	0	-8.91	11.4053	0.49894	0.0964:0.0:0.9036:0.0	.	487	Q8TBZ5	ZN502_HUMAN	C	487	ENSP00000397390:G487C;ENSP00000296091:G487C;ENSP00000406469:G487C	ENSP00000296091:G487C	G	+	1	0	ZNF502	44738772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.119000	0.50422	2.290000	0.77057	0.655000	0.94253	GGT		PASS	0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		5	37	5	37	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47030752	47030752	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:47030752G>T	ENST00000450053.3	+	5	533	c.354G>T	c.(352-354)ctG>ctT	p.L118L	NBEAL2_ENST00000292309.5_Silent_p.L118L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	118					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L118L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACCTACAGCTGAAAGGATGCC	0.622																																						uc003cqp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(352-354)CTG>CTT		neurobeachin-like 2							40.0	49.0	46.0					3																	47030752		2127	4211	6338	SO:0001819	synonymous_variant	23218						binding	g.chr3:47030752G>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.354G>T	3.37:g.47030752G>T						NBEAL2_uc003cqq.1_Silent_p.L111L	p.L118L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	5	533	+		Acute lymphoblastic leukemia(5;0.0534)	118					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.354G>T	CCDS46817.1																																																																																				PASS	0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		7	5	7	5	---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49044337	49044337	+	Silent	SNP	C	C	G	rs527458356		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:49044337C>G	ENST00000383729.4	+	9	1877	c.1506C>G	c.(1504-1506)ctC>ctG	p.L502L	WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000448293.1_5'Flank|P4HTM_ENST00000343546.4_Silent_p.L563L|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000415265.2_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	502						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.L502L(1)|p.L563L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GCGTGGAACTCTGAGGGAAGA	0.657																																						uc003cvg.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)|pancreas(1)	2						c.(1504-1506)CTC>CTG		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						12.0	13.0	12.0					3																	49044337		2193	4286	6479	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49044337C>G		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1506C>G	3.37:g.49044337C>G						P4HTM_uc003cvh.2_Silent_p.L563L|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.L502L	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			9	1855	+			502			Lumenal (Potential).		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.1506C>G	CCDS43089.1																																																																																				PASS	0.657	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	5	5	5	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49065169	49065169	+	IGR	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:49065169C>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.E169K	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)		p.E169K(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCATGTTCCTCCTCTTTGAGA	0.537																																						uc003cvt.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(505-507)GAG>AAG		inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						70.0	72.0	71.0					3																	49065169		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49065169C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065169C>T							p.E169K	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	597	-			169			CBS 1.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.505G>A	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.082|8.082	0.772507|0.772507	0.16051|0.16051	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157|ENST00000429182	T;T|.	0.78003|.	-1.14;0.94|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (1);IMP dehydrogenase/GMP reductase (1);|.	0.248309|.	0.45606|.	D|.	0.000353|.	T|T	0.34366|0.34366	0.0895|0.0895	N|N	0.02802|0.02802	-0.49|-0.49	0.45515|0.45515	D|D	0.99847|0.99847	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.32640|0.32640	-0.9899|-0.9899	10|5	0.13470|.	T|.	0.59|.	-38.1674|-38.1674	16.0399|16.0399	0.80667|0.80667	0.1422:0.8578:0.0:0.0|0.1422:0.8578:0.0:0.0	.|.	169|.	P12268|.	IMDH2_HUMAN|.	K|E	169;169;144|100	ENSP00000321584:E169K;ENSP00000403502:E144K|.	ENSP00000321584:E169K|.	E|G	-|-	1|2	0|0	IMPDH2|IMPDH2	49040173|49040173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	0.971000|0.971000	0.29396|0.29396	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.537	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		33	36	33	36	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51746554	51746554	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:51746554G>T	ENST00000395052.3	+	3	750	c.516G>T	c.(514-516)ctG>ctT	p.L172L	GRM2_ENST00000442933.2_Silent_p.L172L|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	172					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.L172L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGCCAAGCTGAGTGACAAGT	0.542																																						uc010hlv.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(514-516)CTG>CTT		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						166.0	146.0	153.0					3																	51746554		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746554G>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.516G>T	3.37:g.51746554G>T						GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.L172L	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	755	+			172			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.516G>T	CCDS2834.1																																																																																				PASS	0.542	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	65	5	65	---	---	---	---
IQCF2	389123	broad.mit.edu	37	3	51897351	51897351	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:51897351C>T	ENST00000333127.3	+	3	489	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	154								p.H154Y(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACAGCCACTCACCTGCAGTT	0.547																																						uc003dbt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)CAC>TAC		IQ motif containing F2							104.0	100.0	101.0					3																	51897351		2203	4300	6503	SO:0001583	missense	389123							g.chr3:51897351C>T	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.460C>T	3.37:g.51897351C>T	ENSP00000329904:p.His154Tyr					IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	p.H154Y	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	498	+			154						Missense_Mutation	SNP	ENST00000333127.3	37	c.460C>T	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797990	0.70567	.	.	ENSG00000184345	ENST00000333127	T	0.33216	1.42	5.22	4.29	0.51040	.	0.000000	0.56097	D	0.000021	T	0.43456	0.1248	L	0.46157	1.445	0.24110	N	0.995843	D	0.76494	0.999	D	0.64144	0.922	T	0.16512	-1.0400	10	0.72032	D	0.01	-33.0094	11.2443	0.48987	0.0:0.8157:0.1843:0.0	.	154	Q8IXL9	IQCF2_HUMAN	Y	154	ENSP00000329904:H154Y	ENSP00000329904:H154Y	H	+	1	0	IQCF2	51872391	0.979000	0.34478	1.000000	0.80357	0.991000	0.79684	1.823000	0.39062	2.866000	0.98385	0.650000	0.86243	CAC		PASS	0.547	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		55	59	55	59	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52813520	52813520	+	Missense_Mutation	SNP	G	G	C	rs35394357	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:52813520G>C	ENST00000273283.2	+	5	507	c.483G>C	c.(481-483)caG>caC	p.Q161H	ITIH1_ENST00000542827.1_Missense_Mutation_p.Q161H|ITIH1_ENST00000540715.1_Missense_Mutation_p.Q19H|ITIH1_ENST00000537050.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	161	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q161H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCACGTTTCAGCTGACTTATG	0.498																																						uc003dfs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(481-483)CAG>CAC		inter-alpha (globulin) inhibitor H1							149.0	136.0	140.0					3																	52813520		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52813520G>C		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.483G>C	3.37:g.52813520G>C	ENSP00000273283:p.Gln161His					ITIH1_uc010hmn.1_RNA	p.Q161H	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	5	507	+			161			VIT.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.483G>C	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393663	0.62066	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.22743	1.94;1.94;4.75	5.69	2.83	0.33086	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	1.036860	0.07525	N	0.911248	T	0.32346	0.0826	L	0.53249	1.67	0.80722	D	1	P	0.45531	0.86	P	0.54026	0.74	T	0.03483	-1.1032	10	0.49607	T	0.09	-0.521	5.1082	0.14794	0.2529:0.3657:0.3814:0.0	.	161	P19827	ITIH1_HUMAN	H	161;161;19	ENSP00000442584:Q161H;ENSP00000273283:Q161H;ENSP00000443973:Q19H	ENSP00000273283:Q161H	Q	+	3	2	ITIH1	52788560	0.000000	0.05858	0.589000	0.28718	0.891000	0.51852	-1.366000	0.02585	0.266000	0.21894	0.561000	0.74099	CAG		PASS	0.498	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		14	55	14	55	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53223900	53223900	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:53223900G>T	ENST00000394729.2	+	17	2083	c.1755G>T	c.(1753-1755)agG>agT	p.R585S	PRKCD_ENST00000330452.3_Missense_Mutation_p.R585S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	585	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R585S(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	TCTTTGAAAGGGAACCAACCA	0.547																																						uc003dgl.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1753-1755)AGG>AGT		protein kinase C, delta							135.0	134.0	134.0					3																	53223900		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53223900G>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1755G>T	3.37:g.53223900G>T	ENSP00000378217:p.Arg585Ser					PRKCD_uc003dgm.2_Missense_Mutation_p.R585S	p.R585S	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	18	2108	+		Ovarian(412;0.0728)	585			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1755G>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663772	0.47572	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.59224	0.28;0.28	5.27	2.54	0.30619	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	0.65811	0.2727	L	0.56124	1.755	0.80722	D	1	D	0.58620	0.983	P	0.62014	0.897	T	0.65500	-0.6153	10	0.87932	D	0	.	9.9921	0.41877	0.225:0.0:0.775:0.0	.	585	Q05655	KPCD_HUMAN	S	585	ENSP00000378217:R585S;ENSP00000331602:R585S	ENSP00000331602:R585S	R	+	3	2	PRKCD	53198940	0.981000	0.34729	0.992000	0.48379	0.460000	0.32559	0.166000	0.16583	0.382000	0.24878	-0.291000	0.09656	AGG		PASS	0.547	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			7	145	7	145	---	---	---	---
TKT	7086	broad.mit.edu	37	3	53275207	53275207	+	Nonsense_Mutation	SNP	C	C	A	rs373896575		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:53275207C>A	ENST00000462138.1	-	3	368	c.280G>T	c.(280-282)Gag>Tag	p.E94*	TKT_ENST00000423516.1_Nonsense_Mutation_p.E94*|TKT_ENST00000423525.2_Nonsense_Mutation_p.E94*|TKT_ENST00000296289.6_Nonsense_Mutation_p.E47*			P29401	TKT_HUMAN	transketolase	94					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.E94*(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		AGCTCCGCCTCGGCCAGGAAA	0.657																																					Colon(133;1506 2347 35238 42177)	uc003dgo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(280-282)GAG>TAG		transketolase isoform 1	Thiamine(DB00152)						57.0	51.0	53.0					3																	53275207		2203	4300	6503	SO:0001587	stop_gained	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53275207C>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.280G>T	3.37:g.53275207C>A	ENSP00000417773:p.Glu94*					TKT_uc011beo.1_Nonsense_Mutation_p.E47*|TKT_uc003dgq.2_Nonsense_Mutation_p.E94*|TKT_uc011beq.1_Nonsense_Mutation_p.E94*|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Intron	p.E94*	NM_001135055	NP_001128527	P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	3	390	-		Prostate(884;0.0959)	94					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Nonsense_Mutation	SNP	ENST00000462138.1	37	c.280G>T	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715166	0.68844	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289	.	.	.	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-9.0747	16.8629	0.86022	0.0:0.8715:0.1285:0.0	.	.	.	.	X	94;94;94;47	.	ENSP00000296289:E47X	E	-	1	0	TKT	53250247	1.000000	0.71417	0.700000	0.30305	0.214000	0.24535	5.728000	0.68531	1.437000	0.47472	0.655000	0.94253	GAG		PASS	0.657	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			5	39	5	39	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89462338	89462338	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:89462338G>T	ENST00000336596.2	+	10	2035	c.1810G>T	c.(1810-1812)Gac>Tac	p.D604Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D604Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	604					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.D604Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACATATGAAGACCCTACCCA	0.418										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - Missense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1810-1812)GAC>TAC		ephrin receptor EphA3 isoform a precursor							159.0	144.0	149.0					3																	89462338		2203	4299	6502	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89462338G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1810G>T	3.37:g.89462338G>T	ENSP00000337451:p.Asp604Tyr	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.D604Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	10	2035	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	604			Cytoplasmic (Potential).		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1810G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864538	0.91511	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.33865	1.39;1.39	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.79813	-0.1645	9	.	.	.	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	604	P29320	EPHA3_HUMAN	Y	604	ENSP00000337451:D604Y;ENSP00000419190:D604Y	.	D	+	1	0	EPHA3	89545028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.775000	0.98995	2.821000	0.97095	0.650000	0.86243	GAC		PASS	0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		6	17	6	17	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100373724	100373724	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:100373724C>T	ENST00000273352.3	+	12	1693	c.1425C>T	c.(1423-1425)tgC>tgT	p.C475C	GPR128_ENST00000475887.1_Silent_p.C180C|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	475					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C475C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAATCTGTGCATATCAATGT	0.318																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1423-1425)TGC>TGT		G protein-coupled receptor 128 precursor							100.0	95.0	97.0					3																	100373724		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373724C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1425C>T	3.37:g.100373724C>T						GPR128_uc011bhc.1_Silent_p.C176C|GPR128_uc003dud.2_5'UTR	p.C475C	NM_032787	NP_116176	Q96K78	GP128_HUMAN			12	1693	+			475			Helical; Name=2; (Potential).		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1425C>T	CCDS2938.1																																																																																				PASS	0.318	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			6	78	6	78	---	---	---	---
NXPE3	91775	broad.mit.edu	37	3	101540798	101540798	+	Nonstop_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:101540798G>T	ENST00000491511.2	+	8	2636	c.1680G>T	c.(1678-1680)taG>taT	p.*560Y	NXPE3_ENST00000273347.5_Nonstop_Mutation_p.*560Y|NXPE3_ENST00000477909.1_Nonstop_Mutation_p.*560Y|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000422132.1_Nonstop_Mutation_p.*560Y	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	0						extracellular region (GO:0005576)		p.*560Y(1)									TGGAAACCTAGCCTGTCTTGG	0.478																																						uc003dvn.2																			1	Nonstop extension(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1678-1680)TAG>TAT		hypothetical protein LOC91775 precursor							66.0	57.0	60.0					3																	101540798		2203	4300	6503	SO:0001578	stop_lost	91775					extracellular region		g.chr3:101540798G>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1680G>T	3.37:g.101540798G>T	ENSP00000417485:p.*560Tyrext*17					FAM55C_uc010hpn.2_Nonstop_Mutation_p.*560Y	p.*560Y	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			8	2317	+			560					A8K0X4|D3DN53|Q7Z2S8	Nonstop_Mutation	SNP	ENST00000491511.2	37	c.1680G>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019833	0.35606	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	.	.	.	6.03	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8061	0.34938	0.222:0.0:0.778:0.0	.	.	.	.	Y	560	.	.	X	+	3	2	FAM55C	103023488	0.963000	0.33076	0.956000	0.39512	0.610000	0.37248	1.563000	0.36364	1.552000	0.49463	0.655000	0.94253	TAG		PASS	0.478	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		26	67	26	67	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108163569	108163569	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:108163569G>A	ENST00000273353.3	-	23	2689	c.2633C>T	c.(2632-2634)tCa>tTa	p.S878L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	878						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S878L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGAAACTCTGATTTCTCCAA	0.433																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(2632-2634)TCA>TTA		myosin, heavy polypeptide 15							129.0	121.0	124.0					3																	108163569		1904	4135	6039	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108163569G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2633C>T	3.37:g.108163569G>A	ENSP00000273353:p.Ser878Leu						p.S878L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			23	2690	-			878			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2633C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813674	0.90790	.	.	ENSG00000144821	ENST00000273353	T	0.79940	-1.32	5.15	5.15	0.70609	.	.	.	.	.	T	0.81931	0.4927	L	0.46614	1.455	0.45035	D	0.998052	P	0.38148	0.62	P	0.45794	0.493	T	0.81568	-0.0873	9	0.45353	T	0.12	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	878	Q9Y2K3	MYH15_HUMAN	L	878	ENSP00000273353:S878L	ENSP00000273353:S878L	S	-	2	0	MYH15	109646259	1.000000	0.71417	0.961000	0.40146	0.808000	0.45660	6.273000	0.72581	2.550000	0.86006	0.650000	0.86243	TCA		PASS	0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		7	93	7	93	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111296348	111296348	+	Splice_Site	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:111296348G>T	ENST00000283285.5	+	4	674		c.e4-1		CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule						cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.?(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCTTCCTTAGGAAAACAGCA	0.423									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Unknown(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.e4-1		CD96 antigen isoform 1 precursor							197.0	204.0	201.0					3																	111296348		2203	4300	6503	SO:0001630	splice_region_variant	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111296348G>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.544-1G>T	3.37:g.111296348G>T						CD96_uc003dxv.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	p.E182_splice	NM_198196	NP_937839	P40200	TACT_HUMAN			4	714	+								Q5JPB3	Splice_Site	SNP	ENST00000283285.5	37	c.544_splice	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	4.756	0.140671	0.09083	.	.	ENSG00000153283	ENST00000283285	.	.	.	3.38	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9409	0.13965	0.3174:0.0:0.6826:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD96	112779038	0.002000	0.14202	0.002000	0.10522	0.017000	0.09413	0.167000	0.16602	0.387000	0.25024	0.638000	0.83543	.		PASS	0.423	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		Intron	9	203	9	203	---	---	---	---
PLCXD2	257068	broad.mit.edu	37	3	111427219	111427219	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:111427219G>A	ENST00000477665.1	+	2	934	c.610G>A	c.(610-612)Gag>Aag	p.E204K	PLCXD2_ENST00000393934.3_Missense_Mutation_p.E204K	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	204	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.E204K(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AACTCTGTGGGAGAAGAACTG	0.498																																						uc003dya.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(610-612)GAG>AAG		phosphatidylinositol-specific phospholipase C, X							53.0	52.0	52.0					3																	111427219		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111427219G>A	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.610G>A	3.37:g.111427219G>A	ENSP00000420686:p.Glu204Lys					PLCXD2_uc003dyb.2_Missense_Mutation_p.E204K|PLCXD2_uc003dxz.2_Missense_Mutation_p.E204K	p.E204K	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN			2	1196	+			204			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.610G>A	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749499	0.49257	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.73	3.9	0.45041	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.57770	0.2076	M	0.67953	2.075	0.58432	D	0.999996	B;B	0.27910	0.193;0.05	B;B	0.27715	0.082;0.049	T	0.52616	-0.8552	8	0.11794	T	0.64	-16.6374	14.4358	0.67279	0.0:0.3053:0.6947:0.0	.	204;204	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	K	204	.	ENSP00000377511:E204K	E	+	1	0	PLCXD2	112909909	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.418000	0.59828	0.839000	0.34971	0.655000	0.94253	GAG		PASS	0.498	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		13	86	13	86	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111603433	111603433	+	Missense_Mutation	SNP	G	G	C	rs546014587		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:111603433G>C	ENST00000431670.2	+	2	920	c.509G>C	c.(508-510)cGg>cCg	p.R170P	PHLDB2_ENST00000393925.3_Missense_Mutation_p.R170P|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R170P|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R197P|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R170P|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R170P|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R170P	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	170						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.R170P(2)|p.R197P(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGGAAGGTCGGAAGGCATCT	0.547																																						uc010hqa.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(508-510)CGG>CCG		pleckstrin homology-like domain, family B,							61.0	62.0	62.0					3																	111603433		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603433G>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.509G>C	3.37:g.111603433G>C	ENSP00000405405:p.Arg170Pro					PHLDB2_uc003dyc.2_Missense_Mutation_p.R197P|PHLDB2_uc003dyd.2_Missense_Mutation_p.R170P|PHLDB2_uc003dyg.2_Missense_Mutation_p.R170P|PHLDB2_uc003dyh.2_Missense_Mutation_p.R170P|PHLDB2_uc003dye.3_Missense_Mutation_p.R170P|PHLDB2_uc003dyf.3_Missense_Mutation_p.R170P	p.R170P	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	920	+			170					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.509G>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676707	0.47886	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.48201	0.82;0.89;0.84;0.86;0.89;0.84	5.61	3.78	0.43462	.	0.410390	0.24447	N	0.038447	T	0.51991	0.1707	L	0.34521	1.04	0.22226	N	0.999273	D;B;D;D;D	0.76494	0.975;0.184;0.999;0.969;0.969	P;B;D;P;P	0.64776	0.6;0.071;0.929;0.619;0.619	T	0.36962	-0.9726	10	0.51188	T	0.08	.	9.8402	0.40993	0.0793:0.1432:0.7775:0.0	.	170;170;170;170;197	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	P	197;197;170;170;170;170;170;170;170	ENSP00000377500:R197P;ENSP00000405405:R170P;ENSP00000405292:R170P;ENSP00000418296:R170P;ENSP00000377502:R170P;ENSP00000418319:R170P	ENSP00000352764:R197P	R	+	2	0	PHLDB2	113086123	0.001000	0.12720	0.288000	0.24862	0.743000	0.42351	0.560000	0.23500	1.500000	0.48636	0.655000	0.94253	CGG		PASS	0.547	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		21	121	21	121	---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119306567	119306567	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:119306567A>G	ENST00000478399.1	+	4	2321	c.916A>G	c.(916-918)Aca>Gca	p.T306A	ADPRH_ENST00000357003.3_Missense_Mutation_p.T306A|ADPRH_ENST00000478927.1_Missense_Mutation_p.T306A|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.T306A			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	306					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.T306A(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CAGTGATTCTACAGCTGCCAT	0.512																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(916-918)ACA>GCA		ADP-ribosylarginine hydrolase							67.0	67.0	67.0					3																	119306567		2203	4300	6503	SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119306567A>G	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.916A>G	3.37:g.119306567A>G	ENSP00000420200:p.Thr306Ala					ADPRH_uc010hqv.2_Missense_Mutation_p.T306A|ADPRH_uc011bjb.1_Missense_Mutation_p.T199A|ADPRH_uc003ect.2_Missense_Mutation_p.T306A	p.T306A	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	5	1214	+		Lung NSC(201;0.0977)	306					B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	c.916A>G	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256239	0.80246	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	M	0.91972	3.26	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.71119	-0.4685	10	0.54805	T	0.06	-21.6506	14.7581	0.69583	1.0:0.0:0.0:0.0	.	306	P54922	ADPRH_HUMAN	A	306	ENSP00000420200:T306A;ENSP00000417528:T306A;ENSP00000349496:T306A;ENSP00000417430:T306A	ENSP00000349496:T306A	T	+	1	0	ADPRH	120789257	1.000000	0.71417	0.932000	0.37286	0.852000	0.48524	8.079000	0.89508	2.367000	0.80283	0.528000	0.53228	ACA		PASS	0.512	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		38	30	38	30	---	---	---	---
ARGFX	503582	broad.mit.edu	37	3	121305099	121305099	+	Silent	SNP	C	C	A	rs554335256		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:121305099C>A	ENST00000334384.3	+	4	610	c.600C>A	c.(598-600)acC>acA	p.T200T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T200T(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AGAGTTCTACCAGTGACTTCC	0.463																																						uc003eef.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(598-600)ACC>ACA		arginine-fifty homeobox							147.0	145.0	146.0					3																	121305099		2203	4300	6503	SO:0001819	synonymous_variant	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121305099C>A		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.600C>A	3.37:g.121305099C>A							p.T200T	NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	5	695	+			200						Silent	SNP	ENST00000334384.3	37	c.600C>A	CCDS33834.1																																																																																				PASS	0.463	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		7	168	7	168	---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121341598	121341598	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:121341598G>T	ENST00000338040.4	+	3	1736	c.1322G>T	c.(1321-1323)gGg>gTg	p.G441V		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	441					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G441V(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTTTCCTCTGGGACAGTGCTG	0.532																																						uc003eeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1321-1323)GGG>GTG		F-box protein 40							80.0	82.0	82.0					3																	121341598		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341598G>T	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1322G>T	3.37:g.121341598G>T	ENSP00000337510:p.Gly441Val						p.G441V	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1532	+			441					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1322G>T	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	9.373	1.070953	0.20147	.	.	ENSG00000163833	ENST00000338040	T	0.47528	0.84	5.97	4.17	0.49024	.	0.278522	0.41712	D	0.000836	T	0.28732	0.0712	N	0.22421	0.69	0.21105	N	0.999786	P	0.35272	0.493	B	0.29785	0.107	T	0.12218	-1.0556	10	0.39692	T	0.17	-9.3704	7.7387	0.28829	0.2561:0.0:0.7439:0.0	.	441	Q9UH90	FBX40_HUMAN	V	441	ENSP00000337510:G441V	ENSP00000337510:G441V	G	+	2	0	FBXO40	122824288	0.894000	0.30519	0.685000	0.30070	0.951000	0.60555	2.743000	0.47442	0.843000	0.35070	0.655000	0.94253	GGG		PASS	0.532	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		7	98	7	98	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121414463	121414463	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:121414463C>A	ENST00000340645.5	-	13	5017	c.4892G>T	c.(4891-4893)aGg>aTg	p.R1631M	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R1636M	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1631					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R1631M(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATGCTGAATCCTTTCTGCTTC	0.413																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(4891-4893)AGG>ATG		golgi autoantigen, golgin subfamily b,							158.0	158.0	158.0					3																	121414463		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414463C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4892G>T	3.37:g.121414463C>A	ENSP00000341848:p.Arg1631Met					GOLGB1_uc010hrc.2_Missense_Mutation_p.R1636M|GOLGB1_uc003eej.3_Missense_Mutation_p.R1597M|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1517M|GOLGB1_uc010hrd.1_Missense_Mutation_p.R1595M	p.R1631M	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5018	-			1631			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4892G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658723	0.47467	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.28069	2.25;2.24;1.63	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000028	T	0.56543	0.1992	M	0.72894	2.215	0.51012	D	0.999902	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.983;0.998;0.983;0.999	T	0.56195	-0.8019	10	0.56958	D	0.05	.	17.2816	0.87130	0.0:1.0:0.0:0.0	.	1556;1595;1636;1636;1631	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	M	1631;1636;1595	ENSP00000341848:R1631M;ENSP00000377275:R1636M;ENSP00000418231:R1595M	ENSP00000341848:R1631M	R	-	2	0	GOLGB1	122897153	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.779000	0.68948	2.670000	0.90874	0.561000	0.74099	AGG		PASS	0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		8	143	8	143	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098900	133098900	+	Silent	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:133098900A>G	ENST00000321871.6	+	4	555	c.345A>G	c.(343-345)acA>acG	p.T115T	TMEM108_ENST00000393130.3_Silent_p.T115T|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Silent_p.T115T	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	115	Pro-rich.					integral component of membrane (GO:0016021)		p.T115T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCTGTCCACAGGGCCCGCTC	0.667																																						uc003eph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(343-345)ACA>ACG		transmembrane protein 108 precursor							48.0	42.0	44.0					3																	133098900		2201	4298	6499	SO:0001819	synonymous_variant	66000					integral to membrane		g.chr3:133098900A>G	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.345A>G	3.37:g.133098900A>G						TMEM108_uc003epi.2_Silent_p.T115T|TMEM108_uc003epj.1_Silent_p.T115T|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Silent_p.T66T	p.T115T	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	619	+			115			Pro-rich.|Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP	ENST00000321871.6	37	c.345A>G	CCDS33858.1																																																																																				PASS	0.667	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		8	40	8	40	---	---	---	---
PCCB	5096	broad.mit.edu	37	3	136012597	136012597	+	Splice_Site	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:136012597G>T	ENST00000251654.4	+	7	724		c.e7-1		PCCB_ENST00000490504.1_Splice_Site|PCCB_ENST00000462637.1_Splice_Site|PCCB_ENST00000482086.1_Splice_Site|PCCB_ENST00000478469.1_Splice_Site|PCCB_ENST00000468777.1_Splice_Site|PCCB_ENST00000469217.1_Splice_Site|PCCB_ENST00000474833.1_Splice_Site|PCCB_ENST00000471595.1_Splice_Site|PCCB_ENST00000466072.1_Splice_Site|PCCB_ENST00000483687.1_Splice_Site	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide						biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.?(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTTTATTTCAGGACACCTCCT	0.493																																						uc003eqy.1																			1	Unknown(1)		lung(1)		0						c.e7-1		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						194.0	188.0	190.0					3																	136012597		2203	4300	6503	SO:0001630	splice_region_variant	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136012597G>T		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.655-1G>T	3.37:g.136012597G>T						PCCB_uc003eqz.1_Splice_Site_p.D219_splice|PCCB_uc011bmc.1_Splice_Site_p.D239_splice|PCCB_uc011bmd.1_Splice_Site_p.D136_splice	p.D219_splice	NM_000532	NP_000523	P05166	PCCB_HUMAN			7	706	+								B7Z2Z4|Q16813|Q96CX0	Splice_Site	SNP	ENST00000251654.4	37	c.655_splice	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137824	0.77775	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3137	0.90210	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCCB	137495287	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.004000	0.93583	2.482000	0.83794	0.650000	0.86243	.		PASS	0.493	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1		Intron	7	213	7	213	---	---	---	---
RBP2	5948	broad.mit.edu	37	3	139172003	139172003	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:139172003C>A	ENST00000232217.2	-	4	416	c.360G>T	c.(358-360)ctG>ctT	p.L120L	RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000510068.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	120					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.L120L(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CACCACAGGTCAGCTCCTGCA	0.582																																						uc003eth.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(358-360)CTG>CTT		retinol binding protein 2, cellular	Vitamin A(DB00162)						76.0	64.0	68.0					3																	139172003		2203	4300	6503	SO:0001819	synonymous_variant	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139172003C>A	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.360G>T	3.37:g.139172003C>A							p.L120L	NM_004164	NP_004155	P50120	RET2_HUMAN			4	411	-			120					A8K7G3|Q6ISQ9|Q6ISS7	Silent	SNP	ENST00000232217.2	37	c.360G>T	CCDS3109.1																																																																																				PASS	0.582	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		10	60	10	60	---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141682763	141682763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:141682763C>A	ENST00000489671.1	-	10	1205	c.775G>T	c.(775-777)Gag>Tag	p.E259*	TFDP2_ENST00000499676.2_Nonsense_Mutation_p.E199*|TFDP2_ENST00000310282.6_Nonsense_Mutation_p.E199*|TFDP2_ENST00000397991.4_Nonsense_Mutation_p.E231*|TFDP2_ENST00000486111.1_Nonsense_Mutation_p.E199*|TFDP2_ENST00000477292.1_Nonsense_Mutation_p.E123*|TFDP2_ENST00000467072.1_Nonsense_Mutation_p.E199*|TFDP2_ENST00000495310.1_Nonsense_Mutation_p.E162*|TFDP2_ENST00000479040.1_Nonsense_Mutation_p.E198*|TFDP2_ENST00000317104.7_Nonsense_Mutation_p.E183*			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	259	DCB1.|Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E259*(1)		kidney(1)|upper_aerodigestive_tract(2)	3						TTTTGCTGCTCATTTTGTCGA	0.393																																						uc003eun.3																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(775-777)GAG>TAG		transcription factor Dp-2 (E2F dimerization							148.0	143.0	144.0					3																	141682763		1842	4079	5921	SO:0001587	stop_gained	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141682763C>A	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.775G>T	3.37:g.141682763C>A	ENSP00000420616:p.Glu259*					TFDP2_uc003euk.3_Nonsense_Mutation_p.E172*|TFDP2_uc010hur.2_Nonsense_Mutation_p.E199*|TFDP2_uc003eul.3_Nonsense_Mutation_p.E199*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.E162*|TFDP2_uc011bng.1_Nonsense_Mutation_p.E123*|TFDP2_uc003eum.3_Nonsense_Mutation_p.E199*	p.E259*	NM_006286	NP_006277	Q14188	TFDP2_HUMAN			10	1154	-			259			Dimerization (Potential).|DCB1.		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Nonsense_Mutation	SNP	ENST00000489671.1	37	c.775G>T	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283053	0.95489	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	.	.	.	5.8	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.1196	16.024	0.80528	0.1355:0.8645:0.0:0.0	.	.	.	.	X	199;259;199;123;162;199;183;199;198;231;199;173;198	.	ENSP00000309622:E199X	E	-	1	0	TFDP2	143165453	1.000000	0.71417	0.305000	0.25099	0.750000	0.42670	7.324000	0.79115	1.404000	0.46819	0.650000	0.86243	GAG		PASS	0.393	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		7	140	7	140	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180322794	180322794	+	Splice_Site	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:180322794A>T	ENST00000296015.4	+	6	988	c.856A>T	c.(856-858)Agc>Tgc	p.S286C	TTC14_ENST00000382584.4_Splice_Site_p.S286C|TTC14_ENST00000412756.2_Splice_Site_p.S286C	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	286							RNA binding (GO:0003723)	p.S286C(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)			AGGCCTACAAAGGTATAGTAC	0.413																																						uc003fkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)AGC>TGC		tetratricopeptide repeat domain 14 isoform a							35.0	35.0	35.0					3																	180322794		2203	4299	6502	SO:0001630	splice_region_variant	151613						RNA binding	g.chr3:180322794A>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.857+1A>T	3.37:g.180322794A>T						TTC14_uc003fkl.2_Missense_Mutation_p.S286C|TTC14_uc003fkm.2_Missense_Mutation_p.S286C	p.S286C	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		6	988	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		286					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.856A>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972148	0.92919	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T	0.50548	0.74;0.76	5.91	5.91	0.95273	.	0.150148	0.85682	D	0.000000	T	0.57710	0.2072	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.988	P;P;P	0.62560	0.904;0.784;0.635	T	0.59413	-0.7459	10	0.59425	D	0.04	-8.5537	16.3469	0.83138	1.0:0.0:0.0:0.0	.	286;286;286	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	C	286	ENSP00000296015:S286C;ENSP00000372027:S286C	ENSP00000296015:S286C	S	+	1	0	TTC14	181805488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.628000	0.74262	2.263000	0.75096	0.528000	0.53228	AGC		PASS	0.413	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	Missense_Mutation	10	22	10	22	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194168693	194168693	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:194168693G>T	ENST00000439040.1	-	13	1987	c.1196C>A	c.(1195-1197)cCc>cAc	p.P399H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.P399H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	399						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P399H(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGTTGGTTTGGGATACAATAT	0.323																																						uc003fty.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1195-1197)CCC>CAC		ATPase type 13A3							167.0	164.0	165.0					3																	194168693		1843	4084	5927	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194168693G>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1196C>A	3.37:g.194168693G>T	ENSP00000416508:p.Pro399His					ATP13A3_uc003ftz.1_Missense_Mutation_p.P105H	p.P399H	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	12	1598	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	399					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1196C>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934064	0.92458	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.90620	-2.7;-2.7	5.69	5.69	0.88448	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97380	0.9982	10	0.87932	D	0	-1.4297	19.8068	0.96534	0.0:0.0:1.0:0.0	.	399	Q9H7F0	AT133_HUMAN	H	399;399;137	ENSP00000416508:P399H;ENSP00000256031:P399H	ENSP00000256031:P399H	P	-	2	0	ATP13A3	195649982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.154000	0.94694	2.658000	0.90341	0.655000	0.94253	CCC		PASS	0.323	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		9	293	9	293	---	---	---	---
PIGZ	80235	broad.mit.edu	37	3	196675077	196675077	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:196675077G>C	ENST00000412723.1	-	3	837	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	231					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.L231V(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GCAAAGGCCAGAAAGGTGGGC	0.657																																						uc003fxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(691-693)CTG>GTG		phosphatidylinositol glycan anchor biosynthesis,							48.0	58.0	54.0					3																	196675077		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675077G>C	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.691C>G	3.37:g.196675077G>C	ENSP00000413405:p.Leu231Val						p.L231V	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	838	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		231			Helical; (Potential).		Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.691C>G	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569623	0.45798	.	.	ENSG00000119227	ENST00000412723	T	0.64260	-0.09	5.13	4.25	0.50352	.	0.000000	0.41396	D	0.000882	T	0.61615	0.2361	L	0.48642	1.525	0.80722	D	1	P	0.43788	0.817	P	0.47705	0.555	T	0.59327	-0.7475	10	0.32370	T	0.25	-6.7569	13.125	0.59349	0.0783:0.0:0.9217:0.0	.	231	Q86VD9	PIGZ_HUMAN	V	231	ENSP00000413405:L231V	ENSP00000413405:L231V	L	-	1	2	PIGZ	198159474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.478000	0.22212	1.305000	0.44909	0.549000	0.68633	CTG		PASS	0.657	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		26	18	26	18	---	---	---	---
MFSD7	84179	broad.mit.edu	37	4	677144	677144	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:677144G>T	ENST00000404286.2	-	8	1024	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K	MFSD7_ENST00000515118.1_Missense_Mutation_p.Q240K|MFSD7_ENST00000347950.5_Missense_Mutation_p.Q218K|MFSD7_ENST00000322224.4_Missense_Mutation_p.Q336K|MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000503156.1_Missense_Mutation_p.Q272K	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	337					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.Q336K(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCTGTCCCTGCAGCTGGGAC	0.667																																						uc003gay.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1009-1011)CAG>AAG		major facilitator superfamily domain containing							31.0	33.0	32.0					4																	677144		2203	4297	6500	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:677144G>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1009C>A	4.37:g.677144G>T	ENSP00000384616:p.Gln337Lys					MFSD7_uc003gaw.2_Missense_Mutation_p.Q79K|MFSD7_uc003gax.2_Missense_Mutation_p.Q336K|MFSD7_uc003gaz.2_Missense_Mutation_p.Q218K|MFSD7_uc003gba.2_Missense_Mutation_p.Q240K|MFSD7_uc003gbb.1_Missense_Mutation_p.Q272K	p.Q337K	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			8	1066	-			337			Helical; (Potential).		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1009C>A		.	.	.	.	.	.	.	.	.	.	G	5.710	0.315462	0.10789	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249	T;T;T;T;T;T	0.58797	1.54;0.42;0.42;1.54;0.42;0.31	4.45	4.45	0.53987	Major facilitator superfamily domain, general substrate transporter (1);	0.842428	0.10943	N	0.617083	T	0.54208	0.1844	M	0.62016	1.91	0.21967	N	0.999445	B;B;B;B;B	0.28055	0.061;0.199;0.199;0.091;0.128	B;B;B;B;B	0.33568	0.102;0.088;0.088;0.166;0.049	T	0.51116	-0.8746	10	0.05959	T	0.93	-1.2908	12.8274	0.57726	0.0:0.0:1.0:0.0	.	272;240;218;337;336	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	K	218;336;337;240;272;154	ENSP00000307545:Q218K;ENSP00000320234:Q336K;ENSP00000384616:Q337K;ENSP00000423204:Q240K;ENSP00000425753:Q272K;ENSP00000425038:Q154K	ENSP00000320234:Q336K	Q	-	1	0	MFSD7	667144	0.568000	0.26635	0.281000	0.24762	0.010000	0.07245	1.099000	0.31013	2.482000	0.83794	0.558000	0.71614	CAG		PASS	0.667	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		9	19	9	19	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1936941	1936941	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:1936941G>T	ENST00000382895.3	+	9	2057	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	WHSC1_ENST00000503128.1_Missense_Mutation_p.E542D|WHSC1_ENST00000398261.1_Missense_Mutation_p.E542D|WHSC1_ENST00000508803.1_Missense_Mutation_p.E542D|WHSC1_ENST00000382892.2_Missense_Mutation_p.E542D|WHSC1_ENST00000382891.5_Missense_Mutation_p.E542D|WHSC1_ENST00000514045.1_Missense_Mutation_p.E542D|WHSC1_ENST00000420906.2_Missense_Mutation_p.E542D	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	542					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E542D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTGAAGCTGAGGACACACCCA	0.458			T	IGH@	MM																																	uc003gdz.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1624-1626)GAG>GAT		Wolf-Hirschhorn syndrome candidate 1 protein							182.0	173.0	176.0					4																	1936941		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1936941G>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1626G>T	4.37:g.1936941G>T	ENSP00000372351:p.Glu542Asp					WHSC1_uc003geb.3_Missense_Mutation_p.E542D|WHSC1_uc003gec.3_Missense_Mutation_p.E542D|WHSC1_uc003ged.3_Missense_Mutation_p.E542D|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.E542D|WHSC1_uc010icd.1_Missense_Mutation_p.E542D|WHSC1_uc003gea.1_Missense_Mutation_p.E542D|WHSC1_uc010ice.1_Missense_Mutation_p.E542D|WHSC1_uc003geh.1_Missense_Mutation_p.E542D	p.E542D	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	7	1802	+		all_epithelial(65;1.34e-05)	542					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.1626G>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421562	0.25639	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.95137	-3.62;1.16;-3.62;-3.62;1.16;-3.62;1.15;1.15	5.7	0.856	0.19019	.	0.111532	0.39759	N	0.001262	D	0.88388	0.6423	N	0.19112	0.55	0.80722	D	1	P;B;P	0.45768	0.866;0.346;0.866	P;B;P	0.46452	0.517;0.053;0.517	T	0.81486	-0.0911	10	0.34782	T	0.22	.	5.6869	0.17807	0.3577:0.1255:0.5168:0.0	.	542;542;542	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	D	542	ENSP00000423972:E542D;ENSP00000421681:E542D;ENSP00000372347:E542D;ENSP00000372348:E542D;ENSP00000399251:E542D;ENSP00000372351:E542D;ENSP00000425761:E542D;ENSP00000381311:E542D	ENSP00000308780:E542D	E	+	3	2	WHSC1	1906739	1.000000	0.71417	0.294000	0.24946	0.362000	0.29581	1.452000	0.35156	-0.163000	0.10946	-0.149000	0.13747	GAG		PASS	0.458	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		6	77	6	77	---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4322746	4322746	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:4322746G>T	ENST00000337872.4	+	8	2122	c.2001G>T	c.(1999-2001)caG>caT	p.Q667H	ZBTB49_ENST00000538529.1_Missense_Mutation_p.Q150H|ZBTB49_ENST00000355834.3_Missense_Mutation_p.Q545H|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	667					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.Q667H(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TTAGTGACCAGGAGAAGCTGA	0.527																																						uc003ghu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1999-2001)CAG>CAT		zinc finger protein 509							53.0	50.0	51.0					4																	4322746		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322746G>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.2001G>T	4.37:g.4322746G>T	ENSP00000338807:p.Gln667His					uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.Q150H|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.Q245H	p.Q667H	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			8	2176	+			667					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.2001G>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957275	0.53400	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.16073	2.37;2.74;3.08	4.19	2.45	0.29901	.	0.310219	0.22983	N	0.053287	T	0.20659	0.0497	L	0.42245	1.32	0.21984	N	0.999431	D;B	0.61697	0.99;0.006	P;B	0.56474	0.799;0.002	T	0.06881	-1.0802	10	0.35671	T	0.21	.	4.0803	0.09922	0.3482:0.1728:0.479:0.0	.	545;667	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	H	545;667;150	ENSP00000348091:Q545H;ENSP00000338807:Q667H;ENSP00000445653:Q150H	ENSP00000338807:Q667H	Q	+	3	2	ZBTB49	4373647	0.009000	0.17119	0.054000	0.19295	0.937000	0.57800	-0.023000	0.12456	0.367000	0.24454	0.455000	0.32223	CAG		PASS	0.527	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		5	46	5	46	---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6882641	6882641	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:6882641G>T	ENST00000307659.5	+	10	4591	c.4136G>T	c.(4135-4137)gGc>gTc	p.G1379V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.G1379V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1379							ATP binding (GO:0005524)	p.G1379V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAAGGCGGAGGCGAGTGGGTG	0.488																																						uc003gjr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4135-4137)GGC>GTC		hypothetical protein LOC9778							54.0	66.0	62.0					4																	6882641		1989	4163	6152	SO:0001583	missense	9778						ATP binding	g.chr4:6882641G>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.4136G>T	4.37:g.6882641G>T	ENSP00000303928:p.Gly1379Val					KIAA0232_uc003gjq.3_Missense_Mutation_p.G1379V	p.G1379V	NM_014743	NP_055558	Q92628	K0232_HUMAN			10	4599	+			1379					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.4136G>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308246	0.23821	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.47	2.7	0.31948	.	0.359128	0.23947	N	0.042994	T	0.29945	0.0749	L	0.27053	0.805	0.19945	N	0.999943	B	0.26672	0.156	B	0.32805	0.153	T	0.27331	-1.0077	9	0.72032	D	0.01	-17.9917	7.2711	0.26258	0.2038:0.1224:0.6738:0.0	.	1379	Q92628	K0232_HUMAN	V	1379	.	ENSP00000303928:G1379V	G	+	2	0	KIAA0232	6933542	0.237000	0.23815	0.035000	0.18076	0.357000	0.29423	1.188000	0.32102	0.647000	0.30713	0.561000	0.74099	GGC		PASS	0.488	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		8	55	8	55	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895358	42895358	+	Silent	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:42895358T>C	ENST00000399770.2	+	1	75	c.75T>C	c.(73-75)agT>agC	p.S25S	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	25					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.S25S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CCTCTCACAGTGGGCGAGTTC	0.512																																						uc003gwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(73-75)AGT>AGC		glutaredoxin, cysteine rich 1							136.0	142.0	140.0					4																	42895358		2014	4171	6185	SO:0001819	synonymous_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895358T>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.75T>C	4.37:g.42895358T>C							p.S25S	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	75	+			25						Silent	SNP	ENST00000399770.2	37	c.75T>C	CCDS43225.1																																																																																				PASS	0.512	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		33	40	33	40	---	---	---	---
SLAIN2	57606	broad.mit.edu	37	4	48422291	48422291	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:48422291C>G	ENST00000264313.6	+	7	1928	c.1510C>G	c.(1510-1512)Cct>Gct	p.P504A	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P337A	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	504					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P504A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						ACCTGGGCCTCCTATGGTTCA	0.507																																						uc003gya.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)CCT>GCT		SLAIN motif family, member 2							148.0	148.0	148.0					4																	48422291		2032	4203	6235	SO:0001583	missense	57606					centrosome		g.chr4:48422291C>G	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1510C>G	4.37:g.48422291C>G	ENSP00000264313:p.Pro504Ala						p.P504A	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN			7	1654	+			504					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.1510C>G	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.506|5.506	0.278323|0.278323	0.10403|0.10403	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000264313;ENST00000512093|ENST00000510595	.|.	.|.	.|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.168993|.	0.37857|.	N|.	0.001908|.	T|T	0.45357|0.45357	0.1338|0.1338	N|N	0.22421|0.22421	0.69|0.69	0.38163|0.38163	D|D	0.939087|0.939087	B|.	0.32101|.	0.356|.	B|.	0.30401|.	0.115|.	T|T	0.44757|0.44757	-0.9307|-0.9307	9|5	0.41790|.	T|.	0.15|.	-7.5921|-7.5921	12.4715|12.4715	0.55790|0.55790	0.0:0.9187:0.0:0.0813|0.0:0.9187:0.0:0.0813	.|.	504|.	Q9P270|.	SLAI2_HUMAN|.	A|C	504;337|112	.|.	ENSP00000264313:P504A|.	P|S	+|+	1|2	0|0	SLAIN2|SLAIN2	48117048|48117048	0.979000|0.979000	0.34478|0.34478	0.991000|0.991000	0.47740|0.47740	0.039000|0.039000	0.13416|0.13416	2.623000|2.623000	0.46435|0.46435	2.275000|2.275000	0.75901|0.75901	0.557000|0.557000	0.71058|0.71058	CCT|TCC		PASS	0.507	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		29	117	29	117	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62598664	62598664	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:62598664C>A	ENST00000514591.1	+	7	916	c.587C>A	c.(586-588)cCa>cAa	p.P196Q	LPHN3_ENST00000507625.1_Missense_Mutation_p.P264Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.P264Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.P264Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.P196Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.P196Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.P264Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.P196Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.P196Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.P264Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.P264Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.P264Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.P196Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.P196Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.P196Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	196	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.P196Q(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTGGAAGACCAACTACAACC	0.458																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(586-588)CCA>CAA		latrophilin 3 precursor							78.0	74.0	75.0					4																	62598664		1913	4125	6038	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598664C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.587C>A	4.37:g.62598664C>A	ENSP00000422533:p.Pro196Gln					LPHN3_uc003hcq.3_Missense_Mutation_p.P196Q|LPHN3_uc010ihg.1_Missense_Mutation_p.P264Q|LPHN3_uc003hcs.1_Missense_Mutation_p.P25Q	p.P196Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	760	+			196			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.587C>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409516	0.11812	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.4	5.4	0.78164	.	0.111800	0.64402	D	0.000007	D	0.87958	0.6309	N	0.17723	0.515	0.52501	D	0.999958	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.996	T	0.82993	-0.0181	10	0.07813	T	0.8	.	13.1642	0.59560	0.1595:0.8404:0.0:0.0	.	196;264;196	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Q	196;196;264;264;196;196;196;196;196;264;264;264;196;196;196;264;264;196	ENSP00000423388:P196Q;ENSP00000422533:P196Q;ENSP00000423787:P264Q;ENSP00000425033:P264Q;ENSP00000424120:P196Q;ENSP00000439831:P196Q;ENSP00000421476:P264Q;ENSP00000424030:P264Q;ENSP00000421372:P264Q;ENSP00000425201:P196Q;ENSP00000423434:P196Q;ENSP00000421627:P196Q;ENSP00000420931:P264Q;ENSP00000425884:P264Q;ENSP00000424258:P196Q	ENSP00000280009:P196Q	P	+	2	0	LPHN3	62281259	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.930000	0.70104	2.546000	0.85860	0.557000	0.71058	CCA		PASS	0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			11	22	11	22	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74021826	74021826	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:74021826G>T	ENST00000358602.4	-	4	878	c.762C>A	c.(760-762)ctC>ctA	p.L254L	ANKRD17_ENST00000514252.1_5'Flank|ANKRD17_ENST00000509867.2_Silent_p.L141L|ANKRD17_ENST00000330838.6_Silent_p.L254L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	254					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.L254L(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)			GCCCTTCAATGAGTAACTTTC	0.418																																						uc003hgp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(760-762)CTC>CTA		ankyrin repeat domain protein 17 isoform a							117.0	101.0	106.0					4																	74021826		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74021826G>T	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.762C>A	4.37:g.74021826G>T						ANKRD17_uc003hgo.2_Silent_p.L141L|ANKRD17_uc003hgq.2_Silent_p.L254L|ANKRD17_uc003hgr.2_Silent_p.L254L|ANKRD17_uc011cbd.1_5'Flank	p.L254L	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)		4	879	-	Breast(15;0.000295)		254			ANK 1.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.762C>A	CCDS34004.1																																																																																				PASS	0.418	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		4	18	4	18	---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82363503	82363503	+	Missense_Mutation	SNP	C	C	A	rs151288385		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:82363503C>A	ENST00000264400.2	-	9	1107	c.956G>T	c.(955-957)cGa>cTa	p.R319L	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R277L|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.R318L	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	319	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R319L(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTTTTTTAGTCGAGAGACTGG	0.368																																						uc003hmi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)CGA>CTA		RasGEF domain family, member 1B							127.0	117.0	120.0					4																	82363503		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82363503C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.956G>T	4.37:g.82363503C>A	ENSP00000264400:p.Arg319Leu					RASGEF1B_uc003hmj.1_Missense_Mutation_p.R318L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R277L	p.R319L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			9	1100	-			319			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.956G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989655	0.93106	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	4.99	4.99	0.66335	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	H	0.98218	4.175	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	0.92807	0.6261	10	0.87932	D	0	.	18.4122	0.90555	0.0:1.0:0.0:0.0	.	277;318;319	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	L	318;319;277;164	ENSP00000425393:R318L;ENSP00000264400:R319L;ENSP00000338437:R277L;ENSP00000426929:R164L	ENSP00000264400:R319L	R	-	2	0	RASGEF1B	82582527	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.251000	0.78297	2.758000	0.94735	0.650000	0.86243	CGA		PASS	0.368	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		4	30	4	30	---	---	---	---
LEF1	51176	broad.mit.edu	37	4	109088716	109088716	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:109088716G>C	ENST00000265165.1	-	1	862	c.208C>G	c.(208-210)Cac>Gac	p.H70D	LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000512172.1_5'Flank|LEF1_ENST00000510624.1_5'Flank|LEF1_ENST00000379951.2_Missense_Mutation_p.H70D|LEF1_ENST00000438313.2_Missense_Mutation_p.H70D	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	70					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H70D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTCACCTCGTGTCCGTTGCTG	0.622																																						uc003hyt.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(208-210)CAC>GAC		lymphoid enhancer-binding factor 1 isoform 1							110.0	103.0	105.0					4																	109088716		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088716G>C		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.208C>G	4.37:g.109088716G>C	ENSP00000265165:p.His70Asp					LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.H70D|LEF1_uc003hyv.1_Missense_Mutation_p.H70D|LEF1_uc010imb.1_RNA	p.H70D	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	863	-			70					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.208C>G	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731123	0.48939	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313	D;D;D	0.99136	-5.45;-5.47;-5.47	4.91	4.91	0.64330	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98792	0.9593	L	0.47716	1.5	0.58432	D	0.999999	D;B;B	0.53462	0.96;0.006;0.003	D;B;B	0.66979	0.948;0.025;0.018	D	0.99525	1.0959	10	0.33141	T	0.24	-24.2839	18.112	0.89539	0.0:0.0:1.0:0.0	.	70;70;70	Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;LEF1_HUMAN	D	70	ENSP00000265165:H70D;ENSP00000369284:H70D;ENSP00000406176:H70D	ENSP00000265165:H70D	H	-	1	0	LEF1	109308165	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.772000	0.91757	2.253000	0.74438	0.591000	0.81541	CAC		PASS	0.622	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			22	21	22	21	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109765719	109765719	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:109765719C>A	ENST00000399132.1	-	30	2115	c.1585G>T	c.(1585-1587)Ggc>Tgc	p.G529C	COL25A1_ENST00000399126.1_Missense_Mutation_p.G529C|COL25A1_ENST00000399127.1_Missense_Mutation_p.G502C	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.G529C(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		cctggtgggcctATGATCTGT	0.438																																						uc003hze.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1585-1587)GGC>TGC		collagen, type XXV, alpha 1 isoform 1							87.0	89.0	89.0					4																	109765719		1839	4095	5934	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109765719C>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1585G>T	4.37:g.109765719C>A	ENSP00000382083:p.Gly529Cys					COL25A1_uc003hzg.2_Missense_Mutation_p.G529C|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G287C	p.G529C	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	29	2116	-		Hepatocellular(203;0.217)	529			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000399132.1	37	c.1585G>T	CCDS43258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.21|15.21	2.766937|2.766937	0.49574|0.49574	.|.	.|.	ENSG00000188517|ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126|ENST00000443653	D;D;D|.	0.99369|.	-4.64;-5.78;-4.64|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85856|0.85856	0.5794|0.5794	M|M	0.94021|0.94021	3.485|3.485	0.49687|0.49687	D|D	0.999819|0.999819	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.89208|0.89208	0.3562|0.3562	9|5	.|.	.|.	.|.	-4.3192|-4.3192	14.8207|14.8207	0.70070|0.70070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	529;529|.	Q9BXS0-2;Q9BXS0|.	.;COPA1_HUMAN|.	C|M	529;531;510;502;529|444	ENSP00000382083:G529C;ENSP00000382078:G502C;ENSP00000382077:G529C|.	.|.	G|R	-|-	1|2	0|0	COL25A1|COL25A1	109985168|109985168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.549000|3.549000	0.53681|0.53681	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	GGC|AGG		PASS	0.438	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		23	21	23	21	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123161457	123161457	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:123161457C>A	ENST00000264501.4	+	29	4993	c.4620C>A	c.(4618-4620)acC>acA	p.T1540T	KIAA1109_ENST00000388738.3_Silent_p.T1540T|KIAA1109_ENST00000455637.1_Silent_p.T1540T			Q2LD37	K1109_HUMAN	KIAA1109	1540					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.T1540T(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						ATACACCAACCAGTGAAGAAA	0.363																																						uc003ieh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4618-4620)ACC>ACA		fragile site-associated protein							102.0	97.0	99.0					4																	123161457		1877	4109	5986	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123161457C>A	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.4620C>A	4.37:g.123161457C>A						KIAA1109_uc003iei.1_Silent_p.T1293T|KIAA1109_uc010ins.1_Silent_p.T883T|KIAA1109_uc003iek.2_Silent_p.T159T	p.T1540T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			27	4665	+			1540					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.4620C>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	6.269	0.417766	0.11870	.	.	ENSG00000138688	ENST00000446180	.	.	.	5.39	1.6	0.23607	.	.	.	.	.	T	0.43656	0.1257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21211	-1.0252	4	.	.	.	.	2.3232	0.04216	0.1224:0.3182:0.1194:0.44	.	.	.	.	Q	113	.	.	P	+	2	0	KIAA1109	123380907	0.822000	0.29219	0.998000	0.56505	0.993000	0.82548	-0.100000	0.10990	0.039000	0.15632	-0.143000	0.13931	CCA		PASS	0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	66	5	66	---	---	---	---
SLC25A31	83447	broad.mit.edu	37	4	128688282	128688282	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:128688282T>A	ENST00000281154.4	+	4	708	c.540T>A	c.(538-540)gaT>gaA	p.D180E		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	180					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.D180E(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAAAATCAGATGGAATTGCTG	0.368																																						uc003ifl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GAT>GAA		solute carrier family 25 (mitochondrial carrier;							173.0	170.0	171.0					4																	128688282		2203	4300	6503	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128688282T>A	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.540T>A	4.37:g.128688282T>A	ENSP00000281154:p.Asp180Glu						p.D180E	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			4	686	+			180			Helical; Name=4; (Potential).|Solcar 2.			Missense_Mutation	SNP	ENST00000281154.4	37	c.540T>A	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123334	0.56613	.	.	ENSG00000151475	ENST00000281154	T	0.73363	-0.74	5.18	2.69	0.31865	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000027	T	0.60157	0.2247	N	0.20445	0.575	0.39990	D	0.975037	B	0.27380	0.177	B	0.35688	0.208	T	0.56757	-0.7926	10	0.87932	D	0	-22.2849	6.1796	0.20463	0.1437:0.0796:0.0:0.7767	.	180	Q9H0C2	ADT4_HUMAN	E	180	ENSP00000281154:D180E	ENSP00000281154:D180E	D	+	3	2	SLC25A31	128907732	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.727000	0.25999	0.412000	0.25729	0.482000	0.46254	GAT		PASS	0.368	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		20	44	20	44	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156162	155156162	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:155156162C>T	ENST00000357232.4	-	25	8276	c.8277G>A	c.(8275-8277)agG>agA	p.R2759R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2759					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2759R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAGCTGCACACCTTACTTCCT	0.438																																						uc003inw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(8275-8277)AGG>AGA		dachsous 2 isoform 1							92.0	85.0	87.0					4																	155156162		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156162C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8277G>A	4.37:g.155156162C>T							p.R2759R	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8277	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2759					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.8277G>A	CCDS3785.1																																																																																				PASS	0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		19	30	19	30	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155241661	155241661	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:155241661C>A	ENST00000357232.4	-	14	3524	c.3525G>T	c.(3523-3525)gaG>gaT	p.E1175D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1175	Cadherin 10. {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.E1175D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGTGACATCCTCTTTGACAT	0.458																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3523-3525)GAG>GAT		dachsous 2 isoform 1							218.0	202.0	207.0					4																	155241661		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241661C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3525G>T	4.37:g.155241661C>A	ENSP00000349768:p.Glu1175Asp						p.E1175D	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3525	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1175			Cadherin 10.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3525G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832133	0.71258	.	.	ENSG00000197410	ENST00000357232	T	0.75367	-0.93	5.56	3.58	0.41010	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.87692	0.6241	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87810	0.2631	10	0.66056	D	0.02	.	7.3022	0.26426	0.0:0.6521:0.0:0.3479	.	1175	Q6V1P9	PCD23_HUMAN	D	1175	ENSP00000349768:E1175D	ENSP00000349768:E1175D	E	-	3	2	DCHS2	155461111	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.697000	0.25556	1.362000	0.46000	0.467000	0.42956	GAG		PASS	0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		5	52	5	52	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155510624	155510624	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:155510624C>T	ENST00000302053.3	-	2	223	c.145G>A	c.(145-147)Gat>Aat	p.D49N	FGA_ENST00000403106.3_Missense_Mutation_p.D49N	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	49					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.D49N(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGTCTGAATCTTTGCAGGCA	0.527																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(145-147)GAT>AAT		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						143.0	135.0	138.0					4																	155510624		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155510624C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.145G>A	4.37:g.155510624C>T	ENSP00000306361:p.Asp49Asn					FGA_uc003ioe.1_Missense_Mutation_p.D49N|FGA_uc003iof.1_Missense_Mutation_p.D49N	p.D49N	NM_000508	NP_000499	P02671	FIBA_HUMAN			2	203	-	all_hematologic(180;0.215)	Renal(120;0.0458)	49					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.145G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058489	0.93846	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.86097	-2.07;-2.07	5.59	5.59	0.84812	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.734425	0.14099	N	0.341534	T	0.81987	0.4939	L	0.29908	0.895	0.48975	D	0.999732	B;B;B	0.34290	0.196;0.392;0.447	B;B;B	0.35688	0.208;0.132;0.208	T	0.81560	-0.0877	10	0.87932	D	0	.	19.5964	0.95541	0.0:1.0:0.0:0.0	.	49;49;49	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	N	49	ENSP00000306361:D49N;ENSP00000385981:D49N	ENSP00000306361:D49N	D	-	1	0	FGA	155730074	1.000000	0.71417	0.972000	0.41901	0.791000	0.44710	5.566000	0.67372	2.627000	0.88993	0.655000	0.94253	GAT		PASS	0.527	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		35	41	35	41	---	---	---	---
ETFDH	2110	broad.mit.edu	37	4	159627943	159627943	+	Missense_Mutation	SNP	T	T	C	rs140184655		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:159627943T>C	ENST00000511912.1	+	12	1963	c.1631T>C	c.(1630-1632)aTa>aCa	p.I544T	ETFDH_ENST00000307738.5_Missense_Mutation_p.I497T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	544					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)	p.I544T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GATGACAGTATACCTGTAAAT	0.413																																						uc003iqb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(1630-1632)ATA>ACA		electron-transferring-flavoprotein dehydrogenase		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	107.0	108.0	107.0		1631	4.5	0.1	4	dbSNP_134	107	0,8600		0,0,4300	no	missense	ETFDH	NM_004453.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	544/618	159627943	1,13005	2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627943T>C	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1631T>C	4.37:g.159627943T>C	ENSP00000426638:p.Ile544Thr					ETFDH_uc011cjg.1_Missense_Mutation_p.I497T|ETFDH_uc010iqr.2_Missense_Mutation_p.I141T|ETFDH_uc011cjh.1_Missense_Mutation_p.I483T|ETFDH_uc010iqs.2_Missense_Mutation_p.I466T	p.I544T	NM_004453	NP_004444	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	12	1963	+	all_hematologic(180;0.24)	Renal(120;0.0458)	544					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1631T>C	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	T	8.723	0.914793	0.17907	2.27E-4	0.0	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94000	-3.33;-3.33	5.64	4.47	0.54385	.	0.534072	0.21216	N	0.078236	D	0.90563	0.7042	L	0.55481	1.735	0.23120	N	0.998264	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.13407	0.009;0.006;0.007	T	0.81707	-0.0810	10	0.42905	T	0.14	-3.128	11.3646	0.49664	0.0:0.0711:0.0:0.9289	.	497;483;544	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	T	544;497	ENSP00000426638:I544T;ENSP00000303552:I497T	ENSP00000303552:I497T	I	+	2	0	ETFDH	159847393	0.987000	0.35691	0.072000	0.20136	0.435000	0.31806	8.040000	0.89188	0.972000	0.38314	0.482000	0.46254	ATA		PASS	0.413	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			32	51	32	51	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173232904	173232904	+	Splice_Site	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:173232904G>A	ENST00000506823.1	+	4	1043		c.e4+1		GALNTL6_ENST00000508122.1_Splice_Site|GALNTL6_ENST00000457021.1_Splice_Site	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6						protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GTCATGCTAAGTGAGTATCAG	0.363																																						uc003isv.2																			1	Unknown(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.e4+1		N-acetylgalactosaminyltransferase-like 6							165.0	170.0	169.0					4																	173232904		2203	4300	6503	SO:0001630	splice_region_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173232904G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.386+1G>A	4.37:g.173232904G>A							p.N129_splice	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			4	1122	+								Q2L4S6	Splice_Site	SNP	ENST00000506823.1	37	c.386_splice	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191661	0.38707	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4948	0.87714	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNTL6	173469479	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	8.971000	0.93419	2.199000	0.70637	0.462000	0.41574	.		PASS	0.363	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	Intron	15	56	15	56	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186578704	186578704	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:186578704G>T	ENST00000284776.7	-	6	650	c.141C>A	c.(139-141)acC>acA	p.T47T	SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000393528.3_Silent_p.T93T|SORBS2_ENST00000449407.2_Silent_p.T133T|SORBS2_ENST00000431808.1_Silent_p.T47T|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000437304.2_Silent_p.T226T|SORBS2_ENST00000448662.2_Silent_p.T116T|SORBS2_ENST00000355634.5_Silent_p.T147T|SORBS2_ENST00000319471.9_Silent_p.T133T	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	47					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.T116T(1)|p.T226T(1)|p.T93T(1)|p.T47T(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGCTGCTGGTGGTGCCATCCA	0.512																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(139-141)ACC>ACA		sorbin and SH3 domain containing 2 isoform 2							109.0	106.0	107.0					4																	186578704		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186578704G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.141C>A	4.37:g.186578704G>T						SORBS2_uc003iyh.2_Silent_p.T226T|SORBS2_uc011ckw.1_Silent_p.T116T|SORBS2_uc003iyi.2_Silent_p.T133T|SORBS2_uc011ckx.1_Silent_p.T93T|SORBS2_uc003iyk.2_Silent_p.T133T|SORBS2_uc003iym.2_Silent_p.T147T|SORBS2_uc003iyn.1_Silent_p.T93T|SORBS2_uc011cky.1_Silent_p.T110T|SORBS2_uc003iyp.2_Silent_p.T147T|SORBS2_uc011cku.1_5'Flank|SORBS2_uc011ckv.1_5'Flank|SORBS2_uc003iyd.2_Silent_p.T226T|SORBS2_uc003iye.2_Silent_p.T47T|SORBS2_uc003iya.2_Silent_p.T47T|SORBS2_uc003iyb.2_Silent_p.T47T|SORBS2_uc003iyc.2_Silent_p.T47T|SORBS2_uc003iyg.2_Silent_p.T133T|SORBS2_uc003iyf.2_Silent_p.T110T|SORBS2_uc003iyo.1_5'Flank	p.T47T	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	6	999	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	47					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.141C>A	CCDS3845.1																																																																																				PASS	0.512	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	37	5	37	---	---	---	---
OTULIN	90268	broad.mit.edu	37	5	14690237	14690237	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:14690237C>T	ENST00000284274.4	+	6	762	c.684C>T	c.(682-684)ctC>ctT	p.L228L		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		228	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.L228L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AATATAGCCTCTATGAAGCTG	0.383																																						uc003jfk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(682-684)CTC>CTT		hypothetical protein LOC90268							81.0	77.0	78.0					5																	14690237		1835	4100	5935	SO:0001819	synonymous_variant	90268							g.chr5:14690237C>T																												ENST00000284274.4:c.684C>T	5.37:g.14690237C>T							p.L228L	NM_138348	NP_612357	Q96BN8	F105B_HUMAN			6	836	+	Lung NSC(4;0.00696)		228					D3DTD3|Q8NAS0|Q96IA3	Silent	SNP	ENST00000284274.4	37	c.684C>T	CCDS43302.1																																																																																				PASS	0.383	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			8	69	8	69	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492992	24492992	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:24492992C>T	ENST00000264463.4	-	10	2065	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G520S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGTCCACCTAAAGGGTCA	0.328										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1558-1560)GGT>AGT		cadherin 10, type 2 preproprotein							168.0	181.0	177.0					5																	24492992		2203	4298	6501	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492992C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1558G>A	5.37:g.24492992C>T	ENSP00000264463:p.Gly520Ser	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G520S	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	1890	-			520			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1558G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859074	0.32884	.	.	ENSG00000040731	ENST00000264463	T	0.51071	0.72	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.179260	0.48286	D	0.000185	T	0.26231	0.0640	N	0.02345	-0.59	0.44862	D	0.997871	B	0.13594	0.008	B	0.17722	0.019	T	0.08249	-1.0731	10	0.30078	T	0.28	.	17.5183	0.87780	0.0:1.0:0.0:0.0	.	520	Q9Y6N8	CAD10_HUMAN	S	520	ENSP00000264463:G520S	ENSP00000264463:G520S	G	-	1	0	CDH10	24528749	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.231000	0.51294	2.449000	0.82847	0.585000	0.79938	GGT		PASS	0.328	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		19	88	19	88	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31526339	31526339	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:31526339C>A	ENST00000511367.2	-	4	945	c.701G>T	c.(700-702)cGa>cTa	p.R234L	DROSHA_ENST00000513349.1_Missense_Mutation_p.R234L|DROSHA_ENST00000344624.3_Missense_Mutation_p.R234L|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000442743.1_Missense_Mutation_p.R234L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	234	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R234L(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACTGTGATCTCGGTGCCTGTG	0.577																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)CGA>CTA		ribonuclease III, nuclear isoform 1							137.0	137.0	137.0					5																	31526339		1984	4162	6146	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526339C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.701G>T	5.37:g.31526339C>A	ENSP00000425979:p.Arg234Leu					RNASEN_uc003jhh.2_Missense_Mutation_p.R234L|RNASEN_uc003jhi.2_Missense_Mutation_p.R234L|RNASEN_uc010iui.1_Missense_Mutation_p.R225L	p.R234L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			4	1060	-			234			Arg-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.701G>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371931	0.61624	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	T;T;T;T;T	0.56776	1.06;1.06;0.44;0.44;0.55	4.71	4.71	0.59529	.	0.067362	0.56097	D	0.000027	T	0.55909	0.1950	L	0.29908	0.895	0.50813	D	0.999899	D;D;D	0.60575	0.988;0.985;0.985	P;P;P	0.54889	0.763;0.691;0.691	T	0.59440	-0.7454	10	0.51188	T	0.08	-10.2715	18.0517	0.89351	0.0:1.0:0.0:0.0	.	234;234;234	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	L	234;234;234;234;227;227;32	ENSP00000425979:R234L;ENSP00000339845:R234L;ENSP00000409335:R234L;ENSP00000424161:R234L;ENSP00000428782:R32L	ENSP00000265075:R227L	R	-	2	0	DROSHA	31562096	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.632000	0.61311	2.327000	0.79052	0.655000	0.94253	CGA		PASS	0.577	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		4	68	4	68	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36035916	36035916	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:36035916G>T	ENST00000282507.3	-	7	1557	c.1456C>A	c.(1456-1458)Ctc>Atc	p.L486I	UGT3A2_ENST00000513300.1_Missense_Mutation_p.L452I|UGT3A2_ENST00000545528.1_Missense_Mutation_p.L184I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	486				L -> F (in Ref. 1; AAQ88782). {ECO:0000305}.	cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.L486I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAACGTCGAGCAGGTACTGC	0.607																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1456-1458)CTC>ATC		UDP glycosyltransferase 3 family, polypeptide A2							63.0	55.0	58.0					5																	36035916		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035916G>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1456C>A	5.37:g.36035916G>T	ENSP00000282507:p.Leu486Ile					UGT3A2_uc011cos.1_Missense_Mutation_p.L452I|UGT3A2_uc011cot.1_Missense_Mutation_p.L184I	p.L486I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1549	-	all_lung(31;0.000179)		486	L -> F (in Ref. 1; AAQ88782).		Helical; (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1456C>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	5.500	0.277329	0.10403	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.72394	-0.65;-0.65;-0.65	2.74	1.86	0.25419	.	0.000000	0.49916	U	0.000128	T	0.62122	0.2402	L	0.61387	1.9	0.40157	D	0.977014	B;B	0.29162	0.235;0.235	B;B	0.26693	0.072;0.072	T	0.61004	-0.7150	10	0.54805	T	0.06	.	6.9458	0.24518	0.2448:0.0:0.7551:0.0	.	452;486	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	486;452;184	ENSP00000282507:L486I;ENSP00000427404:L452I;ENSP00000445367:L184I	ENSP00000282507:L486I	L	-	1	0	UGT3A2	36071673	0.995000	0.38212	0.527000	0.27925	0.099000	0.18886	1.386000	0.34419	0.711000	0.32018	-0.244000	0.11960	CTC		PASS	0.607	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		8	47	8	47	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202153	39202153	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:39202153A>T	ENST00000351578.6	-	2	1100	c.910T>A	c.(910-912)Ttg>Atg	p.L304M	FYB_ENST00000505428.1_Missense_Mutation_p.L304M|FYB_ENST00000512982.1_Missense_Mutation_p.L304M|FYB_ENST00000540520.1_Missense_Mutation_p.L314M|FYB_ENST00000515010.1_Missense_Mutation_p.L304M	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	304					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.L304M(3)|p.L314M(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCTGAGGCCAACTCTTCCTGA	0.507																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(910-912)TTG>ATG		FYN binding protein (FYB-120/130) isoform 2							98.0	98.0	98.0					5																	39202153		1849	4094	5943	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202153A>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.910T>A	5.37:g.39202153A>T	ENSP00000316460:p.Leu304Met					FYB_uc003jlt.2_Missense_Mutation_p.L304M|FYB_uc003jlu.2_Missense_Mutation_p.L304M|FYB_uc011cpl.1_Missense_Mutation_p.L314M	p.L304M	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	977	-	all_lung(31;0.000343)		304					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.910T>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	A	4.880	0.163553	0.09287	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.51	-8.84	0.00803	.	2.052200	0.02044	N	0.049524	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.25105	0.019;0.118	B;B	0.24541	0.004;0.054	T	0.18999	-1.0319	10	0.48119	T	0.1	2.7673	2.3249	0.04220	0.2885:0.3343:0.2688:0.1084	.	314;304	B4DLN2;O15117	.;FYB_HUMAN	M	304;304;304;304;314;304	ENSP00000316460:L304M;ENSP00000426346:L304M;ENSP00000425845:L304M;ENSP00000427114:L304M;ENSP00000442840:L314M	ENSP00000316460:L304M	L	-	1	2	FYB	39237910	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.184000	0.09698	-1.999000	0.00967	-0.290000	0.09829	TTG		PASS	0.507	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		10	69	10	69	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262236	45262236	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:45262236C>G	ENST00000303230.4	-	8	2517	c.2460G>C	c.(2458-2460)acG>acC	p.T820T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	820					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.T820T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGGGGACCGCCGTCACGGGTT	0.682																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2458-2460)ACG>ACC		hyperpolarization activated cyclic							30.0	32.0	31.0					5																	45262236		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262236C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2460G>C	5.37:g.45262236C>G							p.T820T	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2485	-			820			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2460G>C	CCDS3952.1																																																																																				PASS	0.682	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	17	9	17	---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50090868	50090868	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:50090868A>T	ENST00000281631.5	+	12	1203	c.1045A>T	c.(1045-1047)Agg>Tgg	p.R349W	PARP8_ENST00000505554.1_Missense_Mutation_p.R328W|PARP8_ENST00000514342.2_Missense_Mutation_p.R102W|PARP8_ENST00000503750.2_Missense_Mutation_p.R349W|PARP8_ENST00000505697.2_Missense_Mutation_p.R349W|PARP8_ENST00000514067.2_Missense_Mutation_p.R349W|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	349						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R349W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAGCGATCCCAGGGCGGAGCA	0.512																																						uc003jon.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(1045-1047)AGG>TGG		poly (ADP-ribose) polymerase family, member 8							99.0	91.0	94.0					5																	50090868		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090868A>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1045A>T	5.37:g.50090868A>T	ENSP00000281631:p.Arg349Trp					PARP8_uc011cpz.1_Missense_Mutation_p.R241W|PARP8_uc003joo.2_Missense_Mutation_p.R349W|PARP8_uc003jop.2_Missense_Mutation_p.R349W	p.R349W	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			13	1227	+		Lung NSC(810;0.0305)|Breast(144;0.222)	349					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1045A>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757880	0.69648	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.19	2.6	0.31112	.	0.061264	0.64402	D	0.000013	T	0.64972	0.2647	L	0.39898	1.24	0.51767	D	0.999931	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.987;0.987	T	0.62374	-0.6868	8	.	.	.	-7.0076	13.1053	0.59244	0.6652:0.3348:0.0:0.0	.	241;349;349	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	W	349;349;102;349;349;328;102;102	.	.	R	+	1	2	PARP8	50126625	0.782000	0.28689	1.000000	0.80357	0.969000	0.65631	1.485000	0.35519	0.874000	0.35823	0.533000	0.62120	AGG		PASS	0.512	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		25	57	25	57	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52223413	52223413	+	Splice_Site	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:52223413G>A	ENST00000282588.6	+	20	3071		c.e20-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.?(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCTCTTCCTAGGCTATCCAAA	0.398																																						uc003jou.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)	3						c.e20-1		integrin, alpha 1 precursor							146.0	142.0	143.0					5																	52223413		2203	4300	6503	SO:0001630	splice_region_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52223413G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2614-1G>A	5.37:g.52223413G>A						ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.A403_splice	p.A872_splice	NM_181501	NP_852478	P56199	ITA1_HUMAN			20	2666	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)						B2RNU0	Splice_Site	SNP	ENST00000282588.6	37	c.2614_splice	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063400	0.76187	.	.	ENSG00000213949	ENST00000282588	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7317	0.85436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA1	52259170	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	5.629000	0.67798	2.765000	0.95021	0.650000	0.86243	.		PASS	0.398	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	Intron	7	41	7	41	---	---	---	---
GZMA	3001	broad.mit.edu	37	5	54404139	54404139	+	Nonsense_Mutation	SNP	C	C	T	rs368948899		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:54404139C>T	ENST00000274306.6	+	4	579	c.544C>T	c.(544-546)Cga>Tga	p.R182*		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	182	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.R182*(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGCAATGATCGAAATCACTA	0.428																																						uc003jpm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(544-546)CGA>TGA		granzyme A precursor		C	stop/ARG	0,4406		0,0,2203	82.0	81.0	81.0		544	-8.4	0.0	5		81	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GZMA	NM_006144.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		182/263	54404139	1,13005	2203	4300	6503	SO:0001587	stop_gained	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54404139C>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.544C>T	5.37:g.54404139C>T	ENSP00000274306:p.Arg182*						p.R182*	NM_006144	NP_006135	P12544	GRAA_HUMAN			4	581	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	182			Peptidase S1.		A4PHN1|Q6IB36	Nonsense_Mutation	SNP	ENST00000274306.6	37	c.544C>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618332	0.28801	0.0	1.16E-4	ENSG00000145649	ENST00000274306	.	.	.	5.93	-8.43	0.00953	.	2.190060	0.01699	N	0.027071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	12.8443	0.57821	0.3025:0.2035:0.4939:0.0	.	.	.	.	X	182	.	ENSP00000274306:R182X	R	+	1	2	GZMA	54439896	0.000000	0.05858	0.001000	0.08648	0.322000	0.28314	-2.266000	0.01171	-1.304000	0.02329	0.655000	0.94253	CGA		PASS	0.428	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		5	41	5	41	---	---	---	---
ANKRD55	79722	broad.mit.edu	37	5	55422770	55422770	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:55422770T>C	ENST00000341048.4	-	8	927	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	RNU6-299P_ENST00000517223.1_RNA|ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Missense_Mutation_p.Q216R	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	259								p.Q259R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATCCAGAGCCTGCAGGTTACA	0.458																																						uc003jqu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(775-777)CAG>CGG		ankyrin repeat domain 55 isoform 1							140.0	135.0	137.0					5																	55422770		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55422770T>C	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.776A>G	5.37:g.55422770T>C	ENSP00000342295:p.Gln259Arg						p.Q259R	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			8	928	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	258			ANK 7.		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.776A>G	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601973	0.66445	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958	T;T	0.52295	2.43;0.67	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	N	0.14661	0.345	0.54753	D	0.99998	D	0.76494	0.999	D	0.83275	0.996	T	0.60388	-0.7273	10	0.59425	D	0.04	.	15.8326	0.78769	0.0:0.0:0.0:1.0	.	259	B3KVT8	.	R	259;259;216	ENSP00000342295:Q259R;ENSP00000424230:Q216R	ENSP00000342295:Q259R	Q	-	2	0	ANKRD55	55458527	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.720000	0.74723	2.146000	0.66826	0.460000	0.39030	CAG		PASS	0.458	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		15	124	15	124	---	---	---	---
TMEM174	134288	broad.mit.edu	37	5	72469360	72469360	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:72469360C>T	ENST00000296776.5	+	1	339	c.290C>T	c.(289-291)tCc>tTc	p.S97F	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	97						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S97F(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AAAATGCTCTCCTGCCAGTTG	0.527																																						uc010izc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)TCC>TTC		transmembrane protein 174							88.0	90.0	89.0					5																	72469360		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469360C>T	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.290C>T	5.37:g.72469360C>T	ENSP00000296776:p.Ser97Phe						p.S97F	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	338	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	97					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.290C>T	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249415	0.80024	.	.	ENSG00000164325	ENST00000296776	.	.	.	6.02	5.15	0.70609	.	0.117669	0.64402	D	0.000017	T	0.51058	0.1652	N	0.19112	0.55	0.36812	D	0.885913	D	0.59767	0.986	P	0.58454	0.839	T	0.59118	-0.7514	9	0.72032	D	0.01	-26.0368	10.3831	0.44123	0.1358:0.7951:0.0:0.0691	.	97	Q8WUU8	TM174_HUMAN	F	97	.	ENSP00000296776:S97F	S	+	2	0	TMEM174	72505116	0.218000	0.23608	0.996000	0.52242	0.973000	0.67179	2.919000	0.48836	2.865000	0.98341	0.655000	0.94253	TCC		PASS	0.527	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		22	34	22	34	---	---	---	---
SV2C	22987	broad.mit.edu	37	5	75594662	75594662	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:75594662G>C	ENST00000502798.2	+	10	1988	c.1546G>C	c.(1546-1548)Gtt>Ctt	p.V516L	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.V516L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	516					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.V516L(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CAAAGACTCTGTTTTTAAGTC	0.383																																						uc003kei.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1546-1548)GTT>CTT		synaptic vesicle glycoprotein 2C							206.0	187.0	193.0					5																	75594662		1855	4102	5957	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75594662G>C	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1546G>C	5.37:g.75594662G>C	ENSP00000423541:p.Val516Leu						p.V516L	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	10	1680	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	516			Extracellular (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.1546G>C	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.327985	0.01309	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.40476	1.03;1.03	5.21	1.3	0.21679	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.600559	0.17930	N	0.157211	T	0.11110	0.0271	N	0.01122	-1.005	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35992	-0.9766	10	0.02654	T	1	-1.1451	6.9596	0.24590	0.2142:0.384:0.4017:0.0	.	516	Q496J9	SV2C_HUMAN	L	516	ENSP00000423541:V516L;ENSP00000316983:V516L	ENSP00000316983:V516L	V	+	1	0	SV2C	75630418	0.105000	0.21958	0.011000	0.14972	0.627000	0.37826	1.315000	0.33608	0.279000	0.22186	0.650000	0.86243	GTT		PASS	0.383	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			11	23	11	23	---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118970254	118970254	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:118970254A>G	ENST00000515256.1	+	3	983	c.811A>G	c.(811-813)Atg>Gtg	p.M271V				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	271					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M271V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GACAGGCAACATGGAATCAGA	0.547																																						uc003ksm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(811-813)ATG>GTG		family with sequence similarity 170, member A							117.0	125.0	122.0					5																	118970254		2058	4218	6276	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970254A>G	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.811A>G	5.37:g.118970254A>G	ENSP00000422684:p.Met271Val					FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.M271V|FAM170A_uc003kso.2_Missense_Mutation_p.M224V	p.M271V	NM_182761	NP_877438	A1A519	F170A_HUMAN			3	1021	+			271					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.811A>G		.	.	.	.	.	.	.	.	.	.	A	0.010	-1.757742	0.00657	.	.	ENSG00000164334	ENST00000515256	T	0.26957	1.7	4.59	-0.355	0.12587	.	1.045340	0.07539	N	0.913546	T	0.09024	0.0223	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	9	.	.	.	-0.5111	7.6472	0.28327	0.4892:0.0:0.5108:0.0	.	224;271	D6RIE9;A1A519	.;F170A_HUMAN	V	271	ENSP00000422684:M271V	.	M	+	1	0	FAM170A	118998153	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.581000	0.05820	-0.086000	0.12550	-0.242000	0.12053	ATG		PASS	0.547	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		87	67	87	67	---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121761083	121761083	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:121761083G>C	ENST00000261368.8	+	5	1301	c.1039G>C	c.(1039-1041)Gac>Cac	p.D347H	SNCAIP_ENST00000261367.7_Missense_Mutation_p.D394H|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R56P|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.D394H|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D394H|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379538.3_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	347					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.D394H(2)|p.D347H(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAAAATTCACGACGAAAATGG	0.423																																						uc003ksw.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1039-1041)GAC>CAC		synuclein alpha interacting protein							121.0	127.0	125.0					5																	121761083		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121761083G>C	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1039G>C	5.37:g.121761083G>C	ENSP00000261368:p.Asp347His					SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.D347H|SNCAIP_uc003ksx.1_Missense_Mutation_p.D394H|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.D41H|SNCAIP_uc010jcx.1_Intron	p.D347H	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	5	1245	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	347					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1039G>C	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.518860|3.518860	0.64634|0.64634	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000261368;ENST00000379533;ENST00000261367;ENST00000503116|ENST00000504884	T;T;T;T|T	0.57273|0.54479	0.41;0.41;0.41;0.41|0.57	5.54|5.54	5.54|5.54	0.83059|0.83059	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81503|0.81503	0.4836|0.4836	H|H	0.94698|0.94698	3.57|3.57	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	D|D	0.86466|0.86466	0.1782|0.1782	10|7	0.87932|0.87932	D|D	0|0	-24.4555|-24.4555	19.4884|19.4884	0.95039|0.95039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	394;394;347|.	Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5|.	.;.;SNCAP_HUMAN|.	H|P	347;394;394;394|56	ENSP00000261368:D347H;ENSP00000368848:D394H;ENSP00000261367:D394H;ENSP00000423199:D394H|ENSP00000426904:R56P	ENSP00000261367:D394H|ENSP00000378849:R56P	D|R	+|+	1|2	0|0	SNCAIP|SNCAIP	121788982|121788982	1.000000|1.000000	0.71417|0.71417	0.209000|0.209000	0.23619|0.23619	0.360000|0.360000	0.29518|0.29518	9.174000|9.174000	0.94824|0.94824	2.609000|2.609000	0.88269|0.88269	0.563000|0.563000	0.77884|0.77884	GAC|CGA		PASS	0.423	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			4	107	4	107	---	---	---	---
WNT8A	7478	broad.mit.edu	37	5	137424656	137424656	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:137424656G>T	ENST00000398754.1	+	5	413	c.408G>T	c.(406-408)gtG>gtT	p.V136V	WNT8A_ENST00000506684.1_Silent_p.V154V	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	136					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.V136V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCGACAATGTGGAATTTGGGG	0.532																																						uc003lcd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(406-408)GTG>GTT		wingless-type MMTV integration site family,							105.0	117.0	113.0					5																	137424656		2194	4297	6491	SO:0001819	synonymous_variant	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137424656G>T	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.408G>T	5.37:g.137424656G>T						BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.V154V|WNT8A_uc011cyk.1_Silent_p.V154V	p.V136V	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	413	+			136					Q96S51	Silent	SNP	ENST00000398754.1	37	c.408G>T	CCDS43368.1																																																																																				PASS	0.532	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		6	95	6	95	---	---	---	---
REEP2	51308	broad.mit.edu	37	5	137781195	137781195	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:137781195C>T	ENST00000254901.5	+	7	720	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	REEP2_ENST00000506158.1_Missense_Mutation_p.P162S|REEP2_ENST00000378339.2_Missense_Mutation_p.P202S	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	200					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.P200S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCACAAACCCGGCAGATTC	0.577																																						uc003lcz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)CCG>TCG		receptor accessory protein 2							52.0	58.0	56.0					5																	137781195		2203	4300	6503	SO:0001583	missense	51308					integral to membrane		g.chr5:137781195C>T	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.598C>T	5.37:g.137781195C>T	ENSP00000254901:p.Pro200Ser					REEP2_uc003lda.2_Missense_Mutation_p.P202S|REEP2_uc011cyt.1_Missense_Mutation_p.P161S	p.P200S	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		7	720	+			200					Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	c.598C>T	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	1.339	-0.594733	0.03771	.	.	ENSG00000132563	ENST00000378339;ENST00000254901;ENST00000506158	D;D;T	0.86694	-2.13;-2.16;-1.32	5.14	4.27	0.50696	.	0.787170	0.11883	N	0.520366	T	0.79627	0.4478	L	0.29908	0.895	0.26150	N	0.980151	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.54536	-0.8279	10	0.02654	T	1	-14.6084	16.3072	0.82854	0.0:0.8641:0.1359:0.0	.	202;200	A8K3D2;Q9BRK0	.;REEP2_HUMAN	S	202;200;162	ENSP00000367590:P202S;ENSP00000254901:P200S;ENSP00000422530:P162S	ENSP00000254901:P200S	P	+	1	0	REEP2	137809094	0.234000	0.23783	0.035000	0.18076	0.001000	0.01503	3.232000	0.51302	0.562000	0.29204	-0.795000	0.03280	CCG		PASS	0.577	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		25	29	25	29	---	---	---	---
ZMAT2	153527	broad.mit.edu	37	5	140083567	140083567	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:140083567G>C	ENST00000274712.3	+	4	428	c.301G>C	c.(301-303)Gga>Cga	p.G101R		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	101						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G101R(1)		breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACATTAATGGAAAGAAACG	0.423																																						uc003lgy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GGA>CGA		zinc finger, matrin type 2							172.0	158.0	163.0					5																	140083567		2203	4300	6503	SO:0001583	missense	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140083567G>C	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.301G>C	5.37:g.140083567G>C	ENSP00000274712:p.Gly101Arg						p.G101R	NM_144723	NP_653324	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	315	+			101			Matrin-type.			Missense_Mutation	SNP	ENST00000274712.3	37	c.301G>C	CCDS4239.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.817960	0.90790	.	.	ENSG00000146007	ENST00000274712	.	.	.	6.03	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89364	0.3670	9	0.87932	D	0	-10.0504	15.1597	0.72775	0.0671:0.0:0.9329:0.0	.	101	Q96NC0	ZMAT2_HUMAN	R	101	.	ENSP00000274712:G101R	G	+	1	0	ZMAT2	140063751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	1.564000	0.49628	0.655000	0.94253	GGA		PASS	0.423	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		17	80	17	80	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140236732	140236732	+	Missense_Mutation	SNP	G	G	A	rs145115378	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:140236732G>A	ENST00000307360.5	+	1	1099	c.1099G>A	c.(1099-1101)Gtc>Atc	p.V367I	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V367I|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	367	Cadherin 4. {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.V367I(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGGCACCGTCATTGCCCT	0.507													.|||	2	0.000399361	0.0015	0.0	5008	,	,		19588	0.0		0.0	False		,,,				2504	0.0					uc003lhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1099-1101)GTC>ATC		protocadherin alpha 10 isoform 1 precursor		G	,ILE/VAL,,,,,,,,,,,ILE/VAL,ILE/VAL	3,4389	6.2+/-15.9	0,3,2193	160.0	141.0	148.0		,1099,,,,,,,,,,,1099,1099	4.0	0.3	5	dbSNP_134	148	0,8548		0,0,4274	yes	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,29,,,,,,,,,,,29,29	0,3,6467	AA,AG,GG		0.0,0.0683,0.0232	,,,,,,,,,,,,,	,367/949,,,,,,,,,,,367/845,367/686	140236732	3,12937	2196	4274	6470	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236732G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1099G>A	5.37:g.140236732G>A	ENSP00000304234:p.Val367Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.V367I|PCDHA10_uc011dad.1_Missense_Mutation_p.V367I	p.V367I	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1099	+			367			Cadherin 4.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1099G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489525	0.26686	6.83E-4	0.0	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51817	4.65;0.69	4.0	4.0	0.46444	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60637	0.2284	M	0.73430	2.235	0.09310	N	1	D;D;D	0.60575	0.986;0.988;0.964	P;P;B	0.56474	0.799;0.573;0.38	T	0.52102	-0.8620	9	0.51188	T	0.08	.	10.3506	0.43934	0.0913:0.0:0.9087:0.0	.	367;367;367	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	I	367	ENSP00000421030:V367I;ENSP00000304234:V367I	ENSP00000304234:V367I	V	+	1	0	PCDHA10	140216916	0.117000	0.22190	0.321000	0.25320	0.313000	0.28021	2.211000	0.42825	2.209000	0.71365	0.561000	0.74099	GTC		PASS	0.507	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		27	83	27	83	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263468	140263468	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:140263468G>T	ENST00000289272.2	+	1	1615	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D539Y|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	539	Cadherin 5. {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.D539Y(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGACTCTGGCGT	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1615-1617)GAC>TAC		protocadherin alpha 13 isoform 1 precursor							74.0	80.0	78.0					5																	140263468		2203	4299	6502	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263468G>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1615G>T	5.37:g.140263468G>T	ENSP00000289272:p.Asp539Tyr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.D539Y|PCDHA13_uc003lid.2_Missense_Mutation_p.D539Y	p.D539Y	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1615	+			539			Cadherin 5.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1615G>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483748	0.44147	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.80909	-1.43;-1.43	4.54	4.54	0.55810	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.93167	0.7824	H	0.98407	4.225	0.42263	D	0.992027	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94922	0.8074	9	0.87932	D	0	.	11.9809	0.53119	0.0868:0.0:0.9132:0.0	.	539;539;539	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	Y	539	ENSP00000386821:D539Y;ENSP00000289272:D539Y	ENSP00000289272:D539Y	D	+	1	0	PCDHA13	140243652	1.000000	0.71417	0.996000	0.52242	0.242000	0.25591	6.697000	0.74603	2.320000	0.78422	0.561000	0.74099	GAC		PASS	0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	96	5	96	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554148	140554148	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:140554148C>A	ENST00000231137.3	+	1	1906	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	578	Cadherin 6. {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.R578R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTTGCCCCGGGCGGCCGA	0.706																																						uc003lit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1732-1734)CGG>AGG		protocadherin beta 7 precursor							30.0	40.0	36.0					5																	140554148		2138	4213	6351	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554148C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1732C>A	5.37:g.140554148C>A							p.R578R	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1906	+			578			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1732C>A	CCDS4249.1																																																																																				PASS	0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		25	14	25	14	---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140762746	140762746	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:140762746G>C	ENST00000518325.1	+	1	280	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	94	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)	p.E94Q(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCGGGAAGAGATCTGCGC	0.512																																						uc003lka.1																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)GAG>CAG		protocadherin gamma subfamily A, 7 isoform 1							50.0	59.0	56.0					5																	140762746		2183	4291	6474	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762746G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.280G>C	5.37:g.140762746G>C	ENSP00000430024:p.Glu94Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.E94Q	p.E94Q	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	280	+			94			Cadherin 1.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.280G>C	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	13.22	2.171818	0.38315	.	.	ENSG00000253537	ENST00000518325	T	0.31510	1.49	4.86	4.86	0.63082	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.42743	0.1216	M	0.70903	2.155	0.21627	N	0.99962	P;P	0.40230	0.708;0.577	P;P	0.49477	0.612;0.477	T	0.29243	-1.0018	9	0.35671	T	0.21	.	9.018	0.36182	0.0829:0.1512:0.766:0.0	.	94;94	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	Q	94	ENSP00000430024:E94Q	ENSP00000430024:E94Q	E	+	1	0	PCDHGA7	140742930	0.001000	0.12720	1.000000	0.80357	0.957000	0.61999	-0.096000	0.11059	2.398000	0.81561	0.655000	0.94253	GAG		PASS	0.512	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		54	37	54	37	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140779539	140779539	+	Intron	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:140779539G>T	ENST00000576222.1	+	1	2546				PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCAGCCTGGGGCTGCGCA	0.687																																						uc003lkf.1																			0					0						c.(1843-1845)CTG>CTT		protocadherin gamma subfamily B, 5 isoform 1							26.0	31.0	29.0					5																	140779539		2089	4233	6322	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779539G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27163G>T	5.37:g.140779539G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.L615L|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	p.L615L	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1845	+			615			Cadherin 6.|Extracellular (Potential).		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1845G>T	CCDS58980.1																																																																																				PASS	0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		26	13	26	13	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141243098	141243098	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:141243098A>T	ENST00000394536.3	-	3	2937	c.2798T>A	c.(2797-2799)cTg>cAg	p.L933Q	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000287008.3_Missense_Mutation_p.L933Q|PCDH1_ENST00000456271.1_Missense_Mutation_p.L921Q|PCDH1_ENST00000536585.1_Missense_Mutation_p.L911Q	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	933					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L933Q(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGACTTCTGCAGCCCGGCCTC	0.612																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2797-2799)CTG>CAG		protocadherin 1 isoform 1 precursor							60.0	58.0	59.0					5																	141243098		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243098A>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2798T>A	5.37:g.141243098A>T	ENSP00000378043:p.Leu933Gln					PCDH1_uc003llp.2_Missense_Mutation_p.L933Q|PCDH1_uc011dbf.1_Missense_Mutation_p.L911Q	p.L933Q	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2915	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	933			Cytoplasmic (Potential).		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.2798T>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901473	0.33535	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.83	4.83	0.62350	Protocadherin (1);	0.000000	0.38436	N	0.001692	T	0.48714	0.1515	M	0.67953	2.075	0.80722	D	1	D;D	0.56035	0.974;0.968	P;P	0.62382	0.901;0.84	T	0.44003	-0.9356	10	0.39692	T	0.17	.	12.3918	0.55362	1.0:0.0:0.0:0.0	.	933;933	Q08174;Q08174-2	PCDH1_HUMAN;.	Q	933;933;921;944;911	ENSP00000287008:L933Q;ENSP00000378043:L933Q;ENSP00000403497:L921Q;ENSP00000350122:L944Q;ENSP00000438825:L911Q	ENSP00000287008:L933Q	L	-	2	0	PCDH1	141223282	0.996000	0.38824	0.995000	0.50966	0.957000	0.61999	3.423000	0.52756	2.024000	0.59613	0.375000	0.23000	CTG		PASS	0.612	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		12	11	12	11	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149583559	149583559	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:149583559C>G	ENST00000230671.2	+	10	1661	c.1290C>G	c.(1288-1290)atC>atG	p.I430M	SLC6A7_ENST00000524041.1_Missense_Mutation_p.I430M	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	430					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.I430M(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CAGGGCTCATCTGCGTGGCCA	0.577																																						uc003lrr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)ATC>ATG		solute carrier family 6, member 7	L-Proline(DB00172)						96.0	66.0	76.0					5																	149583559		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149583559C>G	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1290C>G	5.37:g.149583559C>G	ENSP00000230671:p.Ile430Met						p.I430M	NM_014228	NP_055043	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1661	+		all_hematologic(541;0.224)	430			Helical; Name=9; (Potential).		Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.1290C>G	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416583	0.62511	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76060	-0.99;-0.99	5.04	5.04	0.67666	.	0.110499	0.64402	D	0.000008	T	0.75133	0.3808	M	0.62209	1.925	0.49798	D	0.99982	B	0.26318	0.146	B	0.36766	0.232	T	0.75283	-0.3372	10	0.56958	D	0.05	.	12.7895	0.57526	0.0:0.9211:0.0:0.0789	.	430	Q99884	SC6A7_HUMAN	M	430	ENSP00000230671:I430M;ENSP00000428200:I430M	ENSP00000230671:I430M	I	+	3	3	SLC6A7	149563752	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.652000	0.37313	2.323000	0.78572	0.561000	0.74099	ATC		PASS	0.577	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		6	11	6	11	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154396080	154396080	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:154396080C>A	ENST00000435029.4	+	1	2821	c.2661C>A	c.(2659-2661)agC>agA	p.S887R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	887	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.S887R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAAAACAGCCTGAGACAGA	0.448																																						uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2659-2661)AGC>AGA		kinesin family member 4B							77.0	78.0	78.0					5																	154396080		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396080C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2661C>A	5.37:g.154396080C>A	ENSP00000387875:p.Ser887Arg						p.S887R	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2821	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	887			Interaction with PRC1 (By similarity).|Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.2661C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	5.385	0.256324	0.10185	.	.	ENSG00000226650	ENST00000435029	T	0.67698	-0.28	1.76	1.76	0.24704	.	.	.	.	.	T	0.50769	0.1635	L	0.43152	1.355	0.34288	D	0.682934	B	0.06786	0.001	B	0.09377	0.004	T	0.50039	-0.8874	9	0.06891	T	0.86	.	9.4909	0.38960	0.0:1.0:0.0:0.0	.	887	Q2VIQ3	KIF4B_HUMAN	R	887	ENSP00000387875:S887R	ENSP00000387875:S887R	S	+	3	2	KIF4B	154376273	0.801000	0.28930	0.990000	0.47175	0.959000	0.62525	0.376000	0.20535	1.285000	0.44548	0.557000	0.71058	AGC		PASS	0.448	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			55	37	55	37	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160097524	160097524	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:160097524C>G	ENST00000327245.5	-	7	1467	c.621G>C	c.(619-621)ttG>ttC	p.L207F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	207					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L207F(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCTCCATCCAAGCTGGCAG	0.443																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(619-621)TTG>TTC		ATPase, class V, type 10B							174.0	163.0	166.0					5																	160097524		1934	4159	6093	SO:0001583	missense	23120				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.chr5:160097524C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.621G>C	5.37:g.160097524C>G	ENSP00000313600:p.Leu207Phe					ATP10B_uc003lyp.2_Missense_Mutation_p.L207F|ATP10B_uc011deg.1_Missense_Mutation_p.L251F|ATP10B_uc003lyo.2_Missense_Mutation_p.L179F	p.L207F	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1468	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	207			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.621G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675501	0.67928	.	.	ENSG00000118322	ENST00000327245	D	0.94000	-3.33	5.13	3.32	0.38043	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000017	D	0.97663	0.9234	H	0.99689	4.705	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	D	0.94908	0.8062	9	.	.	.	.	2.3245	0.04219	0.2405:0.4748:0.1258:0.159	.	251;207;179;207	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	F	207	ENSP00000313600:L207F	.	L	-	3	2	ATP10B	160030102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.850000	0.27737	1.307000	0.44944	0.585000	0.79938	TTG		PASS	0.443	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		45	59	45	59	---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179668078	179668078	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:179668078G>A	ENST00000452135.2	-	9	1247	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.R317C|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000347470.4_Missense_Mutation_p.R232C|MAPK9_ENST00000455781.1_Missense_Mutation_p.R317C|MAPK9_ENST00000343111.6_Missense_Mutation_p.R317C			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.R317C(3)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATGGGTGACGCAGAGCTTCG	0.423																																						uc003mls.3																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(949-951)CGT>TGT		mitogen-activated protein kinase 9 isoform JNK2							182.0	189.0	186.0					5																	179668078		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179668078G>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.949C>T	5.37:g.179668078G>A	ENSP00000394560:p.Arg317Cys					MAPK9_uc003mlt.3_Missense_Mutation_p.R317C|MAPK9_uc010jlc.2_Missense_Mutation_p.R317C|MAPK9_uc003mlv.3_Missense_Mutation_p.R317C	p.R317C	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1220	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	317			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.949C>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408954	0.25378	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	T;T;T;T;D	0.83419	-0.2;-0.2;-0.2;-0.2;-1.72	5.22	3.4	0.38934	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122429	0.56097	D	0.000024	D	0.85279	0.5660	L	0.59967	1.855	0.80722	D	1	D;D;P;D	0.63880	0.973;0.973;0.923;0.993	P;P;P;P	0.57960	0.739;0.61;0.61;0.83	D	0.83643	0.0151	10	0.38643	T	0.18	-14.599	10.4385	0.44450	0.0708:0.0:0.797:0.1322	.	317;317;317;317	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	C	317;317;317;317;232	ENSP00000394560:R317C;ENSP00000377028:R317C;ENSP00000389338:R317C;ENSP00000345524:R317C;ENSP00000321410:R232C	ENSP00000345524:R317C	R	-	1	0	MAPK9	179600684	1.000000	0.71417	0.926000	0.36857	0.101000	0.19017	4.195000	0.58400	1.177000	0.42855	0.557000	0.71058	CGT		PASS	0.423	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			82	89	82	89	---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179745898	179745898	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr5:179745898C>G	ENST00000253778.8	-	10	1022	c.853G>C	c.(853-855)Gtg>Ctg	p.V285L	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	285	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.V285L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCATCAGCCACTGCGGCGATG	0.572																																						uc003mlw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(853-855)GTG>CTG		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						63.0	67.0	66.0					5																	179745898		2103	4226	6329	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179745898C>G	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.853G>C	5.37:g.179745898C>G	ENSP00000253778:p.Val285Leu						p.V285L	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	951	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	285			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.853G>C	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697001	0.68386	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76578	-1.03;-1.03	5.39	5.39	0.77823	Glutamine amidotransferase, type II (1);	0.111072	0.64402	D	0.000010	T	0.75384	0.3842	L	0.45285	1.41	0.58432	D	0.999997	B	0.31790	0.34	B	0.37346	0.247	T	0.71137	-0.4680	9	.	.	.	-12.0669	19.1516	0.93491	0.0:1.0:0.0:0.0	.	285	O94808	GFPT2_HUMAN	L	285;187	ENSP00000253778:V285L;ENSP00000431125:V187L	.	V	-	1	0	GFPT2	179678504	1.000000	0.71417	0.970000	0.41538	0.532000	0.34746	7.711000	0.84669	2.545000	0.85829	0.555000	0.69702	GTG		PASS	0.572	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		3	22	3	22	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	486758	486758	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:486758C>A	ENST00000230449.4	-	28	2823	c.2688G>T	c.(2686-2688)ctG>ctT	p.L896L	EXOC2_ENST00000448181.3_Silent_p.L491L	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	896					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L896L(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGAGCTCTTCCAGTAACCTGC	0.517																																						uc003mtd.2																			2	Substitution - coding silent(2)		lung(2)	breast(4)|ovary(2)|pancreas(1)	7						c.(2686-2688)CTG>CTT		Sec5 protein							132.0	123.0	126.0					6																	486758		2203	4300	6503	SO:0001819	synonymous_variant	55770				exocytosis|protein transport			g.chr6:486758C>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2688G>T	6.37:g.486758C>A						EXOC2_uc003mte.2_Silent_p.L896L|EXOC2_uc011dho.1_Silent_p.L491L	p.L896L	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	28	2822	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	896					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	c.2688G>T	CCDS34327.1																																																																																				PASS	0.517	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		5	59	5	59	---	---	---	---
HIST1H4E	8367	broad.mit.edu	37	6	26205085	26205085	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:26205085G>A	ENST00000360441.4	+	1	228	c.213G>A	c.(211-213)gtG>gtA	p.V71V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	71				V -> A (in Ref. 14; AAH67496). {ECO:0000305}.	CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V71V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GTGATGCTGTGACTTACACGG	0.552																																						uc003ngy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(211-213)GTG>GTA		histone cluster 1, H4e							144.0	126.0	132.0					6																	26205085		2203	4300	6503	SO:0001819	synonymous_variant	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205085G>A	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.213G>A	6.37:g.26205085G>A							p.V71V	NM_003545	NP_003536	P62805	H4_HUMAN			1	213	+		all_hematologic(11;0.196)	71	V -> A (in Ref. 14; AAH67496).				A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	37	c.213G>A	CCDS4593.1																																																																																				PASS	0.552	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		12	59	12	59	---	---	---	---
C6orf15	29113	broad.mit.edu	37	6	31079766	31079766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:31079766C>A	ENST00000259870.3	-	2	373	c.370G>T	c.(370-372)Gag>Tag	p.E124*	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	124					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E124*(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						AGGCGGTCCTCAGCCGCAGCA	0.652																																						uc003nsk.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(370-372)GAG>TAG		STG protein precursor							32.0	34.0	33.0					6																	31079766		2167	4212	6379	SO:0001587	stop_gained	29113							g.chr6:31079766C>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.370G>T	6.37:g.31079766C>A	ENSP00000259870:p.Glu124*					PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	p.E124*	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	370	-			124					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Nonsense_Mutation	SNP	ENST00000259870.3	37	c.370G>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826569	0.71143	.	.	ENSG00000204542	ENST00000259870	.	.	.	5.03	5.03	0.67393	.	0.366091	0.23459	N	0.047952	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.6835	13.7156	0.62693	0.0:1.0:0.0:0.0	.	.	.	.	X	124	.	ENSP00000259870:E124X	E	-	1	0	C6orf15	31187745	0.523000	0.26274	0.229000	0.23960	0.004000	0.04260	1.626000	0.37039	2.601000	0.87937	0.579000	0.79373	GAG		PASS	0.652	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		6	23	6	23	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31599382	31599382	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:31599382C>A	ENST00000376033.2	+	16	3166	c.2932C>A	c.(2932-2934)Ccc>Acc	p.P978T	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P978T	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	978	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P978T(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACCCCCAAACCCCCAAAGCC	0.597																																						uc003nvb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2932-2934)CCC>ACC		HLA-B associated transcript-2							16.0	19.0	18.0					6																	31599382		1500	2701	4201	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599382C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2932C>A	6.37:g.31599382C>A	ENSP00000365201:p.Pro978Thr					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P978T	p.P978T	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	3181	+			978			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2932C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.986503	0.00046	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01745	4.66;4.66	5.19	1.42	0.22433	.	2.124390	0.02002	N	0.046328	T	0.00496	0.0016	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48658	-0.9016	10	0.87932	D	0	6.4397	3.8337	0.08885	0.1388:0.3596:0.3784:0.1233	.	978	P48634	PRC2A_HUMAN	T	978;967;978;978;203	ENSP00000365175:P978T;ENSP00000365201:P978T	ENSP00000365175:P978T	P	+	1	0	PRRC2A	31707361	0.005000	0.15991	0.024000	0.17045	0.308000	0.27856	0.334000	0.19787	-0.108000	0.12066	-0.763000	0.03452	CCC		PASS	0.597	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		3	18	3	18	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38854588	38854589	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:38854588_38854589CA>AG	ENST00000359357.3	+	55	7884_7885	c.7630_7631CA>AG	c.(7630-7632)CAg>AGg	p.Q2544R	DNAH8_ENST00000449981.2_Missense_Mutation_p.Q2761R|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q2508R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2544	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q2544R(4)|p.Q2544K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATTGTGCGACAGATGATGGAA	0.376																																						uc003ooe.1																			6	Substitution - Missense(6)		lung(6)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(7630-7632)CAG>AAG|c.(7630-7632)CAG>CGG		dynein, axonemal, heavy polypeptide 8																																				SO:0001583	missense	1769							g.chr6:38854588C>A|g.chr6:38854589A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	Exception_encountered	6.37:g.38854588_38854589delinsAG	ENSP00000352312:p.Gln2544Arg						p.Q2544K|p.Q2544R	NM_001371	NP_001362					55	8230|8231	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7630C>A|c.7631A>G																																																																																					PASS	0.376	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	57	11	57	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47649184	47649184	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:47649184A>G	ENST00000296862.1	+	6	889	c.889A>G	c.(889-891)Ata>Gta	p.I297V	GPR111_ENST00000507065.1_Missense_Mutation_p.I229V|GPR111_ENST00000398742.2_Missense_Mutation_p.I229V			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	297					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I229V(1)|p.I297V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGGCACCACCATATCTGGAGA	0.373																																						uc010jzj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(889-891)ATA>GTA		G-protein coupled receptor 111							122.0	114.0	116.0					6																	47649184		1874	4109	5983	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649184A>G	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.889A>G	6.37:g.47649184A>G	ENSP00000296862:p.Ile297Val					GPR111_uc010jzk.1_Missense_Mutation_p.I229V|GPR111_uc003oyy.2_RNA	p.I297V	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	890	+			297			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.889A>G		.	.	.	.	.	.	.	.	.	.	A	5.313	0.243117	0.10077	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.38240	1.92;1.88;1.15	5.43	-10.9	0.00192	.	0.461581	0.21967	N	0.066508	T	0.05456	0.0144	N	0.25957	0.775	0.09310	N	1	B;B	0.19200	0.031;0.034	B;B	0.22152	0.034;0.038	T	0.16512	-1.0400	10	0.21540	T	0.41	.	8.2552	0.31751	0.2978:0.3938:0.3083:0.0	.	229;297	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	V	229;297;229	ENSP00000422934:I229V;ENSP00000296862:I297V;ENSP00000381727:I229V	ENSP00000296862:I297V	I	+	1	0	GPR111	47757143	0.000000	0.05858	0.000000	0.03702	0.890000	0.51754	-0.026000	0.12392	-2.024000	0.00936	-1.140000	0.01884	ATA		PASS	0.373	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		29	65	29	65	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47847514	47847514	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:47847514T>A	ENST00000339488.4	-	3	1099	c.1066A>T	c.(1066-1068)Agc>Tgc	p.S356C		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	356	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.S356C(1)									GTGAATGGGCTGGCACCCATG	0.453																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1015-1017)AGC>TGC		hypothetical protein LOC442213							72.0	72.0	72.0					6																	47847514		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847514T>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1066A>T	6.37:g.47847514T>A	ENSP00000341914:p.Ser356Cys					C6orf138_uc011dwn.1_Missense_Mutation_p.S103C	p.S339C	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1100	-			356			Helical; (Potential).|SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1015A>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218035	0.58560	.	.	ENSG00000244694	ENST00000339488	D	0.92911	-3.13	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.93900	0.8048	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94133	0.7390	10	0.51188	T	0.08	.	15.4732	0.75456	0.0:0.0:0.0:1.0	.	356	Q6ZW05	CF138_HUMAN	C	356	ENSP00000341914:S356C	ENSP00000341914:S356C	S	-	1	0	C6orf138	47955473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.067000	0.61834	0.528000	0.53228	AGC		PASS	0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		12	32	12	32	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51612743	51612743	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:51612743G>T	ENST00000371117.3	-	58	9946	c.9671C>A	c.(9670-9672)gCc>gAc	p.A3224D	PKHD1_ENST00000340994.4_Missense_Mutation_p.A3224D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3224					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.A3224D(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)					TGTCAAGTTGGCTGAGTGCGG	0.468																																						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.(9670-9672)GCC>GAC		fibrocystin isoform 1							116.0	113.0	114.0					6																	51612743		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.chr6:51612743G>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.9671C>A	6.37:g.51612743G>T	ENSP00000360158:p.Ala3224Asp					PKHD1_uc010jzn.1_Missense_Mutation_p.A1207D|PKHD1_uc003pai.2_Missense_Mutation_p.A3224D	p.A3224D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	9947	-	Lung NSC(77;0.0605)		3224			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9671C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740983	0.69304	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88201	-2.16;-2.35	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	M	0.74881	2.28	0.45439	D	0.99841	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.986;0.997	D	0.93599	0.6928	10	0.62326	D	0.03	.	18.9315	0.92568	0.0:0.0:1.0:0.0	.	3224;3224;3224	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	D	3224	ENSP00000360158:A3224D;ENSP00000341097:A3224D	ENSP00000341097:A3224D	A	-	2	0	PKHD1	51720702	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	4.623000	0.61247	2.716000	0.92895	0.655000	0.94253	GCC		PASS	0.468	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	67	27	67	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70065752	70065752	+	Splice_Site	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:70065752G>C	ENST00000370598.1	+	28	4416	c.3595G>C	c.(3595-3597)Gtt>Ctt	p.V1199L	BAI3_ENST00000238918.8_Splice_Site_p.V405L|BAI3_ENST00000546190.1_Splice_Site_p.V163L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1199					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.V1199L(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)				CTGTCGATCAGGTAAGAATAT	0.289																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3595-3597)GTT>CTT		brain-specific angiogenesis inhibitor 3							110.0	121.0	117.0					6																	70065752		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70065752G>C	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.3595+1G>C	6.37:g.70065752G>C						BAI3_uc010kak.2_Missense_Mutation_p.V1199L|BAI3_uc011dxx.1_Missense_Mutation_p.V405L	p.V1199L	NM_001704	NP_001695	O60242	BAI3_HUMAN			28	4043	+		all_lung(197;0.212)	1199			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3595G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808302	0.70797	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.50813	1.92;2.53;0.73	5.56	5.56	0.83823	.	0.116668	0.64402	D	0.000020	T	0.36276	0.0961	L	0.52011	1.625	0.53005	D	0.999961	B;B	0.22800	0.063;0.075	B;B	0.22386	0.039;0.027	T	0.23976	-1.0173	10	0.72032	D	0.01	.	19.8965	0.96963	0.0:0.0:1.0:0.0	.	405;1199	B7Z356;O60242	.;BAI3_HUMAN	L	1199;405;163	ENSP00000359630:V1199L;ENSP00000238918:V405L;ENSP00000441821:V163L	ENSP00000238918:V405L	V	+	1	0	BAI3	70122473	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.173000	0.94815	2.771000	0.95319	0.563000	0.77884	GTT		PASS	0.289	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Missense_Mutation	11	32	11	32	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446511	85446511	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:85446511C>A	ENST00000369663.5	-	8	2053	c.1716G>T	c.(1714-1716)gtG>gtT	p.V572V	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	572					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.V572V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCACTCCTTCCACAGGGGGCA	0.512																																						uc003pkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1714-1716)GTG>GTT		T-box 18							53.0	55.0	55.0					6																	85446511		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446511C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1716G>T	6.37:g.85446511C>A						TBX18_uc010kbq.1_Intron	p.V572V	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1716	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	572					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1716G>T	CCDS34495.1																																																																																				PASS	0.512	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		4	25	4	25	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86324913	86324913	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:86324913C>T	ENST00000369622.3	-	11	1933	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V14M|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R478H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	478	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R478H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATATCCACCACGATAGTTATG	0.428																																						uc003pla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1432-1434)CGT>CAT		synaptotagmin binding, cytoplasmic RNA							38.0	36.0	37.0					6																	86324913		2203	4294	6497	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324913C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1433G>A	6.37:g.86324913C>T	ENSP00000358635:p.Arg478His					SYNCRIP_uc003pku.2_Missense_Mutation_p.R478H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R443H|SYNCRIP_uc003pky.2_Missense_Mutation_p.R380H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R478H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R326H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R443H	p.R478H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1974	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	478			Interaction with APOBEC1.|3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|1-3.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1433G>A	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672393	0.47781	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.33216	1.42;1.43	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.995;0.997;0.999;0.999;0.998	D;D;D;D;D;D;D	0.74674	0.964;0.984;0.964;0.984;0.984;0.984;0.964	T	0.34725	-0.9817	10	0.15066	T	0.55	.	19.177	0.93605	0.0:1.0:0.0:0.0	.	478;443;380;326;443;478;478	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	H	478	ENSP00000347380:R478H;ENSP00000358635:R478H	ENSP00000347380:R478H	R	-	2	0	SYNCRIP	86381632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.528000	0.85240	0.563000	0.77884	CGT		PASS	0.428	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		8	17	8	17	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97533046	97533046	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:97533046C>T	ENST00000369261.4	+	6	819	c.456C>T	c.(454-456)gaC>gaT	p.D152D	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Silent_p.D116D|KLHL32_ENST00000539200.1_Silent_p.D83D	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	152								p.D152D(2)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GACTTGCTGACCTCTTTAACC	0.383																																						uc010kcm.1																			2	Substitution - coding silent(2)	p.D152D(1)	ovary(1)|lung(1)	ovary(3)|skin(1)	4						c.(454-456)GAC>GAT		kelch-like 32							122.0	120.0	121.0					6																	97533046		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97533046C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.456C>T	6.37:g.97533046C>T						KLHL32_uc003poy.2_Silent_p.D152D|KLHL32_uc011ead.1_Silent_p.D116D|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.D83D|KLHL32_uc003ppa.2_RNA	p.D152D	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	6	928	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	152					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.456C>T	CCDS5038.1																																																																																				PASS	0.383	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		13	22	13	22	---	---	---	---
USP45	85015	broad.mit.edu	37	6	99951668	99951668	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:99951668G>T	ENST00000327681.6	-	5	983	c.451C>A	c.(451-453)Cag>Aag	p.Q151K	USP45_ENST00000369231.3_Missense_Mutation_p.Q151K|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.Q151K|USP45_ENST00000329966.6_Missense_Mutation_p.Q151K|USP45_ENST00000472914.2_Missense_Mutation_p.Q151K|USP45_ENST00000369233.2_Missense_Mutation_p.Q151K|USP45_ENST00000392738.2_5'UTR	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	151					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.Q151K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GCATGTTTCTGGAGAAAATCA	0.279																																						uc003ppx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(451-453)CAG>AAG		ubiquitin specific peptidase 45							87.0	90.0	89.0					6																	99951668		2202	4295	6497	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99951668G>T	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.451C>A	6.37:g.99951668G>T	ENSP00000333376:p.Gln151Lys					USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.Q151K|USP45_uc003ppz.2_Missense_Mutation_p.Q151K|USP45_uc003pqa.2_Missense_Mutation_p.Q151K	p.Q151K	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	5	984	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	151					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.451C>A	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219748	0.58560	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914;ENST00000369231	T;T;T;T;T;T	0.18657	3.83;3.83;3.84;2.33;2.33;2.2	5.32	5.32	0.75619	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.81914	0.718;0.995	T	0.04400	-1.0954	10	0.19590	T	0.45	.	19.0069	0.92854	0.0:0.0:1.0:0.0	.	151;151	D6RBV3;Q70EL2	.;UBP45_HUMAN	K	151	ENSP00000424372:Q151K;ENSP00000333376:Q151K;ENSP00000358236:Q151K;ENSP00000330540:Q151K;ENSP00000423993:Q151K;ENSP00000358234:Q151K	ENSP00000333376:Q151K	Q	-	1	0	USP45	100058389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.493000	0.84123	0.563000	0.77884	CAG		PASS	0.279	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		5	51	5	51	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100895257	100895257	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:100895257G>T	ENST00000369208.3	-	9	1667	c.885C>A	c.(883-885)taC>taA	p.Y295*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.Y295*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	295	PAC.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Y295*(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGAACCTGTAGTACTTGG	0.597																																						uc003pqj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(883-885)TAC>TAA		single-minded homolog 1							140.0	107.0	118.0					6																	100895257		2203	4300	6503	SO:0001587	stop_gained	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100895257G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.885C>A	6.37:g.100895257G>T	ENSP00000358210:p.Tyr295*					SIM1_uc010kcu.2_Nonsense_Mutation_p.Y295*	p.Y295*	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	8	1092	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	295			PAC.		Q5TDP7	Nonsense_Mutation	SNP	ENST00000369208.3	37	c.885C>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	46	12.420836	0.99666	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7135	0.69251	0.0687:0.0:0.9313:0.0	.	.	.	.	X	295	.	ENSP00000262901:Y295X	Y	-	3	2	SIM1	101001978	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.798000	0.75155	2.865000	0.98341	0.655000	0.94253	TAC		PASS	0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		14	19	14	19	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130454629	130454629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:130454629C>T	ENST00000529410.1	+	23	2478	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*	RP11-73O6.3_ENST00000609978.1_RNA|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.Q667*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.Q667*|L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.Q642*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.Q642*|L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.Q642*|RP11-73O6.3_ENST00000591297.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	667					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q667*(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CCAGCAGGCACAGCGTCGGTC	0.527																																						uc003qbt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1999-2001)CAG>TAG		l(3)mbt-like 3 isoform a							101.0	85.0	91.0					6																	130454629		2203	4300	6503	SO:0001587	stop_gained	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130454629C>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1999C>T	6.37:g.130454629C>T	ENSP00000431962:p.Gln667*					L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.Q642*	p.Q667*	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	21	2169	+			667					Q4VXE1|Q5VUM9|Q6P9B5	Nonsense_Mutation	SNP	ENST00000529410.1	37	c.1999C>T	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	40	8.087204	0.98646	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	.	.	.	5.31	5.31	0.75309	.	0.619667	0.16731	N	0.201831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.6617	0.56817	0.0:0.924:0.0:0.076	.	.	.	.	X	667;642;667;642;642;667	.	ENSP00000354526:Q667X	Q	+	1	0	L3MBTL3	130496322	0.998000	0.40836	0.997000	0.53966	0.893000	0.52053	3.584000	0.53936	2.632000	0.89209	0.561000	0.74099	CAG		PASS	0.527	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		11	20	11	20	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130454633	130454633	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:130454633G>T	ENST00000529410.1	+	23	2482	c.2003G>T	c.(2002-2004)cGt>cTt	p.R668L	RP11-73O6.3_ENST00000609978.1_RNA|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R668L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R668L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R643L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R643L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R643L|RP11-73O6.3_ENST00000591297.1_RNA|RP11-73O6.3_ENST00000415964.1_RNA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	668					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R668L(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGGCACAGCGTCGGTCAGCT	0.532																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2002-2004)CGT>CTT		l(3)mbt-like 3 isoform a							102.0	86.0	91.0					6																	130454633		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130454633G>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.2003G>T	6.37:g.130454633G>T	ENSP00000431962:p.Arg668Leu					L3MBTL3_uc003qbu.2_Missense_Mutation_p.R643L	p.R668L	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	21	2173	+			668					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.2003G>T	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822214	0.50739	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.13901	2.55;2.56;2.55;2.56;2.56;2.55	5.31	5.31	0.75309	.	0.342667	0.29431	N	0.012169	T	0.05318	0.0141	L	0.44542	1.39	0.32624	N	0.522897	P;B	0.37176	0.586;0.0	B;B	0.37480	0.251;0.003	T	0.27673	-1.0067	10	0.27785	T	0.31	.	8.6712	0.34152	0.0836:0.2014:0.7151:0.0	.	643;668	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	L	668;643;668;643;643;668	ENSP00000431962:R668L;ENSP00000437185:R643L;ENSP00000354526:R668L;ENSP00000357121:R643L;ENSP00000436706:R643L;ENSP00000357118:R668L	ENSP00000354526:R668L	R	+	2	0	L3MBTL3	130496326	1.000000	0.71417	0.971000	0.41717	0.897000	0.52465	4.542000	0.60677	2.632000	0.89209	0.561000	0.74099	CGT		PASS	0.532	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		12	19	12	19	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130505658	130505658	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:130505658C>A	ENST00000368134.2	-	8	1102	c.494G>T	c.(493-495)tGc>tTc	p.C165F	SAMD3_ENST00000324172.6_Missense_Mutation_p.C165F|SAMD3_ENST00000437477.2_Missense_Mutation_p.C165F|SAMD3_ENST00000457563.2_Missense_Mutation_p.C189F|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000532763.1_Missense_Mutation_p.C163F|SAMD3_ENST00000439090.2_Missense_Mutation_p.C165F	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	165								p.C165F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTGATCCGGGCACTTCTGCTC	0.448																																						uc003qbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)TGC>TTC		sterile alpha motif domain containing 3 isoform							131.0	113.0	120.0					6																	130505658		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130505658C>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.494G>T	6.37:g.130505658C>A	ENSP00000357116:p.Cys165Phe					SAMD3_uc003qbx.2_Missense_Mutation_p.C165F|SAMD3_uc003qbw.2_Missense_Mutation_p.C165F|SAMD3_uc010kfg.1_Missense_Mutation_p.C165F|SAMD3_uc003qby.2_Missense_Mutation_p.C165F|SAMD3_uc003qbz.1_Missense_Mutation_p.C124F	p.C165F	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	820	-			165					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.494G>T	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475259	0.26511	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.46451	1.02;1.01;1.02;1.02;0.95;0.9;0.91;0.87;0.9	5.67	5.67	0.87782	.	0.226105	0.40908	D	0.000993	T	0.38852	0.1056	M	0.63428	1.95	0.31950	N	0.609832	P;D;B;P	0.60575	0.679;0.988;0.4;0.79	B;P;B;B	0.51974	0.312;0.686;0.252;0.362	T	0.36040	-0.9764	10	0.36615	T	0.2	.	13.2802	0.60210	0.0:0.9244:0.0:0.0756	.	189;164;165;165	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	F	165;189;165;165;163;165;164;165;162	ENSP00000357116:C165F;ENSP00000402092:C189F;ENSP00000403565:C165F;ENSP00000391163:C165F;ENSP00000436088:C163F;ENSP00000324874:C165F;ENSP00000436115:C164F;ENSP00000435875:C165F;ENSP00000434139:C162F	ENSP00000324874:C165F	C	-	2	0	SAMD3	130547351	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	3.495000	0.53280	2.662000	0.90505	0.655000	0.94253	TGC		PASS	0.448	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		11	17	11	17	---	---	---	---
ZBTB2	57621	broad.mit.edu	37	6	151687860	151687860	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:151687860G>C	ENST00000325144.4	-	3	481	c.341C>G	c.(340-342)gCc>gGc	p.A114G		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	114					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.A114G(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TCCCTGGCTGGCGAGGCTGGC	0.532																																						uc003qoh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(340-342)GCC>GGC		zinc finger and BTB domain containing 2							98.0	88.0	91.0					6																	151687860		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687860G>C	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.341C>G	6.37:g.151687860G>C	ENSP00000323183:p.Ala114Gly						p.A114G	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	476	-			114					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.341C>G	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112529	0.56398	.	.	ENSG00000181472	ENST00000325144	T	0.05258	3.47	5.91	5.91	0.95273	BTB/POZ-like (1);	0.098291	0.64402	D	0.000001	T	0.03434	0.0099	N	0.22421	0.69	0.58432	D	0.999999	P	0.37914	0.611	B	0.37731	0.257	T	0.54662	-0.8260	10	0.36615	T	0.2	-37.2775	20.2985	0.98592	0.0:0.0:1.0:0.0	.	114	Q8N680	ZBTB2_HUMAN	G	114	ENSP00000323183:A114G	ENSP00000323183:A114G	A	-	2	0	ZBTB2	151729553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GCC		PASS	0.532	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		13	39	13	39	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152804220	152804220	+	Splice_Site	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:152804220C>A	ENST00000367255.5	-	14	1951	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	SYNE1_ENST00000448038.1_Splice_Site_p.K457N|SYNE1_ENST00000367248.3_Splice_Site_p.K440N|SYNE1_ENST00000341594.5_Splice_Site_p.K450N|SYNE1_ENST00000367253.4_Splice_Site_p.K450N|SYNE1_ENST00000423061.1_Splice_Site_p.K457N|SYNE1_ENST00000413186.2_Splice_Site_p.K450N|SYNE1_ENST00000466159.2_Splice_Site_p.K450N|SYNE1_ENST00000265368.4_Splice_Site_p.K450N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	450					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.K450N(2)|p.K457N(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)		GAATTTTTACCTTATGTTGCT	0.502										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.(1348-1350)AAG>AAT		spectrin repeat containing, nuclear envelope 1							340.0	337.0	338.0					6																	152804220		2203	4300	6503	SO:0001630	splice_region_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.chr6:152804220C>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.1350+1G>T	6.37:g.152804220C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.K457N|SYNE1_uc003qou.3_Missense_Mutation_p.K450N|SYNE1_uc010kjb.1_Missense_Mutation_p.K433N|SYNE1_uc003qpa.1_Missense_Mutation_p.K450N|SYNE1_uc003qox.1_Translation_Start_Site	p.K450N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	14	1952	-		Ovarian(120;0.0955)	450			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.1350G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.108285	0.94292	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.93366	-0.23;-0.22;-0.32;-0.23;0.24;-2.72;-3.04;-2.85;-3.03;-3.21	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000016	D	0.96673	0.8914	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;0.999;1.0	D;D;D;D;D	0.72338	0.975;0.948;0.957;0.948;0.977	D	0.95409	0.8496	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	433;450;450;450;457	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	N	450;457;450;457;450;450;440;450;450;433	ENSP00000356224:K450N;ENSP00000396024:K457N;ENSP00000265368:K450N;ENSP00000390975:K457N;ENSP00000341887:K450N;ENSP00000356222:K450N;ENSP00000356217:K440N;ENSP00000414510:K450N;ENSP00000446021:K450N;ENSP00000441264:K433N	.	K	-	3	2	SYNE1	152845913	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	AAG		PASS	0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation	7	187	7	187	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155761124	155761124	+	Missense_Mutation	SNP	C	C	G	rs143056669	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:155761124C>G	ENST00000159060.2	-	6	736	c.634G>C	c.(634-636)Gtc>Ctc	p.V212L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	212	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.V212L(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGAAAGAAGACGATGAAAACA	0.468																																						uc003qqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(634-636)GTC>CTC		NADPH oxidase 3							138.0	125.0	130.0					6																	155761124		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761124C>G	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.634G>C	6.37:g.155761124C>G	ENSP00000159060:p.Val212Leu						p.V212L	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	737	-		Breast(66;0.0183)	212			Ferric oxidoreductase.|Helical; (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.634G>C	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441964	0.25900	.	.	ENSG00000074771	ENST00000159060	D	0.91068	-2.78	5.83	-3.04	0.05412	Flavoprotein transmembrane component (1);	0.387575	0.25058	N	0.033469	T	0.68238	0.2979	N	0.25144	0.715	0.27067	N	0.963425	B	0.19445	0.036	B	0.28553	0.091	T	0.62120	-0.6921	10	0.46703	T	0.11	-9.4752	7.8729	0.29576	0.1065:0.4154:0.0:0.4782	.	212	Q9HBY0	NOX3_HUMAN	L	212	ENSP00000159060:V212L	ENSP00000159060:V212L	V	-	1	0	NOX3	155802816	0.493000	0.26035	0.787000	0.31911	0.120000	0.20174	-0.322000	0.08007	-0.793000	0.04475	-1.131000	0.01979	GTC		PASS	0.468	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			19	24	19	24	---	---	---	---
SLC22A2	6582	broad.mit.edu	37	6	160670411	160670411	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:160670411C>T	ENST00000366953.3	-	4	937	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.E206K	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	227					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.E227K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CCAACAAATTCTGTAACTGCA	0.433																																						uc003qtf.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(679-681)GAA>AAA		solute carrier family 22 member 2							103.0	97.0	99.0					6																	160670411		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160670411C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.679G>A	6.37:g.160670411C>T	ENSP00000355920:p.Glu227Lys					SLC22A2_uc003qte.1_Missense_Mutation_p.E227K|SLC22A2_uc003qth.1_3'UTR	p.E227K	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	4	849	-		Breast(66;0.000776)|Ovarian(120;0.0303)	227			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.679G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674301	0.96764	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	D;D	0.85955	-2.05;-2.05	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97582	1.0111	10	0.87932	D	0	.	19.1694	0.93570	0.0:1.0:0.0:0.0	.	227;227	O15244;O15244-2	S22A2_HUMAN;.	K	227;206	ENSP00000355920:E227K;ENSP00000355919:E206K	ENSP00000355919:E206K	E	-	1	0	SLC22A2	160590401	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.126000	0.77201	2.765000	0.95021	0.655000	0.94253	GAA		PASS	0.433	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		14	64	14	64	---	---	---	---
CCR6	1235	broad.mit.edu	37	6	167550498	167550498	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr6:167550498G>T	ENST00000341935.5	+	3	1332	c.780G>T	c.(778-780)gtG>gtT	p.V260V	CCR6_ENST00000400926.2_Silent_p.V260V|CCR6_ENST00000349984.4_Silent_p.V260V|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	260					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.V260V(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TAGCTGTGGTGCTTGTGTTTC	0.428																																						uc003qvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(778-780)GTG>GTT		chemokine (C-C motif) receptor 6							157.0	155.0	156.0					6																	167550498		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550498G>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.780G>T	6.37:g.167550498G>T						CCR6_uc010kkm.2_Silent_p.V260V|CCR6_uc003qvn.3_Silent_p.V260V|CCR6_uc003qvm.3_Silent_p.V260V	p.V260V	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	13	3256	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	260			Helical; Name=6; (Potential).		E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.780G>T	CCDS5298.1																																																																																				PASS	0.428	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			34	20	34	20	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2968256	2968256	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:2968256T>A	ENST00000396946.4	-	13	2133	c.1730A>T	c.(1729-1731)tAc>tTc	p.Y577F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	577					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.Y570F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTCCTCCTTGTAGCGTCTGAC	0.652			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(1729-1731)TAC>TTC		caspase recruitment domain family, member 11							86.0	74.0	78.0					7																	2968256		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968256T>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1730A>T	7.37:g.2968256T>A	ENSP00000380150:p.Tyr577Phe						p.Y577F	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2134	-		Ovarian(82;0.0115)	577					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1730A>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	t	3.931	-0.016235	0.07681	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.43294	0.95;0.95	4.96	-0.087	0.13679	.	0.792187	0.11861	N	0.522375	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	10	0.10377	T	0.69	-1.1551	8.2663	0.31815	0.0:0.6671:0.1652:0.1677	.	577	Q9BXL7	CAR11_HUMAN	F	577;48	ENSP00000380150:Y577F;ENSP00000347695:Y48F	ENSP00000347695:Y48F	Y	-	2	0	CARD11	2934782	0.361000	0.24972	0.480000	0.27341	0.940000	0.58332	0.100000	0.15231	0.014000	0.14944	0.454000	0.30748	TAC		PASS	0.652	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		7	58	7	58	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7398270	7398270	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:7398270T>A	ENST00000399429.3	-	35	3512	c.3372A>T	c.(3370-3372)caA>caT	p.Q1124H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1124					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q1124H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGCTCATCCTTGAATGCAGG	0.388																																						uc003src.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(3370-3372)CAA>CAT		collagen, type XXVIII precursor							180.0	165.0	169.0					7																	7398270		1902	4138	6040	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7398270T>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3372A>T	7.37:g.7398270T>A	ENSP00000382356:p.Gln1124His					COL28A1_uc011jxe.1_Missense_Mutation_p.Q807H	p.Q1124H	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	35	3489	-		Ovarian(82;0.0789)	1124					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.3372A>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.545214	0.27652	.	.	ENSG00000215018	ENST00000453441;ENST00000399429	T;D	0.88896	-0.09;-2.44	4.7	0.988	0.19796	.	1.750910	0.03690	U	0.246873	D	0.82724	0.5099	L	0.31294	0.92	0.09310	N	0.999999	B	0.16802	0.019	B	0.11329	0.006	T	0.69003	-0.5260	10	0.72032	D	0.01	-3.0244	5.2155	0.15340	0.0:0.2505:0.1455:0.604	.	1124	Q2UY09	COSA1_HUMAN	H	79;1124	ENSP00000391380:Q79H;ENSP00000382356:Q1124H	ENSP00000382356:Q1124H	Q	-	3	2	COL28A1	7364795	0.000000	0.05858	0.358000	0.25811	0.684000	0.39900	0.017000	0.13399	0.381000	0.24851	0.454000	0.30748	CAA		PASS	0.388	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		30	58	30	58	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15584478	15584478	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:15584478G>C	ENST00000342526.3	-	3	497	c.328C>G	c.(328-330)Cct>Gct	p.P110A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	110					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.P110A(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GAATCCCAAGGCAAATTGAAC	0.408																																						uc003stb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)CCT>GCT		transmembrane protein 195							112.0	109.0	110.0					7																	15584478		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15584478G>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.328C>G	7.37:g.15584478G>C	ENSP00000341662:p.Pro110Ala						p.P110A	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			3	498	-			110					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.328C>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864006	0.71949	.	.	ENSG00000187546	ENST00000342526	T	0.34472	1.36	5.77	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	M	0.65677	2.01	0.54753	D	0.999989	P	0.43314	0.803	P	0.47162	0.54	T	0.39781	-0.9597	10	0.38643	T	0.18	-8.6026	13.9595	0.64170	0.0727:0.0:0.9273:0.0	.	110	Q6ZNB7	ALKMO_HUMAN	A	110	ENSP00000341662:P110A	ENSP00000341662:P110A	P	-	1	0	AGMO	15551003	1.000000	0.71417	0.980000	0.43619	0.865000	0.49528	9.044000	0.93805	1.469000	0.48083	0.650000	0.86243	CCT		PASS	0.408	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		34	75	34	75	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20198760	20198760	+	Silent	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:20198760A>G	ENST00000400331.5	-	5	1532	c.1224T>C	c.(1222-1224)ggT>ggC	p.G408G	MACC1_ENST00000589011.1_Silent_p.G408G|MACC1_ENST00000332878.4_Silent_p.G408G	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	408					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G408G(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGTTTTTTCCACCCTTCTTAA	0.363																																						uc003sus.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1222-1224)GGT>GGC		putative binding protein 7a5							49.0	48.0	48.0					7																	20198760		2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198760A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1224T>C	7.37:g.20198760A>G						MACC1_uc010kug.2_Silent_p.G408G	p.G408G	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	1533	-			408					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.1224T>C	CCDS5369.1																																																																																				PASS	0.363	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		6	22	6	22	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20199112	20199112	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:20199112T>C	ENST00000400331.5	-	5	1180	c.872A>G	c.(871-873)aAa>aGa	p.K291R	MACC1_ENST00000589011.1_Missense_Mutation_p.K291R|MACC1_ENST00000332878.4_Missense_Mutation_p.K291R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	291					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K291R(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGCCCCAATTTTCATCTCCAG	0.433																																						uc003sus.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(871-873)AAA>AGA		putative binding protein 7a5							64.0	60.0	62.0					7																	20199112		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199112T>C		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.872A>G	7.37:g.20199112T>C	ENSP00000383185:p.Lys291Arg					MACC1_uc010kug.2_Missense_Mutation_p.K291R	p.K291R	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	1181	-			291					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.872A>G	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830706	0.50845	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.13901	2.55;2.55	5.47	4.31	0.51392	.	0.132517	0.64402	N	0.000002	T	0.14570	0.0352	L	0.56199	1.76	0.45554	D	0.998502	B	0.25390	0.125	B	0.22753	0.041	T	0.02617	-1.1133	10	0.42905	T	0.14	-18.6307	11.1606	0.48514	0.0:0.0722:0.0:0.9278	.	291	Q6ZN28	MACC1_HUMAN	R	291	ENSP00000383185:K291R;ENSP00000328410:K291R	ENSP00000328410:K291R	K	-	2	0	MACC1	20165637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.233000	0.58651	0.911000	0.36747	0.477000	0.44152	AAA		PASS	0.433	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		8	27	8	27	---	---	---	---
NPVF	64111	broad.mit.edu	37	7	25266476	25266476	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:25266476C>G	ENST00000222674.2	-	2	354	c.308G>C	c.(307-309)gGa>gCa	p.G103A		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	103					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.G103A(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGCTGTTGCTCCAGCACTTCT	0.473																																						uc003sxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(307-309)GGA>GCA		neuropeptide VF precursor							175.0	170.0	172.0					7																	25266476		2203	4300	6503	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25266476C>G	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.308G>C	7.37:g.25266476C>G	ENSP00000222674:p.Gly103Ala						p.G103A	NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN			2	355	-			103					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.308G>C	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	C	1.049	-0.676374	0.03378	.	.	ENSG00000105954	ENST00000222674	T	0.21361	2.01	5.67	1.28	0.21552	.	1.000910	0.08060	N	0.997968	T	0.15998	0.0385	L	0.46157	1.445	0.09310	N	1	B	0.23806	0.091	B	0.19946	0.027	T	0.38067	-0.9678	10	0.14252	T	0.57	1.3224	5.113	0.14819	0.0:0.4904:0.1506:0.359	.	103	Q9HCQ7	RFRP_HUMAN	A	103	ENSP00000222674:G103A	ENSP00000222674:G103A	G	-	2	0	NPVF	25233001	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.606000	0.24194	0.423000	0.26033	-0.136000	0.14681	GGA		PASS	0.473	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		24	43	24	43	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38431391	38431391	+	Silent	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:38431391T>A	ENST00000356264.2	-	19	2051	c.1836A>T	c.(1834-1836)gcA>gcT	p.A612A	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.A570A|AMPH_ENST00000428293.2_Silent_p.A570A	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	612					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A612A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGGCCTCCCTTGCAGATGCTA	0.522																																						uc003tgu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(1834-1836)GCA>GCT		amphiphysin isoform 1							52.0	53.0	52.0					7																	38431391		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431391T>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1836A>T	7.37:g.38431391T>A						AMPH_uc003tgv.2_Silent_p.A570A|AMPH_uc003tgt.2_Silent_p.A497A|AMPH_uc003tgw.1_Silent_p.A635A|AMPH_uc010kxl.1_RNA	p.A612A	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1905	-			612					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1836A>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	T	7.343	0.621237	0.14193	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.65	-10.4	0.00318	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5295	9.3938	0.38390	0.0:0.2398:0.4586:0.3016	.	.	.	.	X	495	.	.	K	-	1	0	AMPH	38397916	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.213000	0.09305	-1.289000	0.02375	-0.250000	0.11733	AAG		PASS	0.522	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		19	47	19	47	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44193036	44193036	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:44193036C>A	ENST00000403799.3	-	2	541	c.72G>T	c.(70-72)caG>caT	p.Q24H	GCK_ENST00000476008.1_5'UTR|GCK_ENST00000395796.3_Missense_Mutation_p.Q23H|GCK_ENST00000345378.2_Missense_Mutation_p.Q25H|GCK_ENST00000437084.1_Missense_Mutation_p.Q24H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	24	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.Q24H(1)|p.Q25H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCTCCTGCAGCTGGAACTCTG	0.632																																						uc003tkl.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)	4						c.(70-72)CAG>CAT		glucokinase isoform 1							186.0	170.0	175.0					7																	44193036		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44193036C>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.72G>T	7.37:g.44193036C>A	ENSP00000384247:p.Gln24His					GCK_uc003tkj.1_Missense_Mutation_p.Q23H|GCK_uc003tkk.1_Missense_Mutation_p.Q25H	p.Q24H	NM_000162	NP_000153	P35557	HXK4_HUMAN			2	542	-			24					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.72G>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511229	0.27036	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85	5.26	3.47	0.39725	Hexokinase, N-terminal (1);	0.653933	0.15848	N	0.241656	D	0.91300	0.7257	N	0.03209	-0.39	0.30775	N	0.742614	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	D	0.85807	0.1377	10	0.11794	T	0.64	-23.12	6.6588	0.23002	0.1432:0.7072:0.0:0.1496	.	24;25;23	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	H	24;23;25;24	ENSP00000384247:Q24H;ENSP00000379142:Q23H;ENSP00000223366:Q25H;ENSP00000402840:Q24H	ENSP00000223366:Q25H	Q	-	3	2	GCK	44159561	0.877000	0.30153	1.000000	0.80357	0.995000	0.86356	0.278000	0.18753	0.726000	0.32339	0.655000	0.94253	CAG		PASS	0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			90	150	90	150	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47947844	47947844	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:47947844C>G	ENST00000289672.2	-	9	1282	c.1232G>C	c.(1231-1233)gGa>gCa	p.G411A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	411					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G411A(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATATAGACTCCTTCTGGAAA	0.393																																						uc003tny.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(1231-1233)GGA>GCA		polycystin-1L1							69.0	62.0	65.0					7																	47947844		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47947844C>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1232G>C	7.37:g.47947844C>G	ENSP00000289672:p.Gly411Ala						p.G411A	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			9	1232	-			411			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1232G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	8.148	0.786716	0.16189	.	.	ENSG00000158683	ENST00000289672	T	0.32988	1.43	5.32	3.42	0.39159	.	2.122690	0.02186	N	0.060958	T	0.27169	0.0666	L	0.27053	0.805	0.25532	N	0.987265	P	0.46064	0.872	B	0.38712	0.28	T	0.41305	-0.9516	10	0.45353	T	0.12	-14.0188	11.9013	0.52685	0.0:0.6608:0.3392:0.0	.	411	Q8TDX9	PK1L1_HUMAN	A	411	ENSP00000289672:G411A	ENSP00000289672:G411A	G	-	2	0	PKD1L1	47914369	0.913000	0.31002	0.582000	0.28627	0.245000	0.25701	1.939000	0.40213	0.571000	0.29365	0.650000	0.86243	GGA		PASS	0.393	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		8	44	8	44	---	---	---	---
FZD9	8326	broad.mit.edu	37	7	72849712	72849712	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:72849712G>T	ENST00000344575.3	+	1	1604	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	459					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A459S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACGGTGCCCGCCACCTGCGT	0.617																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1375-1377)GCC>TCC		frizzled 9 precursor							61.0	61.0	61.0					7																	72849712		2202	4300	6502	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849712G>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1375G>T	7.37:g.72849712G>T	ENSP00000345785:p.Ala459Ser						p.A459S	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1604	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	459			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000344575.3	37	c.1375G>T	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942954	0.73672	.	.	ENSG00000188763	ENST00000344575	D	0.83591	-1.74	4.47	4.47	0.54385	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.91994	0.7464	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93642	0.6965	10	0.87932	D	0	.	16.4632	0.84070	0.0:0.0:1.0:0.0	.	459	O00144	FZD9_HUMAN	S	459	ENSP00000345785:A459S	ENSP00000345785:A459S	A	+	1	0	FZD9	72487648	1.000000	0.71417	0.965000	0.40720	0.821000	0.46438	9.809000	0.99208	2.189000	0.69895	0.563000	0.77884	GCC		PASS	0.617	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			3	9	3	9	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91660895	91660895	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:91660895C>G	ENST00000359028.2	+	17	4576	c.4351C>G	c.(4351-4353)Caa>Gaa	p.Q1451E	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q1439E|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1451E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1451					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.Q1439E(1)|p.Q1451E(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATACCAAGAACAATTAGAAGA	0.303			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(4315-4317)CAA>GAA		A-kinase anchor protein 9 isoform 2							123.0	131.0	128.0					7																	91660895		2202	4293	6495	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91660895C>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4351C>G	7.37:g.91660895C>G	ENSP00000351922:p.Gln1451Glu					AKAP9_uc003ule.2_Missense_Mutation_p.Q1451E|AKAP9_uc003ulf.2_Missense_Mutation_p.Q1439E|AKAP9_uc003uli.2_Missense_Mutation_p.Q1064E	p.Q1439E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	4540	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1451			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.4315C>G		.	.	.	.	.	.	.	.	.	.	C	10.25	1.297929	0.23650	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03152	4.03;4.03;4.03	4.88	2.92	0.33932	.	0.284085	0.19197	N	0.120275	T	0.02455	0.0075	N	0.08118	0	0.21897	N	0.999483	B;B;B;B	0.15930	0.001;0.004;0.002;0.015	B;B;B;B	0.15484	0.004;0.006;0.009;0.013	T	0.42716	-0.9435	10	0.72032	D	0.01	.	10.8112	0.46549	0.4839:0.5161:0.0:0.0	.	1451;1439;1439;1451	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	E	1439;1451;1451;1451;1451	ENSP00000348573:Q1439E;ENSP00000351922:Q1451E;ENSP00000350813:Q1451E	ENSP00000348573:Q1439E	Q	+	1	0	AKAP9	91498831	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	1.204000	0.32296	1.378000	0.46305	0.557000	0.71058	CAA		PASS	0.303	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	78	7	78	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99783901	99783901	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:99783901C>A	ENST00000426455.1	+	5	822	c.415C>A	c.(415-417)Caa>Aaa	p.Q139K	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.Q139K	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	139					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.Q139K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTTTTCATCCAATCTTGCGG	0.403																																						uc003utx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(415-417)CAA>AAA		stromal antigen 3							174.0	171.0	172.0					7																	99783901		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99783901C>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.415C>A	7.37:g.99783901C>A	ENSP00000400359:p.Gln139Lys					STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron	p.Q139K	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			5	570	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		139					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.415C>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	15.62	2.888647	0.52014	.	.	ENSG00000066923	ENST00000426455;ENST00000416412;ENST00000339784;ENST00000317296	T;T	0.24151	1.87;1.87	5.65	3.67	0.42095	.	0.573430	0.14419	N	0.320773	T	0.27169	0.0666	L	0.61036	1.89	0.22354	N	0.999173	B	0.02656	0.0	B	0.09377	0.004	T	0.13575	-1.0504	10	0.38643	T	0.18	-0.5511	11.354	0.49605	0.1413:0.7218:0.1368:0.0	.	139	Q9UJ98	STAG3_HUMAN	K	139	ENSP00000400359:Q139K;ENSP00000319318:Q139K	ENSP00000319318:Q139K	Q	+	1	0	STAG3	99621837	0.601000	0.26907	0.964000	0.40570	0.936000	0.57629	3.101000	0.50283	1.316000	0.45131	0.555000	0.69702	CAA		PASS	0.403	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		6	124	6	124	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99809470	99809470	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:99809470T>G	ENST00000426455.1	+	32	3975	c.3568T>G	c.(3568-3570)Tca>Gca	p.S1190A	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.S1132A|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.S1190A	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1190					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.S1190A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGGATGAGTCAAATGAAGA	0.483																																						uc003utx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(3568-3570)TCA>GCA		stromal antigen 3							115.0	96.0	103.0					7																	99809470		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99809470T>G	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3568T>G	7.37:g.99809470T>G	ENSP00000400359:p.Ser1190Ala					STAG3_uc011kjk.1_Missense_Mutation_p.S1132A|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.S415A|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA	p.S1190A	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			32	3723	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1190					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.3568T>G	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	t	0.077	-1.190405	0.01607	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	3.77	1.32	0.21799	.	2.209180	0.02885	N	0.133394	T	0.23249	0.0562	L	0.44542	1.39	0.18873	N	0.999989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24693	-1.0153	10	0.56958	D	0.05	-0.0314	3.9546	0.09383	0.0:0.1146:0.2152:0.6701	.	1132;1191;1190	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	A	1190;1132;853;211;1190;149	ENSP00000400359:S1190A;ENSP00000377586:S1132A;ENSP00000319318:S1190A;ENSP00000395039:S149A	ENSP00000319318:S1190A	S	+	1	0	STAG3	99647406	0.134000	0.22483	0.042000	0.18584	0.797000	0.45037	0.500000	0.22562	0.283000	0.22279	0.459000	0.35465	TCA		PASS	0.483	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		14	83	14	83	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100161511	100161511	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:100161511C>A	ENST00000300176.4	+	10	1348	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	409	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.F403fs*30(1)|p.P409H(1)		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						GCAGTGCCACCCACTGGGGCC	0.617											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003uvf.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		ovary(1)|lung(1)	central_nervous_system(1)	1						c.(1225-1227)CCC>CAC		ArfGAP with FG repeats 2							68.0	74.0	72.0					7																	100161511		2203	4300	6503	SO:0001583	missense	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100161511C>A	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.1226C>A	7.37:g.100161511C>A	ENSP00000300176:p.Pro409His		OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_uc010lgy.2_Intron	p.P409H	NM_006076	NP_006067	O95081	AGFG2_HUMAN			10	1362	+			409			Pro-rich.		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	c.1226C>A	CCDS5697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.77|14.77	2.635910|2.635910	0.47049|0.47049	.|.	.|.	ENSG00000106351|ENSG00000106351	ENST00000300176|ENST00000429987	T|T	0.27890|0.45668	1.64|0.89	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	0.146527|0.146527	0.47455|0.47455	D|D	0.000240|0.000240	T|T	0.48660|0.48660	0.1512|0.1512	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	P|.	0.54401|.	0.751|.	T|T	0.34900|0.34900	-0.9810|-0.9810	10|8	0.54805|0.24483	T|T	0.06|0.36	-20.5205|-20.5205	12.3039|12.3039	0.54891|0.54891	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	409|.	O95081|.	AGFG2_HUMAN|.	H|T	409|151	ENSP00000300176:P409H|ENSP00000388594:P151T	ENSP00000300176:P409H|ENSP00000388594:P151T	P|P	+|+	2|1	0|0	AGFG2|AGFG2	99999447|99999447	0.422000|0.422000	0.25473|0.25473	0.701000|0.701000	0.30321|0.30321	0.088000|0.088000	0.18126|0.18126	3.503000|3.503000	0.53340|0.53340	2.276000|2.276000	0.75962|0.75962	0.555000|0.555000	0.69702|0.69702	CCC|CCA		PASS	0.617	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		5	48	5	48	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104742347	104742347	+	Silent	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:104742347A>G	ENST00000311117.3	+	17	2447	c.1902A>G	c.(1900-1902)gaA>gaG	p.E634E	KMT2E_ENST00000334877.4_Silent_p.E634E|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.E634E|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	634					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E634E(1)									AAGCAAAAGAAGAAAATGCTA	0.353																																						uc003vcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1900-1902)GAA>GAG		myeloid/lymphoid or mixed-lineage leukemia 5							35.0	38.0	37.0					7																	104742347		2201	4298	6499	SO:0001819	synonymous_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104742347A>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1902A>G	7.37:g.104742347A>G						MLL5_uc010ljc.2_Silent_p.E634E|MLL5_uc010lje.1_RNA	p.E634E	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			17	2436	+			634					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.1902A>G	CCDS34723.1																																																																																				PASS	0.353	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			36	20	36	20	---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105641957	105641957	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:105641957G>T	ENST00000317716.9	+	7	843	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.V255L|CDHR3_ENST00000478080.1_Missense_Mutation_p.V167L	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	255	Cadherin 3. {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.V255L(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGGAACCATCGTGGCCAATAT	0.498																																						uc003vdl.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(763-765)GTG>TTG		hypothetical protein LOC222256 precursor							191.0	189.0	190.0					7																	105641957		2010	4173	6183	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105641957G>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.763G>T	7.37:g.105641957G>T	ENSP00000325954:p.Val255Leu					CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.V242L|CDHR3_uc011klt.1_Missense_Mutation_p.V167L|CDHR3_uc003vdn.2_5'UTR	p.V255L	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			7	871	+			255			Cadherin 3.|Extracellular (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.763G>T	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809398	0.31961	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080;ENST00000466045	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.49	3.68	0.42216	Cadherin (3);Cadherin-like (1);	0.159111	0.40818	N	0.001010	T	0.66934	0.2840	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61797	-0.6989	10	0.15499	T	0.54	-11.7707	13.7134	0.62682	0.1433:0.0:0.8567:0.0	.	242;255	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	L	255;255;167;13	ENSP00000439766:V255L;ENSP00000325954:V255L;ENSP00000417771:V167L;ENSP00000419017:V13L	ENSP00000325954:V255L	V	+	1	0	CDHR3	105429193	0.999000	0.42202	0.449000	0.26957	0.012000	0.07955	3.381000	0.52455	0.291000	0.22468	-0.797000	0.03246	GTG		PASS	0.498	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		85	53	85	53	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107818549	107818549	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:107818549C>T	ENST00000425651.2	-	23	2859	c.2860G>A	c.(2860-2862)Gct>Act	p.A954T	NRCAM_ENST00000379028.3_Missense_Mutation_p.A954T|NRCAM_ENST00000379022.4_Missense_Mutation_p.A954T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A935T|NRCAM_ENST00000413765.2_Missense_Mutation_p.A935T|NRCAM_ENST00000351718.4_Missense_Mutation_p.A938T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	954	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.			A -> V (in Ref. 9; CAA04507). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.A938T(1)|p.A954T(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GACGAGGGAGCACTGGGGACT	0.443																																						uc003vfb.2																			2	Substitution - Missense(2)	p.L954L(1)	lung(2)	ovary(3)|breast(2)	5						c.(2860-2862)GCT>ACT		neuronal cell adhesion molecule isoform A							74.0	66.0	69.0					7																	107818549		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107818549C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2860G>A	7.37:g.107818549C>T	ENSP00000401244:p.Ala954Thr					NRCAM_uc003vfc.2_Missense_Mutation_p.A938T|NRCAM_uc011kmk.1_Missense_Mutation_p.A949T|NRCAM_uc003vfd.2_Missense_Mutation_p.A930T|NRCAM_uc003vfe.2_Missense_Mutation_p.A930T|NRCAM_uc011kmj.1_5'Flank	p.A954T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			26	3331	-			954	A -> V (in Ref. 8; CAA04507).		Fibronectin type-III 4.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2860G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685581	0.47991	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	6.05	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.199524	0.53938	D	0.000054	T	0.65606	0.2707	M	0.72624	2.21	0.40333	D	0.978943	P;P;P;P;B	0.42039	0.769;0.581;0.6;0.545;0.233	P;B;B;B;B	0.51999	0.687;0.381;0.363;0.248;0.08	T	0.63462	-0.6632	10	0.16420	T	0.52	.	12.0044	0.53251	0.2416:0.6418:0.1166:0.0	.	954;935;935;938;954	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	T	954;954;935;954;938;935;954;954	ENSP00000368314:A954T;ENSP00000407858:A935T;ENSP00000325269:A938T;ENSP00000368310:A935T;ENSP00000401244:A954T;ENSP00000368308:A954T	ENSP00000325269:A938T	A	-	1	0	NRCAM	107605785	0.520000	0.26250	1.000000	0.80357	0.614000	0.37383	0.409000	0.21082	1.536000	0.49237	0.650000	0.86243	GCT		PASS	0.443	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		5	37	5	37	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107822332	107822332	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:107822332G>T	ENST00000425651.2	-	21	2579	c.2580C>A	c.(2578-2580)acC>acA	p.T860T	NRCAM_ENST00000379028.3_Silent_p.T860T|NRCAM_ENST00000379022.4_Silent_p.T860T|NRCAM_ENST00000379024.4_Silent_p.T841T|NRCAM_ENST00000413765.2_Silent_p.T841T|NRCAM_ENST00000351718.4_Silent_p.T844T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	860	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.T860T(1)|p.T844T(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTCGGCTAAGGTACTGTTCA	0.478																																						uc003vfb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)	5						c.(2578-2580)ACC>ACA		neuronal cell adhesion molecule isoform A							107.0	89.0	95.0					7																	107822332		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107822332G>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2580C>A	7.37:g.107822332G>T						NRCAM_uc003vfc.2_Silent_p.T844T|NRCAM_uc011kmk.1_Silent_p.T855T|NRCAM_uc003vfd.2_Silent_p.T836T|NRCAM_uc003vfe.2_Silent_p.T836T	p.T860T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			24	3051	-			860			Fibronectin type-III 3.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.2580C>A	CCDS47686.1																																																																																				PASS	0.478	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		5	52	5	52	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117400707	117400707	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:117400707C>T	ENST00000160373.3	-	10	3045	c.2954G>A	c.(2953-2955)gGt>gAt	p.G985D		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	985					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.G985D(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTCATCAGAACCATAGTTGCT	0.363																																						uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2953-2955)GGT>GAT		cortactin binding protein 2							128.0	124.0	125.0					7																	117400707		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400707C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2954G>A	7.37:g.117400707C>T	ENSP00000160373:p.Gly985Asp						p.G985D	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	3046	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		985					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2954G>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.09|13.09	2.132075|2.132075	0.37630|0.37630	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.64991|.	-0.13|.	5.4|5.4	3.58|3.58	0.41010|0.41010	.|.	0.563225|.	0.20433|.	N|.	0.092426|.	T|.	0.34745|.	0.0908|.	L|L	0.36672|0.36672	1.1|1.1	0.25547|0.25547	N|N	0.987128|0.987128	B|.	0.12013|.	0.005|.	B|.	0.09377|.	0.004|.	T|.	0.20605|.	-1.0270|.	10|.	0.44086|.	T|.	0.13|.	-0.1761|-0.1761	7.0767|7.0767	0.25209|0.25209	0.1297:0.6763:0.1251:0.0689|0.1297:0.6763:0.1251:0.0689	.|.	985|.	Q8WZ74|.	CTTB2_HUMAN|.	D|X	985|472	ENSP00000160373:G985D|.	ENSP00000160373:G985D|.	G|W	-|-	2|3	0|0	CTTNBP2|CTTNBP2	117187943|117187943	0.991000|0.991000	0.36638|0.36638	0.711000|0.711000	0.30485|0.30485	0.980000|0.980000	0.70556|0.70556	2.279000|2.279000	0.43435|0.43435	0.746000|0.746000	0.32786|0.32786	0.650000|0.650000	0.86243|0.86243	GGT|TGG		PASS	0.363	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		11	48	11	48	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121731799	121731799	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:121731799C>G	ENST00000393376.1	-	17	2069	c.1974G>C	c.(1972-1974)ttG>ttC	p.L658F	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.L658F			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	658	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.L658F(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTACATTCATCAAAACTCCCA	0.423																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1972-1974)TTG>TTC		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						83.0	80.0	81.0					7																	121731799		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121731799C>G	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1974G>C	7.37:g.121731799C>G	ENSP00000377040:p.Leu658Phe					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.L658F|AASS_uc011knw.1_Missense_Mutation_p.L146F	p.L658F	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			17	2070	-			658			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1974G>C	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501848	0.64298	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.55052	0.54;0.54	5.58	2.38	0.29361	.	0.000000	0.64402	D	0.000001	T	0.71626	0.3362	M	0.90309	3.105	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.72730	-0.4205	10	0.66056	D	0.02	-11.7058	5.8386	0.18621	0.128:0.5446:0.2497:0.0777	.	658	Q9UDR5	AASS_HUMAN	F	658	ENSP00000377040:L658F;ENSP00000403768:L658F	ENSP00000351834:L658F	L	-	3	2	AASS	121519035	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.504000	0.35726	1.351000	0.45789	0.650000	0.86243	TTG		PASS	0.423	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	17	4	17	---	---	---	---
METTL2B	55798	broad.mit.edu	37	7	128141838	128141838	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:128141838C>A	ENST00000262432.8	+	9	1042	c.1005C>A	c.(1003-1005)acC>acA	p.T335T	METTL2B_ENST00000480046.1_Silent_p.T270T	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	335					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.T335T(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGCTTTTCACCACTGCTGGAC	0.433																																						uc003vnf.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1003-1005)ACC>ACA		methyltransferase like 2B							70.0	75.0	73.0					7																	128141838		2203	4298	6501	SO:0001819	synonymous_variant	55798						methyltransferase activity	g.chr7:128141838C>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.1005C>A	7.37:g.128141838C>A						METTL2B_uc003vng.2_Silent_p.T270T|METTL2B_uc011kop.1_Silent_p.T199T	p.T335T	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN			9	1042	+			335					B4DZ68|Q0IJ54|Q3B7J1	Silent	SNP	ENST00000262432.8	37	c.1005C>A	CCDS5803.2																																																																																				PASS	0.433	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		6	95	6	95	---	---	---	---
FAM71F2	346653	broad.mit.edu	37	7	128315900	128315900	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:128315900A>G	ENST00000480462.1	+	2	458	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.I109V|FAM71F2_ENST00000477515.1_Missense_Mutation_p.I118V			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	118								p.I118V(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CGCCCCAGTCATCAACCTCAG	0.537																																						uc003vnk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)ATC>GTC		hypothetical protein LOC346653 isoform a							39.0	36.0	37.0					7																	128315900		1901	4116	6017	SO:0001583	missense	346653							g.chr7:128315900A>G	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.352A>G	7.37:g.128315900A>G	ENSP00000420140:p.Ile118Val					FAM71F2_uc010llm.1_Missense_Mutation_p.I109V|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	p.I118V	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN			2	458	+			118					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.352A>G	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	A	9.876	1.200296	0.22121	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.35789	2.4;2.4;2.4;2.4;1.29	4.67	2.31	0.28768	.	0.134854	0.34046	N	0.004314	T	0.25158	0.0611	L	0.39898	1.24	0.21499	N	0.999669	B;B	0.11235	0.003;0.004	B;B	0.17722	0.011;0.019	T	0.13575	-1.0504	10	0.40728	T	0.16	-6.2839	5.4116	0.16351	0.7627:0.0:0.2373:0.0	.	109;118	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	V	109;118;109;109;118	ENSP00000418907:I109V;ENSP00000420140:I118V;ENSP00000367976:I109V;ENSP00000401654:I109V;ENSP00000419649:I118V	ENSP00000367976:I109V	I	+	1	0	FAM71F2	128103136	0.654000	0.27367	0.958000	0.39756	0.605000	0.37080	0.495000	0.22483	0.914000	0.36822	0.455000	0.32223	ATC		PASS	0.537	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			4	27	4	27	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128493535	128493535	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:128493535T>A	ENST00000325888.8	+	38	6482	c.6221T>A	c.(6220-6222)tTg>tAg	p.L2074*	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Nonsense_Mutation_p.L2041*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2074					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.L2074*(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TATGGGGGCTTGGGGCTGAGT	0.592																																						uc003vnz.3																			1	Substitution - Nonsense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6220-6222)TTG>TAG		gamma filamin isoform a							84.0	90.0	88.0					7																	128493535		2028	4173	6201	SO:0001587	stop_gained	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493535T>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6221T>A	7.37:g.128493535T>A	ENSP00000327145:p.Leu2074*					FLNC_uc003voa.3_Nonsense_Mutation_p.L2041*	p.L2074*	NM_001458	NP_001449	Q14315	FLNC_HUMAN			38	6430	+			2074			Filamin 19.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Nonsense_Mutation	SNP	ENST00000325888.8	37	c.6221T>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	48	14.691155	0.99806	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4665	0.75406	0.0:0.0:0.0:1.0	.	.	.	.	X	2074;2041	.	ENSP00000327145:L2074X	L	+	2	0	FLNC	128280771	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.013000	0.88655	2.054000	0.61138	0.459000	0.35465	TTG		PASS	0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			25	11	25	11	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138552813	138552813	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:138552813C>A	ENST00000422774.1	-	15	4885	c.4837G>T	c.(4837-4839)Gac>Tac	p.D1613Y	KIAA1549_ENST00000440172.1_Missense_Mutation_p.D1613Y|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D1563Y			Q9HCM3	K1549_HUMAN	KIAA1549	1613						integral component of membrane (GO:0016021)		p.D1613Y(1)|p.D1563Y(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCTCAGCGTCGGCAGGACAG	0.577			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(4837-4839)GAC>TAC		hypothetical protein LOC57670 isoform 1							52.0	61.0	58.0					7																	138552813		2071	4198	6269	SO:0001583	missense	57670					integral to membrane		g.chr7:138552813C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4837G>T	7.37:g.138552813C>A	ENSP00000416040:p.Asp1613Tyr					KIAA1549_uc011kqi.1_Missense_Mutation_p.D397Y|KIAA1549_uc003vuk.3_Missense_Mutation_p.D1563Y|KIAA1549_uc011kqj.1_Missense_Mutation_p.D1613Y|KIAA1549_uc011kqk.1_Missense_Mutation_p.D397Y	p.D1613Y	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			15	4886	-			1613					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.4837G>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793413	0.70452	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.32272	1.46;1.47;1.48	4.53	4.53	0.55603	.	0.048805	0.85682	D	0.000000	T	0.52645	0.1747	L	0.60455	1.87	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;0.984;0.999;0.984	T	0.56220	-0.8015	10	0.87932	D	0	.	16.79	0.85586	0.0:1.0:0.0:0.0	.	1613;397;1613;397	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	Y	1613;1563;1613	ENSP00000406661:D1613Y;ENSP00000242365:D1563Y;ENSP00000416040:D1613Y	ENSP00000242365:D1563Y	D	-	1	0	KIAA1549	138203353	1.000000	0.71417	0.147000	0.22382	0.529000	0.34654	4.831000	0.62752	2.493000	0.84123	0.655000	0.94253	GAC		PASS	0.577	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			8	9	8	9	---	---	---	---
RAB19	401409	broad.mit.edu	37	7	140111804	140111804	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:140111804G>T	ENST00000356407.3	+	2	400	c.332G>T	c.(331-333)tGg>tTg	p.W111L	RAB19_ENST00000275874.5_Missense_Mutation_p.W158L|RAB19_ENST00000537763.1_Missense_Mutation_p.W111L			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	111					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.W158L(1)		breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					ATCCCTCACTGGATTCATGAG	0.493																																						uc010lni.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)TGG>TTG		RAB19, member RAS oncogene family							179.0	155.0	163.0					7																	140111804		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111804G>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.332G>T	7.37:g.140111804G>T	ENSP00000348778:p.Trp111Leu					RAB19_uc011krc.1_Missense_Mutation_p.W111L	p.W111L	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN			3	530	+	Melanoma(164;0.0142)		111					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.332G>T	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706383	0.89018	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.66	5.66	0.87406	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94073	0.7337	10	0.87932	D	0	.	18.7315	0.91736	0.0:0.0:1.0:0.0	.	111	A4D1S5	RAB19_HUMAN	L	111;158;111;111	ENSP00000420782:W111L;ENSP00000275874:W158L;ENSP00000440167:W111L;ENSP00000348778:W111L	ENSP00000275874:W158L	W	+	2	0	RAB19	139758273	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	9.751000	0.98889	2.670000	0.90874	0.543000	0.68304	TGG		PASS	0.493	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			6	116	6	116	---	---	---	---
TMEM176A	55365	broad.mit.edu	37	7	150501463	150501463	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:150501463C>G	ENST00000484928.1	+	6	1150	c.569C>G	c.(568-570)aCc>aGc	p.T190S	TMEM176A_ENST00000461345.1_Missense_Mutation_p.T131S|TMEM176A_ENST00000004103.3_Missense_Mutation_p.T190S			Q96HP8	T176A_HUMAN	transmembrane protein 176A	190					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.T190S(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTTCAGAACCCTTCAGGCC	0.557																																						uc003whx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(568-570)ACC>AGC		hepatocellular carcinoma-associated antigen 112							150.0	124.0	133.0					7																	150501463		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150501463C>G	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.569C>G	7.37:g.150501463C>G	ENSP00000417626:p.Thr190Ser						p.T190S	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	647	+			190					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.569C>G	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	C	0.198	-1.047542	0.01981	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536	T;T;T;T	0.02085	4.46;4.46;4.46;4.46	4.51	2.53	0.30540	.	1.480600	0.04136	N	0.318758	T	0.01156	0.0038	N	0.01109	-1.01	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37197	-0.9716	10	0.11182	T	0.66	-19.8791	10.5128	0.44872	0.0:0.4087:0.5912:0.0	.	190	Q96HP8	T176A_HUMAN	S	190;190;131;142	ENSP00000417626:T190S;ENSP00000004103:T190S;ENSP00000420818:T131S;ENSP00000417834:T142S	ENSP00000004103:T190S	T	+	2	0	TMEM176A	150132396	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	1.139000	0.31504	1.019000	0.39547	-0.165000	0.13383	ACC		PASS	0.557	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		4	46	4	46	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150558048	150558048	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr7:150558048G>A	ENST00000493429.1	+	7	2591	c.2007G>A	c.(2005-2007)gtG>gtA	p.V669V	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Silent_p.V669V|AOC1_ENST00000467291.1_Silent_p.V669V|AOC1_ENST00000416793.2_Silent_p.V688V			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	669					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.V669V(1)								Amiloride(DB00594)	TGGCCTGGGTGACGGTGGGCT	0.597																																						uc003why.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(2005-2007)GTG>GTA		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						56.0	63.0	61.0					7																	150558048		2033	4192	6225	SO:0001819	synonymous_variant	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150558048G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2007G>A	7.37:g.150558048G>A						ABP1_uc003whz.1_Silent_p.V669V|ABP1_uc003wia.1_Silent_p.V688V	p.V669V	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	6225	+	all_neural(206;0.219)		669					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.2007G>A	CCDS43679.1																																																																																				PASS	0.597	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		7	37	7	37	---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	623443	623443	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:623443C>A	ENST00000262109.7	-	4	986	c.909G>T	c.(907-909)gaG>gaT	p.E303D	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.E209D	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	303	Glu-rich.							p.E303D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCGGGTCTTCCTCGCTGGCGT	0.617																																						uc003wph.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(907-909)GAG>GAT		glutamate-rich 1							128.0	129.0	129.0					8																	623443		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623443C>A		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.909G>T	8.37:g.623443C>A	ENSP00000262109:p.Glu303Asp					ERICH1_uc011kwh.1_Missense_Mutation_p.E303D|ERICH1_uc003wpe.1_Missense_Mutation_p.E209D|ERICH1_uc003wpi.2_Missense_Mutation_p.E115D	p.E303D	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	974	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	303			Glu-rich.		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.909G>T	CCDS5955.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.638897|1.638897	0.29157|0.29157	.|.	.|.	ENSG00000104714|ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109|ENST00000522893	T;T|.	0.34072|.	1.38;1.48|.	1.83|1.83	-0.0431|-0.0431	0.13861|0.13861	.|.	.|.	.|.	.|.	.|.	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	P;P;D|.	0.61697|.	0.95;0.859;0.99|.	P;B;P|.	0.54965|.	0.765;0.351;0.685|.	T|T	0.27706|0.27706	-1.0066|-1.0066	9|5	0.10111|.	T|.	0.7|.	.|.	5.9039|5.9039	0.18982|0.18982	0.0:0.6848:0.0:0.3152|0.0:0.6848:0.0:0.3152	.|.	303;303;209|.	B4DMI5;Q86X53;E5RHA3|.	.;ERIC1_HUMAN;.|.	D|M	303;209;303|72	ENSP00000428635:E209D;ENSP00000262109:E303D|.	ENSP00000262109:E303D|.	E|R	-|-	3|2	2|0	ERICH1|ERICH1	613443|613443	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.161000|-1.161000	0.03144|0.03144	-0.036000|-0.036000	0.13669|0.13669	-0.194000|-0.194000	0.12790|0.12790	GAG|AGG		PASS	0.617	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		13	93	13	93	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6302384	6302384	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:6302384A>G	ENST00000344683.5	+	8	1217	c.1141A>G	c.(1141-1143)Atc>Gtc	p.I381V	MCPH1_ENST00000522905.1_Missense_Mutation_p.I333V|MCPH1_ENST00000519480.1_Missense_Mutation_p.I381V	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	381					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.I381V(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGGAGATCTATCATGCCGAG	0.532																																					Colon(95;1448 1467 8277 34473 35819)	uc003wqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1141-1143)ATC>GTC		microcephalin							47.0	48.0	48.0					8																	6302384		2008	4177	6185	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302384A>G	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1141A>G	8.37:g.6302384A>G	ENSP00000342924:p.Ile381Val					MCPH1_uc003wqh.2_Missense_Mutation_p.I381V|MCPH1_uc011kwl.1_Missense_Mutation_p.I333V	p.I381V	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1209	+		Hepatocellular(245;0.0663)	381					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1141A>G	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025506	0.19512	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10005	2.92;2.92;2.92	5.5	-11.0	0.00169	.	2.017840	0.01601	N	0.022030	T	0.08044	0.0201	L	0.47716	1.5	0.09310	N	1	B;B;B	0.17268	0.021;0.002;0.001	B;B;B	0.22880	0.042;0.01;0.002	T	0.17349	-1.0372	10	0.33141	T	0.24	2.9071	3.5073	0.07695	0.4793:0.2659:0.1697:0.0851	.	333;381;381	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	V	381;381;333	ENSP00000342924:I381V;ENSP00000430962:I381V;ENSP00000430768:I333V	ENSP00000342924:I381V	I	+	1	0	MCPH1	6289792	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.424000	0.02448	-2.446000	0.00546	-0.291000	0.09656	ATC		PASS	0.532	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		11	38	11	38	---	---	---	---
PRSS55	203074	broad.mit.edu	37	8	10390507	10390507	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:10390507C>G	ENST00000328655.3	+	4	730	c.690C>G	c.(688-690)acC>acG	p.T230T	PRSS55_ENST00000522210.1_Silent_p.T230T|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.T230T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAAAACTTACCAAAAATATGC	0.483																																						uc003wta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(688-690)ACC>ACG		hypothetical protein LOC203074 precursor							124.0	109.0	114.0					8																	10390507		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10390507C>G	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.690C>G	8.37:g.10390507C>G						uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	p.T230T	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			4	705	+			230			Extracellular (Potential).|Peptidase S1.		E5RJX5	Silent	SNP	ENST00000328655.3	37	c.690C>G	CCDS5976.1																																																																																				PASS	0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		18	33	18	33	---	---	---	---
TUSC3	7991	broad.mit.edu	37	8	15601052	15601052	+	Missense_Mutation	SNP	G	G	A	rs367660078		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:15601052G>A	ENST00000503731.1	+	8	1016	c.868G>A	c.(868-870)Gct>Act	p.A290T	TUSC3_ENST00000506802.1_Missense_Mutation_p.A290T|TUSC3_ENST00000382020.4_Missense_Mutation_p.A290T	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	290					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A290T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGCAGATGCCGCTATCACCAT	0.393																																						uc003wwt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(868-870)GCT>ACT		tumor suppressor candidate 3 isoform a							171.0	184.0	179.0					8																	15601052		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15601052G>A	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.868G>A	8.37:g.15601052G>A	ENSP00000424544:p.Ala290Thr					TUSC3_uc003wwu.2_Missense_Mutation_p.A290T|TUSC3_uc003wwv.2_Missense_Mutation_p.A290T|TUSC3_uc003www.2_Missense_Mutation_p.A290T|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.P268P	p.A290T	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	8	1078	+			290			Helical; (Potential).		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.868G>A	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942364	0.92526	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000503731	T;T;T	0.75938	-0.98;-0.98;-0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84410	0.5466	M	0.65975	2.015	0.58432	D	0.999999	B;D;P	0.76494	0.382;0.999;0.806	B;D;B	0.76575	0.153;0.988;0.148	T	0.79715	-0.1687	10	0.20519	T	0.43	-14.8189	18.8674	0.92298	0.0:0.0:1.0:0.0	.	290;290;290	D6RIY7;Q13454-2;Q13454	.;.;TUSC3_HUMAN	T	290	ENSP00000371450:A290T;ENSP00000425777:A290T;ENSP00000424544:A290T	ENSP00000221167:A290T	A	+	1	0	TUSC3	15645423	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.404000	0.97306	2.784000	0.95788	0.585000	0.79938	GCT		PASS	0.393	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		13	46	13	46	---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26218532	26218532	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:26218532C>T	ENST00000380737.3	+	6	831	c.502C>T	c.(502-504)Cca>Tca	p.P168S	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.P178S	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	168					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P168S(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGAGGCCAGTCCACGAAGAAT	0.348																																						uc003xeu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(502-504)CCA>TCA		alpha isoform of regulatory subunit B55, protein							139.0	133.0	135.0					8																	26218532		2203	4300	6503	SO:0001583	missense	5520				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chr8:26218532C>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.502C>T	8.37:g.26218532C>T	ENSP00000370113:p.Pro168Ser					PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_Missense_Mutation_p.P178S	p.P168S	NM_002717	NP_002708	P63151	2ABA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	6	804	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	168					B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.502C>T	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935204	0.52866	.	.	ENSG00000221914	ENST00000380737;ENST00000315985;ENST00000521557	T;T	0.32515	1.45;1.45	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.38161	0.1030	M	0.85462	2.755	0.80722	D	1	P;P	0.45396	0.653;0.857	B;B	0.32583	0.108;0.148	T	0.53422	-0.8441	10	0.48119	T	0.1	-22.7302	19.4786	0.95000	0.0:1.0:0.0:0.0	.	178;168	B4E1T7;P63151	.;2ABA_HUMAN	S	168;178;9	ENSP00000370113:P168S;ENSP00000325074:P178S	ENSP00000325074:P178S	P	+	1	0	PPP2R2A	26274449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.686000	0.91538	0.585000	0.79938	CCA		PASS	0.348	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		4	24	4	24	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210186	28210186	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:28210186G>A	ENST00000344423.5	-	6	955	c.824C>T	c.(823-825)tCt>tTt	p.S275F	ZNF395_ENST00000523095.1_Missense_Mutation_p.S275F|ZNF395_ENST00000523202.1_Missense_Mutation_p.S275F	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S275F(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CACCTTCACAGAGTTCTACAG	0.527																																						uc003xgq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)TCT>TTT		zinc finger protein 395							141.0	120.0	127.0					8																	28210186		2203	4300	6503	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28210186G>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.824C>T	8.37:g.28210186G>A	ENSP00000340494:p.Ser275Phe					ZNF395_uc003xgt.2_Missense_Mutation_p.S275F|ZNF395_uc003xgr.2_Missense_Mutation_p.S275F|ZNF395_uc003xgs.2_Missense_Mutation_p.S275F	p.S275F	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	6	912	-		Ovarian(32;2.06e-05)	275					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.824C>T	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382199	0.82792	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.61859	0.07;0.07;0.07	5.27	5.27	0.74061	.	0.056860	0.64402	D	0.000001	T	0.77519	0.4142	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80638	-0.1293	10	0.72032	D	0.01	-21.5064	16.4092	0.83701	0.0:0.0:1.0:0.0	.	275	Q9H8N7	ZN395_HUMAN	F	275	ENSP00000340494:S275F;ENSP00000429640:S275F;ENSP00000428452:S275F	ENSP00000340494:S275F	S	-	2	0	ZNF395	28266105	1.000000	0.71417	0.952000	0.39060	0.744000	0.42396	9.593000	0.98250	2.466000	0.83321	0.561000	0.74099	TCT		PASS	0.527	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			10	50	10	50	---	---	---	---
FBXO16	157574	broad.mit.edu	37	8	28321168	28321168	+	Silent	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:28321168A>G	ENST00000380254.2	-	4	451	c.303T>C	c.(301-303)ttT>ttC	p.F101F	FBXO16_ENST00000346498.2_Silent_p.F89F|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Silent_p.F89F	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	101	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.F101F(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CCAGGAAAGAAAAGATGTATA	0.458																																						uc003xgu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(301-303)TTT>TTC		F-box only protein 16							63.0	61.0	61.0					8																	28321168		2203	4300	6503	SO:0001819	synonymous_variant	157574							g.chr8:28321168A>G	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.303T>C	8.37:g.28321168A>G						ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Silent_p.F88F|FBXO16_uc003xgw.2_Silent_p.F88F	p.F101F	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	4	401	-		Ovarian(32;2.06e-05)	101			F-box.		Q3T1B2|Q3T1B3|Q3T1B4	Silent	SNP	ENST00000380254.2	37	c.303T>C	CCDS6068.1																																																																																				PASS	0.458	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		4	29	4	29	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48855900	48855900	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:48855900C>T	ENST00000314191.2	-	10	891	c.835G>A	c.(835-837)Gca>Aca	p.A279T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A279T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	279					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.A279T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AACTGAGATGCATGCAGGGCA	0.428								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(835-837)GCA>ACA	NHEJ	protein kinase, DNA-activated, catalytic							49.0	47.0	48.0					8																	48855900		1951	4140	6091	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48855900C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.835G>A	8.37:g.48855900C>T	ENSP00000313420:p.Ala279Thr					PRKDC_uc003xqj.2_Missense_Mutation_p.A279T|PRKDC_uc011ldh.1_Missense_Mutation_p.A279T	p.A279T	NM_006904	NP_008835	P78527	PRKDC_HUMAN			10	892	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	279					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.835G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.116155	0.77323	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70516	-0.35;-0.49	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	.	.	.	0.49915	D	0.999832	P;D;D	0.54601	0.681;0.967;0.967	B;P;P	0.51193	0.327;0.662;0.662	T	0.79593	-0.1739	9	0.72032	D	0.01	.	14.5515	0.68070	0.2168:0.7832:0.0:0.0	.	279;279;279	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	279	ENSP00000313420:A279T;ENSP00000345182:A279T	ENSP00000313420:A279T	A	-	1	0	PRKDC	49018453	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.473000	0.53122	2.512000	0.84698	0.655000	0.94253	GCA		PASS	0.428	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		12	22	12	22	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52252215	52252215	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:52252215A>T	ENST00000356297.4	-	21	4215	c.4115T>A	c.(4114-4116)aTt>aAt	p.I1372N	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1372					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.I1372N(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)				GGTTTCCTGAATTTCCGCTGC	0.378																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4114-4116)ATT>AAT		peroxidasin homolog-like precursor							140.0	136.0	137.0					8																	52252215		1878	4103	5981	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52252215A>T		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.4115T>A	8.37:g.52252215A>T	ENSP00000348645:p.Ile1372Asn					PXDNL_uc003xqt.3_Intron	p.I1372N	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			21	4216	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1372					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4115T>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.03|11.03	1.517851|1.517851	0.27211|0.27211	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.65732	.|-0.17	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.42337|0.42337	0.1198|0.1198	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.23377	.|0.084	.|B	.|0.22880	.|0.042	T|T	0.41893|0.41893	-0.9483|-0.9483	5|9	.|0.66056	.|D	.|0.02	.|.	11.0759|11.0759	0.48032|0.48032	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1372	.|A1KZ92	.|PXDNL_HUMAN	I|N	446|1372	.|ENSP00000348645:I1372N	.|ENSP00000348645:I1372N	F|I	-|-	1|2	0|0	PXDNL|PXDNL	52414768|52414768	0.976000|0.976000	0.34144|0.34144	0.937000|0.937000	0.37676|0.37676	0.047000|0.047000	0.14425|0.14425	1.660000|1.660000	0.37397|0.37397	1.871000|1.871000	0.54225|0.54225	0.482000|0.482000	0.46254|0.46254	TTC|ATT		PASS	0.378	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		20	63	20	63	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733117	52733117	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:52733117A>G	ENST00000360540.5	-	7	1274	c.868T>C	c.(868-870)Ttt>Ctt	p.F290L	PCMTD1_ENST00000544451.1_Missense_Mutation_p.F214L|PCMTD1_ENST00000522514.1_Missense_Mutation_p.F290L|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	290						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.F290L(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTACCCACAAATACGTAAGTG	0.393																																						uc003xqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)TTT>CTT		protein-L-isoaspartate (D-aspartate)							196.0	193.0	194.0					8																	52733117		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733117A>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.868T>C	8.37:g.52733117A>G	ENSP00000353739:p.Phe290Leu					PCMTD1_uc011ldm.1_Missense_Mutation_p.F160L|PCMTD1_uc003xqw.3_Missense_Mutation_p.F290L|PCMTD1_uc011ldn.1_Missense_Mutation_p.F102L|PCMTD1_uc010lya.2_Missense_Mutation_p.F214L	p.F290L	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1209	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	290					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.868T>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.832582	0.91036	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.97	0.96955	.	0.046545	0.85682	D	0.000000	T	0.61652	0.2364	L	0.57536	1.79	0.80722	D	1	D;D;B	0.71674	0.976;0.998;0.011	P;D;B	0.76071	0.6;0.987;0.01	T	0.60939	-0.7163	10	0.48119	T	0.1	-32.0992	16.4473	0.83942	1.0:0.0:0.0:0.0	.	160;214;290	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	L	290;214;290	ENSP00000353739:F290L;ENSP00000444026:F214L;ENSP00000428099:F290L	ENSP00000353739:F290L	F	-	1	0	PCMTD1	52895670	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	8.424000	0.90267	2.281000	0.76405	0.533000	0.62120	TTT		PASS	0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		11	223	11	223	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767709	77767709	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:77767709C>G	ENST00000521891.2	+	10	9000	c.8552C>G	c.(8551-8553)cCt>cGt	p.P2851R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2806R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2825R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2806R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2806					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.P2835R(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)			CTGCCAAAACCTGCAACCACA	0.483										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8416-8418)CCT>CGT		zinc finger homeodomain 4							73.0	75.0	75.0					8																	77767709		1944	4144	6088	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767709C>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.8552C>G	8.37:g.77767709C>G	ENSP00000430497:p.Pro2851Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2851R|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2806R	p.P2806R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8804	+			2806					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8417C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.445682	0.01089	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46819	0.86;0.92;0.88;0.88	5.25	5.25	0.73442	.	1.190580	0.06394	U	0.717521	T	0.28300	0.0699	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.04885	-1.0920	10	0.30854	T	0.27	.	10.5707	0.45198	0.148:0.7091:0.1429:0.0	.	2806;2806;2851	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2851;2835;2806;2806;2825	ENSP00000430497:P2851R;ENSP00000399605:P2806R;ENSP00000050961:P2806R;ENSP00000430848:P2825R	ENSP00000050961:P2806R	P	+	2	0	ZFHX4	77930264	0.476000	0.25901	0.040000	0.18447	0.007000	0.05969	2.835000	0.48175	2.733000	0.93635	0.561000	0.74099	CCT		PASS	0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		24	79	24	79	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99148753	99148753	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:99148753C>A	ENST00000401707.2	+	8	1136	c.1055C>A	c.(1054-1056)cCc>cAc	p.P352H	POP1_ENST00000349693.3_Missense_Mutation_p.P352H	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	352					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.P352H(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGTGTGGAACCCATCAAATCA	0.358																																						uc003yij.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1054-1056)CCC>CAC		processing of precursor 1							101.0	110.0	107.0					8																	99148753		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99148753C>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1055C>A	8.37:g.99148753C>A	ENSP00000385787:p.Pro352His					POP1_uc011lgv.1_Missense_Mutation_p.P352H|POP1_uc003yik.2_Missense_Mutation_p.P352H	p.P352H	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		8	1155	+	Breast(36;1.78e-06)		352					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.1055C>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156662	0.38119	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.37411	1.2;1.2	5.39	4.5	0.54988	.	0.138574	0.49305	D	0.000150	T	0.53562	0.1804	M	0.72479	2.2	0.49213	D	0.999769	D	0.71674	0.998	P	0.61201	0.885	T	0.54957	-0.8215	10	0.52906	T	0.07	-0.9607	12.3759	0.55279	0.0:0.9204:0.0:0.0796	.	352	Q99575	POP1_HUMAN	H	352	ENSP00000385787:P352H;ENSP00000339529:P352H	ENSP00000339529:P352H	P	+	2	0	POP1	99217929	0.997000	0.39634	0.070000	0.20053	0.005000	0.04900	3.888000	0.56204	2.537000	0.85549	0.655000	0.94253	CCC		PASS	0.358	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		9	248	9	248	---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103664484	103664484	+	Missense_Mutation	SNP	C	C	G	rs535965206		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:103664484C>G	ENST00000285407.6	-	2	478	c.178G>C	c.(178-180)Gtt>Ctt	p.V60L	KLF10_ENST00000395884.3_Missense_Mutation_p.V49L	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	60					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V60L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTTTTCAACGTATTTCTTA	0.383											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)GTT>CTT		Kruppel-like factor 10 isoform a							109.0	106.0	107.0					8																	103664484		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664484C>G	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.178G>C	8.37:g.103664484C>G	ENSP00000285407:p.Val60Leu		OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1375	KLF10_uc011lhj.1_Missense_Mutation_p.V49L	p.V60L	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		2	332	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		60					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.178G>C	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	C	1.112	-0.657935	0.03454	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.09538	2.97;3.03	6.01	-0.41	0.12374	.	0.912766	0.09450	N	0.800589	T	0.01835	0.0058	N	0.00413	-1.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44205	-0.9343	10	0.02654	T	1	.	2.3237	0.04217	0.1996:0.187:0.4526:0.1608	.	60;49	Q13118;O75411	KLF10_HUMAN;.	L	60;49	ENSP00000285407:V60L;ENSP00000379222:V49L	ENSP00000285407:V60L	V	-	1	0	KLF10	103733660	0.040000	0.19996	0.896000	0.35187	0.949000	0.60115	-0.008000	0.12788	-0.019000	0.14055	-0.312000	0.09012	GTT		PASS	0.383	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			8	82	8	82	---	---	---	---
RAD21	5885	broad.mit.edu	37	8	117869513	117869513	+	Silent	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:117869513T>C	ENST00000297338.2	-	6	968	c.681A>G	c.(679-681)ggA>ggG	p.G227G	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	227					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G227G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TACCTAATATTCCACCATCAT	0.323																																						uc003yod.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(679-681)GGA>GGG		RAD21 homolog							182.0	181.0	182.0					8																	117869513		2203	4300	6503	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117869513T>C	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.681A>G	8.37:g.117869513T>C							p.G227G	NM_006265	NP_006256	O60216	RAD21_HUMAN			6	969	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		227					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.681A>G	CCDS6321.1																																																																																				PASS	0.323	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		30	35	30	35	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964361	123964361	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:123964361A>T	ENST00000314393.4	+	3	1446	c.611A>T	c.(610-612)gAg>gTg	p.E204V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	204	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E204V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGAAGCCCGAGGAGATCACC	0.587																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(610-612)GAG>GTG		zinc fingers and homeoboxes 2							124.0	134.0	130.0					8																	123964361		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964361A>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.611A>T	8.37:g.123964361A>T	ENSP00000314709:p.Glu204Val						p.E204V	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1178	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		204			Required for homodimerization.			Missense_Mutation	SNP	ENST00000314393.4	37	c.611A>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996249	0.35226	.	.	ENSG00000178764	ENST00000314393	T	0.19806	2.12	5.63	5.63	0.86233	.	0.437392	0.25645	N	0.029259	T	0.24470	0.0593	L	0.59436	1.845	0.45403	D	0.998381	P	0.47409	0.895	B	0.40410	0.328	T	0.02398	-1.1165	10	0.45353	T	0.12	-18.6432	15.3164	0.74081	1.0:0.0:0.0:0.0	.	204	Q9Y6X8	ZHX2_HUMAN	V	204	ENSP00000314709:E204V	ENSP00000314709:E204V	E	+	2	0	ZHX2	124033542	1.000000	0.71417	0.991000	0.47740	0.225000	0.24961	4.605000	0.61119	2.276000	0.75962	0.454000	0.30748	GAG		PASS	0.587	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		85	86	85	86	---	---	---	---
C8orf76	84933	broad.mit.edu	37	8	124238808	124238808	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:124238808G>T	ENST00000276704.4	-	5	931	c.880C>A	c.(880-882)Cag>Aag	p.Q294K	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q262K|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	294								p.Q294K(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTCCTGCTGAGTCCTTAAG	0.433																																						uc003yqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(880-882)CAG>AAG		hypothetical protein LOC84933							91.0	85.0	87.0					8																	124238808		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124238808G>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.880C>A	8.37:g.124238808G>T	ENSP00000276704:p.Gln294Lys					C8orf76_uc003yqd.2_Missense_Mutation_p.Q262K	p.Q294K	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	911	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		294					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.880C>A	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364394	0.82463	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	5.71	5.71	0.89125	.	0.060009	0.64402	D	0.000003	T	0.78233	0.4251	M	0.68593	2.085	0.46798	D	0.999207	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.995	T	0.77803	-0.2451	9	0.51188	T	0.08	-24.7689	17.6382	0.88129	0.0:0.0:1.0:0.0	.	262;294	Q96EF9;Q96K31	.;CH076_HUMAN	K	294;262	.	ENSP00000276704:Q294K	Q	-	1	0	C8orf76	124307989	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	6.125000	0.71627	2.697000	0.92050	0.563000	0.77884	CAG		PASS	0.433	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		5	78	5	78	---	---	---	---
C8orf76	84933	broad.mit.edu	37	8	124250108	124250108	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:124250108T>C	ENST00000276704.4	-	3	338	c.287A>G	c.(286-288)cAg>cGg	p.Q96R	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q64R|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	96								p.Q96R(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGACCTTCCTGGACATCCCT	0.418																																						uc003yqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(286-288)CAG>CGG		hypothetical protein LOC84933							77.0	70.0	72.0					8																	124250108		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124250108T>C	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.287A>G	8.37:g.124250108T>C	ENSP00000276704:p.Gln96Arg					C8orf76_uc003yqd.2_Missense_Mutation_p.Q64R	p.Q96R	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	318	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		96					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.287A>G	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889745	0.33348	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	T;T	0.75821	-0.97;-0.97	5.86	3.52	0.40303	Tetratricopeptide-like helical (1);	0.234727	0.45126	D	0.000394	T	0.61060	0.2317	L	0.46885	1.475	0.32186	N	0.579667	B;B	0.32653	0.379;0.125	B;B	0.30105	0.111;0.111	T	0.62383	-0.6866	10	0.30078	T	0.28	-12.6664	5.585	0.17269	0.1282:0.1393:0.0:0.7325	.	64;96	Q96EF9;Q96K31	.;CH076_HUMAN	R	96;64	ENSP00000276704:Q96R;ENSP00000349593:Q64R	ENSP00000276704:Q96R	Q	-	2	0	C8orf76	124319289	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	0.792000	0.26929	1.043000	0.40175	0.533000	0.62120	CAG		PASS	0.418	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		8	49	8	49	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133816063	133816063	+	Splice_Site	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:133816063G>T	ENST00000395386.2	+	7	806		c.e7-1		PHF20L1_ENST00000337920.4_Splice_Site|PHF20L1_ENST00000220847.7_Splice_Site|PHF20L1_ENST00000395376.1_Splice_Site|PHF20L1_ENST00000395379.1_Splice_Site|PHF20L1_ENST00000395390.2_Splice_Site	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)	p.?(3)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTCCTTTGGAGGATTGGATAG	0.348																																						uc003ytt.2																			3	Unknown(3)		lung(3)	ovary(2)	2						c.e7-1		PHD finger protein 20-like 1 isoform 1							36.0	36.0	36.0					8																	133816063		2200	4295	6495	SO:0001630	splice_region_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133816063G>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.508-1G>T	8.37:g.133816063G>T						PHF20L1_uc003ytr.2_Splice_Site_p.D144_splice|PHF20L1_uc010mdv.2_Splice_Site_p.D144_splice|PHF20L1_uc003yts.2_Splice_Site_p.D170_splice|PHF20L1_uc011lja.1_Splice_Site_p.D144_splice|PHF20L1_uc003ytu.1_Splice_Site|PHF20L1_uc003ytv.2_Missense_Mutation_p.E8D	p.D170_splice	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		7	833	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)							A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Splice_Site	SNP	ENST00000395386.2	37	c.508_splice	CCDS6367.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.882562|3.882562	0.72294|0.72294	.|.	.|.	ENSG00000129292|ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390|ENST00000395374	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60470	.|0.2271	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.27068	.|0.167	.|B	.|0.26770	.|0.073	.|T	.|0.57528	.|-0.7796	.|7	.|0.62326	.|D	.|0.03	.|.	19.6407|19.6407	0.95757|0.95757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|8	.|G5E9D0	.|.	.|D	-1|8	.|.	.|ENSP00000378773:E8D	.|E	+|+	.|3	.|2	PHF20L1|PHF20L1	133885245|133885245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.810000|7.810000	0.86072|0.86072	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	.|GAG		PASS	0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	Intron	3	4	3	4	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164022	139164022	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:139164022G>A	ENST00000395297.1	-	13	2866	c.2696C>T	c.(2695-2697)gCa>gTa	p.A899V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	899								p.A899V(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCCTCAAGTGCTCTATGAAG	0.463										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2695-2697)GCA>GTA		hypothetical protein LOC51059							131.0	127.0	128.0					8																	139164022		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164022G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2696C>T	8.37:g.139164022G>A	ENSP00000378710:p.Ala899Val	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.A800V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A461V|FAM135B_uc003yvb.2_Missense_Mutation_p.A461V	p.A899V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2867	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		899					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2696C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	7.671	0.687078	0.14973	.	.	ENSG00000147724	ENST00000395297	T	0.14640	2.49	5.33	-4.37	0.03633	.	1.933770	0.02078	N	0.052125	T	0.06188	0.0160	N	0.11560	0.145	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.0	B;B;B	0.12156	0.007;0.003;0.001	T	0.28744	-1.0034	10	0.27785	T	0.31	0.2124	1.9317	0.03328	0.1388:0.2595:0.1698:0.4318	.	899;899;899	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	V	899	ENSP00000378710:A899V	ENSP00000276737:A899V	A	-	2	0	FAM135B	139233204	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.209000	0.09358	-0.360000	0.08138	0.655000	0.94253	GCA		PASS	0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		95	67	95	67	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139277998	139277998	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:139277998G>C	ENST00000395297.1	-	4	415	c.245C>G	c.(244-246)cCc>cGc	p.P82R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	82								p.P82R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCATTTATGGGTACCTCTTC	0.488										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(244-246)CCC>CGC		hypothetical protein LOC51059							105.0	102.0	103.0					8																	139277998		1939	4158	6097	SO:0001583	missense	51059							g.chr8:139277998G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.245C>G	8.37:g.139277998G>C	ENSP00000378710:p.Pro82Arg	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.P82R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	416	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		82					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.245C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	8.461	0.855280	0.17106	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.14022	2.54	5.92	2.76	0.32466	.	0.455228	0.18608	U	0.136239	T	0.07683	0.0193	L	0.28192	0.835	0.09310	N	0.999997	P	0.37864	0.61	B	0.33690	0.168	T	0.30327	-0.9982	10	0.15066	T	0.55	-6.1751	8.3537	0.32318	0.2791:0.0:0.7209:0.0	.	82	Q49AJ0	F135B_HUMAN	R	82	ENSP00000378710:P82R	ENSP00000160713:P82R	P	-	2	0	FAM135B	139347180	0.971000	0.33674	0.991000	0.47740	0.527000	0.34593	2.864000	0.48404	0.857000	0.35407	-0.140000	0.14226	CCC		PASS	0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		9	50	9	50	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139323156	139323156	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:139323156G>T	ENST00000395297.1	-	3	255	c.85C>A	c.(85-87)Cag>Aag	p.Q29K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	29								p.Q29K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCGGATCTGGTAATACCTA	0.473										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(85-87)CAG>AAG		hypothetical protein LOC51059							72.0	69.0	70.0					8																	139323156		1924	4129	6053	SO:0001583	missense	51059							g.chr8:139323156G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.85C>A	8.37:g.139323156G>T	ENSP00000378710:p.Gln29Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.Q29K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		3	256	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		29					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.85C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816288	0.70912	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.19105	2.17	5.01	5.01	0.66863	.	0.000000	0.52532	U	0.000072	T	0.33352	0.0860	M	0.80183	2.485	0.40018	D	0.975372	P	0.51791	0.948	P	0.46237	0.508	T	0.22277	-1.0221	10	0.49607	T	0.09	-3.9002	13.9888	0.64353	0.0:0.0:1.0:0.0	.	29	Q49AJ0	F135B_HUMAN	K	29	ENSP00000378710:Q29K	ENSP00000160713:Q29K	Q	-	1	0	FAM135B	139392338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.678000	0.61641	2.771000	0.95319	0.591000	0.81541	CAG		PASS	0.473	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		6	75	6	75	---	---	---	---
ZNF16	7564	broad.mit.edu	37	8	146156985	146156985	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr8:146156985C>T	ENST00000276816.4	-	4	1374	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	ZNF16_ENST00000394909.2_Silent_p.Q396Q	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	396					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.Q396Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGTGGACCCTCTGGTGCTTCC	0.532																																						uc003zet.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1186-1188)CAG>CAA		zinc finger protein 16							93.0	91.0	92.0					8																	146156985		2203	4300	6503	SO:0001819	synonymous_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156985C>T	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1188G>A	8.37:g.146156985C>T						ZNF16_uc003zeu.2_Silent_p.Q396Q	p.Q396Q	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1375	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	396			C2H2-type 7.		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	c.1188G>A	CCDS6437.1																																																																																				PASS	0.532	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		24	91	24	91	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15744423	15744423	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:15744423G>T	ENST00000380701.3	+	17	2530	c.2202G>T	c.(2200-2202)atG>atT	p.M734I	CCDC171_ENST00000297641.3_Missense_Mutation_p.M734I	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	734								p.M1I(1)|p.M734I(1)									GTGCATTAATGGCTGGTGCCT	0.453																																						uc003zmd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2200-2202)ATG>ATT		hypothetical protein LOC203238							129.0	131.0	130.0					9																	15744423		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15744423G>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2202G>T	9.37:g.15744423G>T	ENSP00000370077:p.Met734Ile					C9orf93_uc010mih.1_Missense_Mutation_p.M742I|C9orf93_uc003zme.2_Missense_Mutation_p.M649I|C9orf93_uc011lmu.1_Missense_Mutation_p.M742I|C9orf93_uc003zmf.1_Missense_Mutation_p.M42I	p.M734I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	17	2517	+			734					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.2202G>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813797	0.70912	.	.	ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701	T;T	0.15139	2.45;2.46	5.62	5.62	0.85841	.	0.048581	0.85682	D	0.000000	T	0.13543	0.0328	L	0.27053	0.805	0.80722	D	1	P;P;P;P	0.39022	0.655;0.655;0.524;0.655	B;B;B;B	0.35039	0.194;0.194;0.057;0.121	T	0.02263	-1.1186	10	0.66056	D	0.02	-16.5135	15.1593	0.72771	0.0696:0.0:0.9304:0.0	.	742;734;1;734	B7ZM22;Q6TFL3-3;A6NK04;Q6TFL3	.;.;.;CI093_HUMAN	I	734;1;734	ENSP00000297641:M734I;ENSP00000370077:M734I	ENSP00000297641:M734I	M	+	3	0	C9orf93	15734423	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.022000	0.64078	2.809000	0.96659	0.467000	0.42956	ATG		PASS	0.453	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		4	33	4	33	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630224	32630224	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:32630224G>T	ENST00000242310.4	-	1	5443	c.5354C>A	c.(5353-5355)cCt>cAt	p.P1785H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1785					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.P1785H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCAGAGAAAGGATTGTCTCC	0.458																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(5353-5355)CCT>CAT		TBP-associated factor RNA polymerase 1-like							270.0	226.0	241.0					9																	32630224		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630224G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5354C>A	9.37:g.32630224G>T	ENSP00000418379:p.Pro1785His						p.P1785H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5444	-			1785					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5354C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854377	0.51270	.	.	ENSG00000122728	ENST00000242310	T	0.10573	2.86	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.62723	1.935	0.44862	D	0.99787	D	0.89917	1.0	D	0.91635	0.999	T	0.00847	-1.1542	10	0.62326	D	0.03	.	8.1579	0.31180	0.0:0.0:1.0:0.0	.	1785	Q8IZX4	TAF1L_HUMAN	H	1785	ENSP00000418379:P1785H	ENSP00000418379:P1785H	P	-	2	0	TAF1L	32620224	1.000000	0.71417	0.677000	0.29947	0.249000	0.25844	2.514000	0.45503	0.507000	0.28148	0.195000	0.17529	CCT		PASS	0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			6	82	6	82	---	---	---	---
CCIN	881	broad.mit.edu	37	9	36169849	36169849	+	Missense_Mutation	SNP	G	G	T	rs547325705		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:36169849G>T	ENST00000335119.2	+	1	461	c.350G>T	c.(349-351)cGa>cTa	p.R117L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	117	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R117L(1)|p.R117Q(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCACGCCTTCGAGTTCACTGT	0.507																																						uc003zzb.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(349-351)CGA>CTA		calicin							123.0	106.0	112.0					9																	36169849		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169849G>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.350G>T	9.37:g.36169849G>T	ENSP00000334996:p.Arg117Leu						p.R117L	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	461	+			117			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.350G>T	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205684	0.22205	.	.	ENSG00000185972	ENST00000335119	T	0.69806	-0.43	5.26	3.4	0.38934	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.136685	0.32273	N	0.006338	T	0.53077	0.1774	L	0.48986	1.54	0.18873	N	0.999986	P	0.36282	0.546	B	0.30105	0.111	T	0.50056	-0.8872	10	0.44086	T	0.13	.	7.6467	0.28325	0.1909:0.0:0.8091:0.0	.	117	Q13939	CALI_HUMAN	L	117	ENSP00000334996:R117L	ENSP00000334996:R117L	R	+	2	0	CCIN	36159849	0.121000	0.22262	0.890000	0.34922	0.900000	0.52787	0.886000	0.28241	1.358000	0.45922	-0.448000	0.05591	CGA		PASS	0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		4	63	4	63	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73151043	73151043	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:73151043G>T	ENST00000377110.3	-	25	5193	c.4950C>A	c.(4948-4950)acC>acA	p.T1650T	TRPM3_ENST00000377106.1_Silent_p.T1522T|TRPM3_ENST00000377105.1_Silent_p.T1509T|TRPM3_ENST00000357533.2_Silent_p.T1654T|TRPM3_ENST00000396285.1_Silent_p.T1509T|TRPM3_ENST00000423814.3_Silent_p.T1677T|TRPM3_ENST00000360823.2_Silent_p.T1512T|TRPM3_ENST00000396292.4_Silent_p.T1522T|TRPM3_ENST00000358082.3_Silent_p.T1512T|TRPM3_ENST00000396280.5_Silent_p.T1499T|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Silent_p.T1509T			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1675					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.T1654T(1)|p.T1650T(1)|p.T1522T(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTCTTCCTGGTGTGTGCAT	0.552																																						uc004aid.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(4948-4950)ACC>ACA		transient receptor potential cation channel,							338.0	315.0	323.0					9																	73151043		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73151043G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4950C>A	9.37:g.73151043G>T						TRPM3_uc004ahu.2_Silent_p.T1492T|TRPM3_uc004ahv.2_Silent_p.T1452T|TRPM3_uc004ahw.2_Silent_p.T1522T|TRPM3_uc004ahx.2_Silent_p.T1509T|TRPM3_uc004ahy.2_Silent_p.T1512T|TRPM3_uc004ahz.2_Silent_p.T1499T|TRPM3_uc004aia.2_Silent_p.T1497T|TRPM3_uc004aib.2_Silent_p.T1487T|TRPM3_uc004aic.2_Intron	p.T1650T	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	5194	-			1675			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	c.4950C>A	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	G	2.588	-0.295917	0.05532	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.63827	0.2544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61322	-0.7086	4	.	.	.	-26.7091	11.3714	0.49702	0.0:0.1264:0.7267:0.1469	.	.	.	.	K	1499	.	.	Q	-	1	0	TRPM3	72340863	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.863000	0.39459	2.729000	0.93468	0.655000	0.94253	CAG		PASS	0.552	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		9	217	9	217	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377583	77377583	+	Missense_Mutation	SNP	C	C	A	rs147802849		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:77377583C>A	ENST00000360774.1	-	26	4241	c.4004G>T	c.(4003-4005)aGg>aTg	p.R1335M	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1335M|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1335M|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1330M|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1330M	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1335					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.R1335M(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						GTGTGCTTGCCTGTTAGGAGA	0.438																																						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.(4003-4005)AGG>ATG		transient receptor potential cation channel,							186.0	199.0	194.0					9																	77377583		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.chr9:77377583C>A	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.4004G>T	9.37:g.77377583C>A	ENSP00000354006:p.Arg1335Met					TRPM6_uc004ajk.1_Missense_Mutation_p.R1330M|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R291M	p.R1335M	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4242	-			1335			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4004G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512852	0.27123	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55052	0.63;0.63;0.63;0.63;0.54	5.8	2.94	0.34122	.	1.064520	0.07139	N	0.847027	T	0.45357	0.1338	N	0.24115	0.695	0.09310	N	1	P;P;P	0.41569	0.641;0.643;0.755	B;B;B	0.41202	0.19;0.35;0.35	T	0.39663	-0.9603	10	0.45353	T	0.12	.	13.9747	0.64265	0.0:0.6265:0.313:0.0605	.	1335;1330;1330	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	M	1335;1335;1330;1330;1335;998;998	ENSP00000354006:R1335M;ENSP00000407341:R1335M;ENSP00000396672:R1330M;ENSP00000354962:R1330M;ENSP00000366060:R1335M	ENSP00000309693:R998M	R	-	2	0	TRPM6	76567403	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.526000	0.22971	0.106000	0.17784	-1.822000	0.00598	AGG		PASS	0.438	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		70	59	70	59	---	---	---	---
NUTM2G	441457	broad.mit.edu	37	9	99699593	99699593	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:99699593G>A	ENST00000372322.3	+	5	1251	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Silent_p.V410V	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	410								p.V410V(2)									AGGGCAAAGTGGAGCAGCCGC	0.592																																						uc004awq.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1228-1230)GTG>GTA		hypothetical protein LOC441457							70.0	87.0	81.0					9																	99699593		1978	4153	6131	SO:0001819	synonymous_variant	441457							g.chr9:99699593G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1230G>A	9.37:g.99699593G>A						HIATL2_uc004awr.1_Intron	p.V410V	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			5	1945	+		Acute lymphoblastic leukemia(62;0.0527)	410					A6NNI5|Q5VZR3	Silent	SNP	ENST00000372322.3	37	c.1230G>A	CCDS55329.1																																																																																				PASS	0.592	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		15	20	15	20	---	---	---	---
SLC31A1	1317	broad.mit.edu	37	9	116021055	116021055	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:116021055G>T	ENST00000374212.4	+	4	436	c.284G>T	c.(283-285)cGt>cTt	p.R95L	CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.R95L	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	95					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)	p.R95L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGCCTGCTGCGTAAGTCACAA	0.448																																					Ovarian(135;1049 1799 4519 17564 28677)	uc004bgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CGT>CTT		solute carrier family 31 (copper transporters),							157.0	138.0	144.0					9																	116021055		2203	4300	6503	SO:0001583	missense	1317					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:116021055G>T	U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"""Solute carriers"""	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.284G>T	9.37:g.116021055G>T	ENSP00000363329:p.Arg95Leu					FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.3_Missense_Mutation_p.R95L	p.R95L	NM_001859	NP_001850	O15431	COPT1_HUMAN			4	470	+			95			Cytoplasmic (Potential).		A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	c.284G>T	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660045	0.88154	.	.	ENSG00000136868	ENST00000374212;ENST00000374210	T;T	0.77750	-1.12;-1.12	5.82	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.961	D;P	0.67548	0.952;0.591	D	0.85682	0.1301	10	0.41790	T	0.15	-16.0784	14.2041	0.65724	0.0717:0.0:0.9283:0.0	.	95;95	Q5T1M3;O15431	.;COPT1_HUMAN	L	95	ENSP00000363329:R95L;ENSP00000363327:R95L	ENSP00000363327:R95L	R	+	2	0	SLC31A1	115060876	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.102000	0.94226	1.458000	0.47871	0.650000	0.86243	CGT		PASS	0.448	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		4	49	4	49	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475065	120475065	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:120475065C>A	ENST00000355622.6	+	3	760	c.659C>A	c.(658-660)cCa>cAa	p.P220Q	TLR4_ENST00000394487.4_Missense_Mutation_p.P180Q|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	220					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.P220Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTTATCCAACCAGGTGCATTT	0.353																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(658-660)CCA>CAA		toll-like receptor 4 precursor							54.0	59.0	57.0					9																	120475065		2188	4295	6483	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475065C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.659C>A	9.37:g.120475065C>A	ENSP00000363089:p.Pro220Gln					TLR4_uc004bka.2_Missense_Mutation_p.P180Q|TLR4_uc004bkb.2_Missense_Mutation_p.P20Q	p.P220Q	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	950	+			220			LRR 7.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.659C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837412	0.32513	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.43294	1.25;0.95	5.49	2.59	0.31030	.	0.398819	0.24412	N	0.038747	T	0.50411	0.1614	M	0.68593	2.085	0.09310	N	1	P	0.47253	0.892	P	0.56700	0.804	T	0.39542	-0.9609	10	0.66056	D	0.02	.	4.6556	0.12615	0.1304:0.6147:0.1263:0.1287	.	220	O00206	TLR4_HUMAN	Q	180;220	ENSP00000377997:P180Q;ENSP00000363089:P220Q	ENSP00000363089:P220Q	P	+	2	0	TLR4	119514886	0.897000	0.30589	0.011000	0.14972	0.415000	0.31203	0.525000	0.22956	0.641000	0.30601	0.655000	0.94253	CCA		PASS	0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		19	19	19	19	---	---	---	---
OR1L3	26735	broad.mit.edu	37	9	125437632	125437632	+	Missense_Mutation	SNP	C	C	G	rs372085770		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:125437632C>G	ENST00000304820.2	+	1	318	c.224C>G	c.(223-225)aCa>aGa	p.T75R		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T75R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGCTACACAACAGTCATAGTC	0.398																																						uc011lzb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(223-225)ACA>AGA		olfactory receptor, family 1, subfamily L,		C	ARG/THR	0,4406		0,0,2203	175.0	168.0	170.0		224	3.6	0.6	9		170	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1L3	NM_001005234.1	71	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	75/325	125437632	1,13005	2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125437632C>G		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.224C>G	9.37:g.125437632C>G	ENSP00000302863:p.Thr75Arg						p.T75R	NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN			1	224	+			75			Helical; Name=2; (Potential).		B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.224C>G	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410270	0.62399	0.0	1.16E-4	ENSG00000171481	ENST00000304820	T	0.00402	7.56	4.54	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.189458	0.25540	U	0.029969	T	0.01353	0.0044	H	0.94734	3.575	0.09310	N	0.999999	P	0.49185	0.92	P	0.55345	0.774	T	0.06625	-1.0816	10	0.87932	D	0	-1.2994	13.4673	0.61263	0.1576:0.8424:0.0:0.0	.	75	Q8NH93	OR1L3_HUMAN	R	75	ENSP00000302863:T75R	ENSP00000302863:T75R	T	+	2	0	OR1L3	124477453	0.006000	0.16342	0.646000	0.29493	0.996000	0.88848	2.253000	0.43205	1.263000	0.44181	0.644000	0.83932	ACA		PASS	0.398	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			30	79	30	79	---	---	---	---
LCN1	3933	broad.mit.edu	37	9	138416976	138416976	+	Splice_Site	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:138416976A>G	ENST00000263598.2	+	6	565		c.e6-1		LCN1_ENST00000371781.3_Splice_Site	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1						negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CTTTTCCTGCAGAAACCTGCT	0.567																																						uc004cfz.1																			1	Unknown(1)		lung(1)		0						c.e6-2		lipocalin 1 precursor							99.0	107.0	104.0					9																	138416976		2203	4300	6503	SO:0001630	splice_region_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138416976A>G		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.506-1A>G	9.37:g.138416976A>G						LCN1_uc004cga.1_Splice_Site_p.E169_splice	p.E169_splice	NM_002297	NP_002288	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	6	564	+		Myeloproliferative disorder(178;0.0511)						Q5T8A1	Splice_Site	SNP	ENST00000263598.2	37	c.506_splice	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775545	0.49786	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	.	.	.	3.44	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6023	0.33751	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LCN1	137556797	0.097000	0.21791	0.548000	0.28192	0.567000	0.35839	2.198000	0.42705	1.799000	0.52666	0.519000	0.50382	.		PASS	0.567	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297	Intron	22	25	22	25	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139333230	139333230	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:139333230C>A	ENST00000371712.3	-	1	1044	c.642G>T	c.(640-642)tcG>tcT	p.S214S	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S214S(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CTGCAAGATCCGAGTCGACCT	0.731																																						uc004cho.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(640-642)TCG>TCT		inositol polyphosphate-5-phosphatase E							21.0	24.0	23.0					9																	139333230		2199	4299	6498	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333230C>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.642G>T	9.37:g.139333230C>A						INPP5E_uc010nbm.2_Silent_p.S214S	p.S214S	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	1027	-		Myeloproliferative disorder(178;0.0511)	214			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.642G>T	CCDS7000.1																																																																																				PASS	0.731	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		8	4	8	4	---	---	---	---
NSMF	26012	broad.mit.edu	37	9	140352952	140352952	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:140352952G>T	ENST00000371475.3	-	2	352	c.121C>A	c.(121-123)Cgc>Agc	p.R41S	NSMF_ENST00000339554.3_5'Flank|NSMF_ENST00000371474.3_Missense_Mutation_p.R41S|NSMF_ENST00000265663.7_Missense_Mutation_p.R41S|NSMF_ENST00000392812.4_Missense_Mutation_p.R41S|PNPLA7_ENST00000492278.1_5'Flank|NSMF_ENST00000371472.2_Missense_Mutation_p.R41S|NSMF_ENST00000371473.3_Missense_Mutation_p.R41S|NSMF_ENST00000437259.1_Missense_Mutation_p.R41S	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	41	Necessary and sufficient to elicit dendritic processes and synaptic contacts. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)	p.R41S(1)									GCGCCGTTGCGGTTCTCAGGG	0.692																																						uc004cna.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)CGC>AGC		nasal embryonic LHRH factor isoform a							35.0	33.0	34.0					9																	140352952		2178	4291	6469	SO:0001583	missense	26012					nucleus|plasma membrane		g.chr9:140352952G>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.121C>A	9.37:g.140352952G>T	ENSP00000360530:p.Arg41Ser					C9orf167_uc011mew.1_Intron|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_5'Flank|NELF_uc011mez.1_Missense_Mutation_p.R41S|NELF_uc004cmz.2_Missense_Mutation_p.R41S|NELF_uc004cnc.2_Missense_Mutation_p.R41S|NELF_uc004cnb.2_Missense_Mutation_p.R41S	p.R41S	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)	2	353	-	all_cancers(76;0.0926)		41					Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.121C>A	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	g	20.0	3.930317	0.73327	.	.	ENSG00000165802	ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472	T;T;T;T;T;T;T	0.57107	0.54;0.53;0.42;0.42;0.42;0.44;0.53	3.38	3.38	0.38709	.	0.083095	0.48286	U	0.000181	T	0.56731	0.2005	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.75484	0.986;0.986;0.986;0.986;0.986	T	0.55915	-0.8065	10	0.48119	T	0.1	.	8.0429	0.30532	0.0:0.0:0.7578:0.2421	.	41;41;41;41;41	Q6X4W1-3;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;NELF_HUMAN;.	S	41	ENSP00000360530:R41S;ENSP00000265663:R41S;ENSP00000412007:R41S;ENSP00000376559:R41S;ENSP00000360529:R41S;ENSP00000360528:R41S;ENSP00000360527:R41S	ENSP00000265663:R41S	R	-	1	0	NELF	139472773	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	2.028000	0.41088	1.441000	0.47550	0.462000	0.41574	CGC		PASS	0.692	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		3	3	3	3	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1043236	1043236	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:1043236C>A	ENST00000360803.4	+	5	631	c.549C>A	c.(547-549)agC>agA	p.S183R	GTPBP4_ENST00000545048.1_Missense_Mutation_p.S136R|GTPBP4_ENST00000538293.1_Missense_Mutation_p.S67R|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	183	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				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.S183R(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)		GGAAGTCCAGCTTCATCAACA	0.458																																						uc001ift.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(547-549)AGC>AGA		G protein-binding protein CRFG							173.0	161.0	165.0					10																	1043236		2203	4300	6503	SO:0001583	missense	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.chr10:1043236C>A	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.549C>A	10.37:g.1043236C>A	ENSP00000354040:p.Ser183Arg					GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.S67R|GTPBP4_uc010qae.1_Missense_Mutation_p.S136R	p.S183R	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)	5	620	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	183					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.549C>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663434	0.47572	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000360059;ENST00000545048	T;T;T;T	0.53640	2.0;0.61;2.0;2.0	5.68	3.51	0.40186	Small GTP-binding protein domain (1);GTP1/OBG (1);	0.080071	0.85682	D	0.000000	T	0.76659	0.4018	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84637	0.0693	10	0.87932	D	0	-16.4022	14.1582	0.65430	0.0:0.8563:0.0:0.1437	.	183	Q9BZE4	NOG1_HUMAN	R	183;67;136;136	ENSP00000354040:S183R;ENSP00000444277:S67R;ENSP00000353168:S136R;ENSP00000445473:S136R	ENSP00000353168:S136R	S	+	3	2	GTPBP4	1033236	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	2.702000	0.47102	1.389000	0.46526	-0.355000	0.07637	AGC		PASS	0.458	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		24	74	24	74	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29812458	29812458	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:29812458A>C	ENST00000355867.4	-	15	3837	c.3085T>G	c.(3085-3087)Ttg>Gtg	p.L1029V	SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375400.3_Missense_Mutation_p.L603V|SVIL_ENST00000375398.2_Missense_Mutation_p.L1029V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1029					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.L1029V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTCAAGTCCAAGTTTCCTTGT	0.498																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(3085-3087)TTG>GTG		supervillin isoform 2							113.0	111.0	111.0					10																	29812458		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812458A>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3085T>G	10.37:g.29812458A>C	ENSP00000348128:p.Leu1029Val					SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.L603V	p.L1029V	NM_021738	NP_068506	O95425	SVIL_HUMAN			15	3838	-		Breast(68;0.103)	1029					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3085T>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.328440	0.01309	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.11385	2.78;2.84;2.84	5.01	0.535	0.17133	.	2.595140	0.01208	N	0.007762	T	0.08537	0.0212	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.30090	-0.9990	9	.	.	.	0.8423	4.9704	0.14113	0.296:0.3117:0.3922:0.0	.	603;1029	O95425-2;O95425	.;SVIL_HUMAN	V	603;1029;1029	ENSP00000364549:L603V;ENSP00000364547:L1029V;ENSP00000348128:L1029V	.	L	-	1	2	SVIL	29852464	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	0.312000	0.19397	-0.103000	0.12175	0.455000	0.32223	TTG		PASS	0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			14	19	14	19	---	---	---	---
ZNF239	8187	broad.mit.edu	37	10	44052891	44052891	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:44052891C>A	ENST00000306006.6	-	2	1289	c.637G>T	c.(637-639)Ggt>Tgt	p.G213C	ZNF239_ENST00000374446.2_Missense_Mutation_p.G213C|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000426961.1_Missense_Mutation_p.G213C|ZNF239_ENST00000535642.1_Missense_Mutation_p.G213C	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	213					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.G213C(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAGTTCTTACCACACTGACTA	0.423																																						uc001jaw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)GGT>TGT		zinc finger protein 239							111.0	106.0	108.0					10																	44052891		2047	4220	6267	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052891C>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.637G>T	10.37:g.44052891C>A	ENSP00000307774:p.Gly213Cys					ZNF239_uc001jax.3_Missense_Mutation_p.G213C|ZNF239_uc009xmj.2_Missense_Mutation_p.G213C|ZNF239_uc009xmk.2_Missense_Mutation_p.G213C	p.G213C	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1290	-			213			C2H2-type 1.		Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.637G>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871974	0.33069	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	3.83	-2.78	0.05859	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73329	0.3573	M	0.93016	3.37	0.27124	N	0.962053	D	0.71674	0.998	P	0.61201	0.885	T	0.64943	-0.6288	9	0.87932	D	0	-1.06	5.7824	0.18314	0.0:0.4216:0.1348:0.4436	.	213	Q16600	ZN239_HUMAN	C	213	ENSP00000307774:G213C;ENSP00000363569:G213C;ENSP00000398202:G213C;ENSP00000443907:G213C	ENSP00000307774:G213C	G	-	1	0	ZNF239	43372897	0.006000	0.16342	0.001000	0.08648	0.248000	0.25809	0.675000	0.25232	-0.597000	0.05813	-0.282000	0.10007	GGT		PASS	0.423	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			5	48	5	48	---	---	---	---
LRRC20	55222	broad.mit.edu	37	10	72061170	72061170	+	Silent	SNP	C	C	T	rs149319681		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:72061170C>T	ENST00000355790.4	-	5	972	c.495G>A	c.(493-495)ccG>ccA	p.P165P	LRRC20_ENST00000395010.1_Silent_p.P109P|LRRC20_ENST00000373224.1_Silent_p.P165P|LRRC20_ENST00000358141.2_Silent_p.P115P|LRRC20_ENST00000395011.1_Silent_p.P115P	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	165								p.P165P(1)		endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TGATGAGCGGCGGGGCGATCA	0.632																																						uc001jqx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(493-495)CCG>CCA		leucine rich repeat containing 20 isoform 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	84.0	85.0	85.0		327,345,495	-5.7	0.4	10	dbSNP_134	85	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC20	NM_018205.2,NM_018239.2,NM_207119.1	,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,	109/129,115/135,165/185	72061170	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	55222							g.chr10:72061170C>T	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.495G>A	10.37:g.72061170C>T						LRRC20_uc001jqy.1_Silent_p.P109P|LRRC20_uc001jqz.1_Silent_p.P115P	p.P165P	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN			5	717	-			165			LRR 5.		Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Silent	SNP	ENST00000355790.4	37	c.495G>A	CCDS7302.1																																																																																				PASS	0.632	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048510.1	NM_018239		34	15	34	15	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717678	89717678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:89717678G>T	ENST00000371953.3	+	7	2060	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	235	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.E235*(5)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.E235fs*9(1)|p.E235fs*25(1)|p.R234fs*9(1)|p.R233fs*20(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACACGACGGGAAGACAAGTT	0.418		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		57	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Nonsense(5)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.E235*(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.E235fs*9(1)|p.G165_K342del(1)|p.E235fs*25(1)|p.E235G(1)|p.R234fs*9(1)|p.R233fs*20(1)	prostate(16)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(7)|lung(6)|skin(6)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(703-705)GAA>TAA		phosphatase and tensin homolog							156.0	133.0	141.0					10																	89717678		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717678G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.703G>T	10.37:g.89717678G>T	ENSP00000361021:p.Glu235*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.E235*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1734	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	235			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.703G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	49	15.122235	0.99823	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.114584	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.0361	12.0395	0.53444	0.0796:0.0:0.9204:0.0	.	.	.	.	X	235	.	.	E	+	1	0	PTEN	89707658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.646000	0.83445	2.380000	0.81148	0.585000	0.79938	GAA		PASS	0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		36	24	36	24	---	---	---	---
IFIT3	3437	broad.mit.edu	37	10	91099511	91099511	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:91099511C>A	ENST00000371818.4	+	2	1279	c.1099C>A	c.(1099-1101)Ctt>Att	p.L367I	IFIT3_ENST00000371811.4_Missense_Mutation_p.L367I|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	367					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)	p.L367I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTACTGCAACCTTCAGAAATA	0.433																																						uc001kgf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1099-1101)CTT>ATT		interferon-induced protein with							76.0	74.0	75.0					10																	91099511		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099511C>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1099C>A	10.37:g.91099511C>A	ENSP00000360883:p.Leu367Ile					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.L367I	p.L367I	NM_001549	NP_001540	O14879	IFIT3_HUMAN			2	1328	+			367					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.1099C>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466327	0.26335	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.11930	2.73;2.73	4.48	-1.31	0.09230	.	0.693735	0.14620	N	0.308470	T	0.06554	0.0168	N	0.22421	0.69	0.09310	N	1	B	0.28552	0.215	B	0.25987	0.065	T	0.31392	-0.9945	10	0.87932	D	0	3.0002	0.1196	0.00064	0.3119:0.2384:0.1592:0.2905	.	367	O14879	IFIT3_HUMAN	I	367;367;188	ENSP00000360883:L367I;ENSP00000360876:L367I	ENSP00000360876:L367I	L	+	1	0	IFIT3	91089491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.161000	0.16481	-0.213000	0.10094	-0.868000	0.02995	CTT		PASS	0.433	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		71	31	71	31	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91486250	91486250	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:91486250C>A	ENST00000371728.3	+	16	2267	c.2202C>A	c.(2200-2202)acC>acA	p.T734T	KIF20B_ENST00000416354.1_Silent_p.T734T|KIF20B_ENST00000394289.2_Silent_p.T734T|KIF20B_ENST00000260753.4_Silent_p.T694T|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	734					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.T694T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TAATCAAAACCAAAGAAGAGT	0.303																																						uc001kgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2200-2202)ACC>ACA		M-phase phosphoprotein 1							34.0	32.0	33.0					10																	91486250		2198	4294	6492	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91486250C>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2202C>A	10.37:g.91486250C>A						KIF20B_uc001kgr.1_Silent_p.T694T|KIF20B_uc001kgt.1_5'UTR	p.T734T	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			16	2274	+			734			Potential.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.2202C>A																																																																																					PASS	0.303	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		4	22	4	22	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102262016	102262016	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:102262016G>T	ENST00000370345.3	-	11	1502	c.1405C>A	c.(1405-1407)Ctg>Atg	p.L469M	SEC31B_ENST00000451524.1_Missense_Mutation_p.L469M|SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	469					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.L469M(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCACCTTCAGGAACTGCCAC	0.512																																						uc001krc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1405-1407)CTG>ATG		SEC31 homolog B							102.0	91.0	95.0					10																	102262016		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102262016G>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1405C>A	10.37:g.102262016G>T	ENSP00000359370:p.Leu469Met					SEC31B_uc010qpo.1_Missense_Mutation_p.L468M|SEC31B_uc001krd.1_Translation_Start_Site|SEC31B_uc001krf.1_Translation_Start_Site|SEC31B_uc001kre.1_Translation_Start_Site|SEC31B_uc001krg.1_Missense_Mutation_p.L38M	p.L469M	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	11	1507	-		Colorectal(252;0.117)	469					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1405C>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635115	0.67130	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.67865	-0.21;-0.29	5.39	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82944	-0.0206	10	0.87932	D	0	-9.1834	11.2602	0.49078	0.1528:0.0:0.8472:0.0	.	468;469	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	M	469	ENSP00000359370:L469M;ENSP00000391178:L469M	ENSP00000359370:L469M	L	-	1	2	SEC31B	102252006	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.528000	0.45624	1.286000	0.44565	0.486000	0.48141	CTG		PASS	0.512	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		7	140	7	140	---	---	---	---
SFXN2	118980	broad.mit.edu	37	10	104491932	104491932	+	Silent	SNP	C	C	A	rs139737561	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:104491932C>A	ENST00000369893.5	+	8	845	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	226					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.T226T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TAGGCATCACCCAAGTAGTTA	0.532																																						uc001kwb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(676-678)ACC>ACA		sideroflexin 2							143.0	131.0	135.0					10																	104491932		2203	4300	6503	SO:0001819	synonymous_variant	118980				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr10:104491932C>A	AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.678C>A	10.37:g.104491932C>A						SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	p.T226T	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	844	+		Colorectal(252;0.207)	226					Q5JSM6	Silent	SNP	ENST00000369893.5	37	c.678C>A	CCDS7539.1																																																																																				PASS	0.532	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359		6	92	6	92	---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104679115	104679115	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:104679115G>T	ENST00000369878.4	+	1	1066	c.878G>T	c.(877-879)tGc>tTc	p.C293F	CNNM2_ENST00000369875.3_Missense_Mutation_p.C293F|CNNM2_ENST00000433628.2_Missense_Mutation_p.C293F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	293	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.C293F(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTGCAGAACTGCGGCACGGAG	0.622																																						uc001kwm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(877-879)TGC>TTC		cyclin M2 isoform 1							47.0	45.0	46.0					10																	104679115		2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679115G>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.878G>T	10.37:g.104679115G>T	ENSP00000358894:p.Cys293Phe					CNNM2_uc001kwn.2_Missense_Mutation_p.C293F|CNNM2_uc001kwl.2_Missense_Mutation_p.C293F	p.C293F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1002	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	293			DUF21.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.878G>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071956	0.55646	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.88124	-2.34;-2.34;-2.34	4.32	4.32	0.51571	Domain of unknown function DUF21 (1);	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	M	0.62723	1.935	0.80722	D	1	P;P;D	0.54207	0.902;0.92;0.965	B;B;P	0.60286	0.249;0.365;0.872	D	0.92600	0.6090	10	0.72032	D	0.01	.	16.7981	0.85607	0.0:0.0:1.0:0.0	.	293;293;293	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	F	293	ENSP00000392875:C293F;ENSP00000358891:C293F;ENSP00000358894:C293F	ENSP00000286899:C293F	C	+	2	0	CNNM2	104669105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	1.935000	0.56089	0.561000	0.74099	TGC		PASS	0.622	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		26	17	26	17	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105903234	105903234	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:105903234A>C	ENST00000357060.3	-	32	4223	c.4108T>G	c.(4108-4110)Tgg>Ggg	p.W1370G	WDR96_ENST00000479392.1_5'Flank|WDR96_ENST00000428666.1_Missense_Mutation_p.W1342G	NM_025145.5	NP_079421.5												p.W1370G(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAATGATTCCAGACCAAAGGG	0.343																																						uc001kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4108-4110)TGG>GGG		hypothetical protein LOC80217							122.0	116.0	118.0					10																	105903234		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105903234A>C																												ENST00000357060.3:c.4108T>G	10.37:g.105903234A>C	ENSP00000349568:p.Trp1370Gly					C10orf79_uc009xxq.2_Missense_Mutation_p.W649G	p.W1370G	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	32	4224	-		Colorectal(252;0.178)	1370						Missense_Mutation	SNP	ENST00000357060.3	37	c.4108T>G	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856236	0.51376	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.54279	0.93;0.58	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79320	-0.1852	10	0.87932	D	0	.	15.9576	0.79898	1.0:0.0:0.0:0.0	.	1342;1370	G5E9L1;Q8NDM7	.;WDR96_HUMAN	G	1370;1342	ENSP00000349568:W1370G;ENSP00000400289:W1342G	ENSP00000349568:W1370G	W	-	1	0	WDR96	105893224	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.668000	0.83897	2.250000	0.74265	0.454000	0.30748	TGG		PASS	0.343	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	33	11	33	---	---	---	---
CFAP58	159686	broad.mit.edu	37	10	106152087	106152087	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:106152087C>G	ENST00000369704.3	+	10	1596	c.1462C>G	c.(1462-1464)Cag>Gag	p.Q488E		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		488						extracellular space (GO:0005615)		p.Q488E(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)		AAAACAGCAACAGAACCTATA	0.323																																						uc001kyh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1462-1464)CAG>GAG		coiled-coil domain containing 147							62.0	69.0	67.0					10																	106152087		2202	4299	6501	SO:0001583	missense	159686							g.chr10:106152087C>G																												ENST00000369704.3:c.1462C>G	10.37:g.106152087C>G	ENSP00000358718:p.Gln488Glu						p.Q488E	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)	10	1596	+		Colorectal(252;0.103)|Breast(234;0.122)	488			Potential.		D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.1462C>G	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794365	0.70452	.	.	ENSG00000120051	ENST00000369704	T	0.40756	1.02	5.49	5.49	0.81192	.	0.051458	0.85682	D	0.000000	T	0.46502	0.1396	L	0.60845	1.875	0.80722	D	1	P	0.42375	0.778	P	0.45946	0.498	T	0.33599	-0.9862	10	0.07482	T	0.82	-24.9194	19.3694	0.94479	0.0:1.0:0.0:0.0	.	488	Q5T655	CC147_HUMAN	E	488	ENSP00000358718:Q488E	ENSP00000358718:Q488E	Q	+	1	0	CCDC147	106142077	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.928000	0.63447	2.590000	0.87494	0.655000	0.94253	CAG		PASS	0.323	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			10	82	10	82	---	---	---	---
AFAP1L2	84632	broad.mit.edu	37	10	116075338	116075338	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:116075338A>G	ENST00000304129.4	-	6	622	c.593T>C	c.(592-594)aTc>aCc	p.I198T	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.I198T|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.I251T			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	198	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.I216T(1)|p.I198T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTTGTCCTTGATGACACAGAG	0.632																																						uc001lbn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(592-594)ATC>ACC		KIAA1914 protein isoform 1							98.0	64.0	76.0					10																	116075338		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116075338A>G	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.593T>C	10.37:g.116075338A>G	ENSP00000303042:p.Ile198Thr					AFAP1L2_uc001lbo.2_Missense_Mutation_p.I198T|AFAP1L2_uc010qse.1_Missense_Mutation_p.I251T|AFAP1L2_uc001lbp.2_Missense_Mutation_p.I226T|AFAP1L2_uc001lbr.1_Missense_Mutation_p.I198T	p.I198T	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	6	894	-		Colorectal(252;0.175)|Breast(234;0.231)	198			PH 1.		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.593T>C	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895468	0.72639	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.18	5.18	0.71444	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.118455	0.56097	D	0.000025	D	0.84955	0.5587	M	0.70595	2.14	0.46416	D	0.999034	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.999	D;D;D;D;D	0.75484	0.977;0.986;0.982;0.957;0.975	D	0.86797	0.1989	10	0.72032	D	0.01	-24.6363	15.0223	0.71640	1.0:0.0:0.0:0.0	.	251;252;226;198;198	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	T	198;198;225;216;251;216	ENSP00000358276:I198T;ENSP00000303042:I198T;ENSP00000444511:I251T;ENSP00000396781:I216T	ENSP00000303042:I198T	I	-	2	0	AFAP1L2	116065328	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.293000	0.96082	1.950000	0.56595	0.402000	0.26972	ATC		PASS	0.632	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		5	31	5	31	---	---	---	---
FOXI2	399823	broad.mit.edu	37	10	129537185	129537185	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:129537185C>G	ENST00000388920.4	+	2	952	c.913C>G	c.(913-915)Cgc>Ggc	p.R305G		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R305G(1)|p.R121G(1)		large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CGCCGGCTTCCGCCTCAGTCA	0.697																																					Esophageal Squamous(54;1038 1280 2528 31583)	uc009yas.2																			2	Substitution - Missense(2)		lung(2)		0						c.(913-915)CGC>GGC		forkhead box I2							9.0	13.0	12.0					10																	129537185		2153	4242	6395	SO:0001583	missense	399823				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr10:129537185C>G	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.913C>G	10.37:g.129537185C>G	ENSP00000373572:p.Arg305Gly					uc009yar.1_5'Flank	p.R305G	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN			2	913	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	305						Missense_Mutation	SNP	ENST00000388920.4	37	c.913C>G	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786250	0.16189	.	.	ENSG00000186766	ENST00000388920	D	0.93076	-3.16	4.14	2.06	0.26882	.	0.117488	0.52532	D	0.000074	D	0.84964	0.5589	L	0.32530	0.975	0.23120	N	0.998263	B	0.32160	0.358	B	0.28709	0.093	T	0.76380	-0.2980	10	0.52906	T	0.07	.	2.4968	0.04623	0.2033:0.5074:0.1818:0.1075	.	305	Q6ZQN5	FOXI2_HUMAN	G	305	ENSP00000373572:R305G	ENSP00000373572:R305G	R	+	1	0	FOXI2	129427175	0.658000	0.27402	0.951000	0.38953	0.499000	0.33736	0.440000	0.21592	0.883000	0.36040	0.555000	0.69702	CGC		PASS	0.697	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		3	1	3	1	---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133976837	133976837	+	Missense_Mutation	SNP	G	G	T	rs376017609		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr10:133976837G>T	ENST00000298622.4	+	19	2477	c.2339G>T	c.(2338-2340)cGc>cTc	p.R780L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	780						Golgi apparatus (GO:0005794)		p.R780L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTGGAAGCGCCAGGTCATG	0.672																																						uc001lkx.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2338-2340)CGC>CTC		Janus kinase and microtubule interacting protein							58.0	42.0	47.0					10																	133976837		2202	4297	6499	SO:0001583	missense	282973							g.chr10:133976837G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2339G>T	10.37:g.133976837G>T	ENSP00000298622:p.Arg780Leu					JAKMIP3_uc009yba.1_Missense_Mutation_p.R217L	p.R780L	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	19	2339	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.2339G>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079064	0.94050	.	.	ENSG00000188385	ENST00000298622	T	0.29655	1.56	3.77	3.77	0.43336	.	.	.	.	.	T	0.53367	0.1792	M	0.65975	2.015	0.49798	D	0.999827	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.57306	-0.7834	9	0.49607	T	0.09	.	16.1886	0.81971	0.0:0.0:1.0:0.0	.	217;780	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	L	780	ENSP00000298622:R780L	ENSP00000298622:R780L	R	+	2	0	JAKMIP3	133826827	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.019000	0.93662	2.102000	0.63906	0.460000	0.39030	CGC		PASS	0.672	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		3	10	3	10	---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7324382	7324382	+	Silent	SNP	C	C	T	rs562479190		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:7324382C>T	ENST00000318881.6	+	2	495	c.258C>T	c.(256-258)ggC>ggT	p.G86G	SYT9_ENST00000396716.2_Silent_p.G54G	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	86					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.G86G(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GAGAACGAGGCCTGCCCTCTG	0.552																																						uc001mfe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(256-258)GGC>GGT		synaptotagmin IX							203.0	184.0	190.0					11																	7324382		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324382C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.258C>T	11.37:g.7324382C>T						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.G86G	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	495	+			86			Cytoplasmic (Potential).			Silent	SNP	ENST00000318881.6	37	c.258C>T	CCDS7778.1																																																																																				PASS	0.552	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		19	65	19	65	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7818198	7818198	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:7818198C>A	ENST00000329434.2	-	1	322	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G98C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCGCTGAACCAAGCTGGATG	0.488																																						uc001mfp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(292-294)GGT>TGT		olfactory receptor, family 5, subfamily P,							99.0	117.0	111.0					11																	7818198		2103	4292	6395	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818198C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.292G>T	11.37:g.7818198C>A	ENSP00000331823:p.Gly98Cys						p.G98C	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	292	-			98			Helical; Name=3; (Potential).		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.292G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	3.242	-0.155143	0.06544	.	.	ENSG00000183303	ENST00000329434	T	0.00509	6.91	5.5	0.13	0.14746	GPCR, rhodopsin-like superfamily (1);	0.267764	0.32852	N	0.005574	T	0.00178	0.0005	N	0.01649	-0.78	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.39502	-0.9611	10	0.30854	T	0.27	-1.4882	3.9604	0.09409	0.2109:0.4571:0.0:0.332	.	98	Q8WZ92	OR5P2_HUMAN	C	98	ENSP00000331823:G98C	ENSP00000331823:G98C	G	-	1	0	OR5P2	7774774	0.002000	0.14202	0.534000	0.28014	0.053000	0.15095	0.965000	0.29319	0.167000	0.19631	-0.234000	0.12200	GGT		PASS	0.488	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		18	92	18	92	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8737260	8737260	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:8737260G>A	ENST00000534127.1	-	9	2120	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	ST5_ENST00000526757.1_Silent_p.L159L|ST5_ENST00000526099.1_Silent_p.L92L|ST5_ENST00000530991.1_Silent_p.L51L|ST5_ENST00000530438.1_Silent_p.L159L|ST5_ENST00000313726.6_Silent_p.L579L|ST5_ENST00000357665.1_Silent_p.L579L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	579					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L579L(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCCAGCAGCAGCATGTCGTCA	0.637																																						uc001mgt.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1735-1737)CTG>TTG		suppression of tumorigenicity 5 isoform 1							103.0	89.0	93.0					11																	8737260		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737260G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1735C>T	11.37:g.8737260G>A						ST5_uc009yfr.2_Silent_p.L159L|ST5_uc001mgu.2_Silent_p.L159L|ST5_uc001mgv.2_Silent_p.L579L|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Silent_p.L92L	p.L579L	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1921	-			579					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.1735C>T	CCDS7791.1																																																																																				PASS	0.637	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		13	19	13	19	---	---	---	---
MRVI1	10335	broad.mit.edu	37	11	10651189	10651189	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:10651189T>C	ENST00000436272.1	-	4	521	c.443A>G	c.(442-444)aAg>aGg	p.K148R	MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.K157R|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000552103.1_Missense_Mutation_p.K66R|MRVI1_ENST00000527509.2_Missense_Mutation_p.K66R|MRVI1_ENST00000531107.1_Missense_Mutation_p.K148R|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000547195.1_Missense_Mutation_p.K66R|MRVI1_ENST00000541483.1_Missense_Mutation_p.K157R|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.K148R|MRVI1_ENST00000532037.1_5'Flank			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	148	Interaction with PRKG1. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.K148R(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GTTTTTCTTCTTGTCCTCCTC	0.597																																						uc010rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(469-471)AAG>AGG		JAW1-related protein isoform c							69.0	76.0	74.0					11																	10651189		2066	4195	6261	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10651189T>C	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.443A>G	11.37:g.10651189T>C	ENSP00000412229:p.Lys148Arg					MRVI1_uc001miw.2_Missense_Mutation_p.K148R|MRVI1_uc010rcb.1_Missense_Mutation_p.K148R|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.K66R|MRVI1_uc009ygc.1_Missense_Mutation_p.K66R|MRVI1_uc010rcd.1_Missense_Mutation_p.K157R|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	p.K157R	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	5	856	-			148			Interaction with PRKG1 (By similarity).		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.470A>G		.	.	.	.	.	.	.	.	.	.	T	14.48	2.546873	0.45383	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.16743	3.01;2.97;2.47;2.47;2.83;2.32;3.01;2.47	5.62	5.62	0.85841	.	0.068522	0.64402	D	0.000014	T	0.14013	0.0339	L	0.43923	1.385	0.80722	D	1	P;B;B;P	0.35155	0.487;0.355;0.355;0.487	B;B;B;B	0.30943	0.122;0.057;0.057;0.122	T	0.07462	-1.0771	10	0.29301	T	0.29	-23.1037	10.9571	0.47364	0.0:0.0725:0.0:0.9275	.	157;148;148;148	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	R	148;149;148;66;66;157;157;148;66	ENSP00000414598:K148R;ENSP00000412229:K148R;ENSP00000448278:K66R;ENSP00000446764:K66R;ENSP00000412130:K157R;ENSP00000437784:K157R;ENSP00000432436:K148R;ENSP00000432067:K66R	ENSP00000307885:K149R	K	-	2	0	MRVI1	10607765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.519000	0.53458	2.137000	0.66172	0.459000	0.35465	AAG		PASS	0.597	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		4	13	4	13	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17415307	17415308	+	Splice_Site	DNP	CT	CT	AA			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:17415307_17415308CT>AA	ENST00000389817.3	-	38	4614		c.e38-1		ABCC8_ENST00000302539.4_Splice_Site			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.?(3)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGATGTTTTCCTGCCAAGTGGG	0.614																																						uc001mnc.2																			3	Unknown(3)		lung(3)	ovary(1)	1						c.e38-1		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)																																			SO:0001630	splice_region_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17415307C>A|g.chr11:17415308T>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4546_4546delinsAA	11.37:g.17415307_17415308delinsAA							p.E1516_splice	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	38	4672	-								A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	ENST00000389817.3	37	c.4546_splice	CCDS31437.1																																																																																				PASS	0.614	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Intron	25|24	48	24	48	---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741532	17741532	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:17741532C>A	ENST00000250003.3	+	1	418	c.203C>A	c.(202-204)gCg>gAg	p.A68E		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	68					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)	p.A68E(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TTCCCCGCGGCGGTGCACCCG	0.721																																						uc001mni.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(202-204)GCG>GAG		myogenic differentiation 1							16.0	17.0	16.0					11																	17741532		2196	4282	6478	SO:0001583	missense	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741532C>A	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.203C>A	11.37:g.17741532C>A	ENSP00000250003:p.Ala68Glu						p.A68E	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	423	+			68					O75321	Missense_Mutation	SNP	ENST00000250003.3	37	c.203C>A	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467621	0.43839	.	.	ENSG00000129152	ENST00000250003	D	0.97232	-4.3	5.01	5.01	0.66863	Myogenic basic muscle-specific protein (2);	0.768495	0.12323	N	0.479158	D	0.94275	0.8161	N	0.22421	0.69	0.21184	N	0.999764	P	0.43542	0.81	P	0.46940	0.532	D	0.84745	0.0753	10	0.02654	T	1	-12.1119	16.6881	0.85315	0.0:1.0:0.0:0.0	.	68	P15172	MYOD1_HUMAN	E	68	ENSP00000250003:A68E	ENSP00000250003:A68E	A	+	2	0	MYOD1	17698108	0.011000	0.17503	0.246000	0.24233	0.766000	0.43426	0.923000	0.28757	2.610000	0.88304	0.655000	0.94253	GCG		PASS	0.721	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		3	3	3	3	---	---	---	---
TSG101	7251	broad.mit.edu	37	11	18536390	18536390	+	Splice_Site	SNP	T	T	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:18536390T>G	ENST00000251968.3	-	4	609		c.e4-2		TSG101_ENST00000536719.1_Splice_Site|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ATGTATTACCTGAAAAAGAAA	0.294																																					GBM(99;1348 1396 8611 26475 50572)	uc001mor.2																			1	Unknown(1)		lung(1)		0						c.e4-1		tumor susceptibility gene 101							97.0	108.0	105.0					11																	18536390		2199	4289	6488	SO:0001630	splice_region_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18536390T>G	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.194-2A>C	11.37:g.18536390T>G						TSG101_uc001mos.1_Splice_Site_p.G13_splice|TSG101_uc009yhs.1_Intron	p.G65_splice	NM_006292	NP_006283	Q99816	TS101_HUMAN			4	320	-								Q9BUM5	Splice_Site	SNP	ENST00000251968.3	37	c.194_splice	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396421	0.25205	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1205	0.81351	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSG101	18492966	1.000000	0.71417	0.964000	0.40570	0.166000	0.22503	7.919000	0.87513	2.205000	0.71048	0.533000	0.62120	.		PASS	0.294	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292	Intron	14	33	14	33	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33564293	33564293	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:33564293G>T	ENST00000321505.4	+	1	473	c.293G>T	c.(292-294)gGa>gTa	p.G98V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G98V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G98V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	98						integral component of membrane (GO:0016021)		p.G98V(2)									GGGGTGCCTGGAAGAGTGCAC	0.527																																						uc001mup.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(292-294)GGA>GTA		hypothetical protein LOC25758							38.0	39.0	39.0					11																	33564293		1876	4112	5988	SO:0001583	missense	25758					integral to membrane		g.chr11:33564293G>T	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.293G>T	11.37:g.33564293G>T	ENSP00000315295:p.Gly98Val					C11orf41_uc001mun.1_Missense_Mutation_p.G98V	p.G98V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	417	+			98					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.293G>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	6.217	0.408201	0.11754	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.19	1.36	0.22044	.	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.22836	-1.0205	8	0.30854	T	0.27	.	0.5153	0.00602	0.444:0.171:0.2065:0.1785	.	98;98	E9PAT2;Q6ZVL6-2	.;.	V	98	.	ENSP00000265654:G98V	G	+	2	0	C11orf41	33520869	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.250000	0.18235	-0.029000	0.13827	-0.367000	0.07326	GGA		PASS	0.527	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		12	18	12	18	---	---	---	---
CD44	960	broad.mit.edu	37	11	35227670	35227670	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:35227670C>T	ENST00000428726.2	+	11	1417	c.1294C>T	c.(1294-1296)Cat>Tat	p.H432Y	CD44_ENST00000360158.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.H389Y|CD44_ENST00000433892.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.H389Y|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.H432Y|CD44_ENST00000352818.4_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.H433Y	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	432	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.H432Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGCCTCAGCTCATACCAGCCA	0.458																																						uc001mvu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1294-1296)CAT>TAT		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						162.0	123.0	136.0					11																	35227670		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227670C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1294C>T	11.37:g.35227670C>T	ENSP00000398632:p.His432Tyr					CD44_uc001mvv.2_Missense_Mutation_p.H389Y|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	p.H432Y	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		11	1728	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	432			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1294C>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.09|10.09	1.253896|1.253896	0.22965|0.22965	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110|ENST00000526553	T;T;T;T;T;T;T|.	0.21543|.	2.19;2.19;2.19;2.19;2.19;2.0;2.19|.	4.87|4.87	3.91|3.91	0.45181|0.45181	.|.	0.579306|.	0.16722|.	N|.	0.202229|.	T|T	0.46964|0.46964	0.1420|0.1420	M|M	0.64997|0.64997	1.995|1.995	0.22081|0.22081	N|N	0.999379|0.999379	B;B|.	0.12013|.	0.005;0.003|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.35276|0.35276	-0.9795|-0.9795	10|5	0.02654|.	T|.	1|.	-7.5943|-7.5943	8.3639|8.3639	0.32374|0.32374	0.0:0.8853:0.0:0.1147|0.0:0.8853:0.0:0.1147	.|.	389;432|.	P16070-4;P16070|.	.;CD44_HUMAN|.	Y|L	389;433;389;432;432;206;144|84	ENSP00000389830:H389Y;ENSP00000414567:H433Y;ENSP00000391008:H389Y;ENSP00000403990:H432Y;ENSP00000398632:H432Y;ENSP00000432405:H206Y;ENSP00000436549:H144Y|.	ENSP00000389830:H389Y|.	H|S	+|+	1|2	0|0	CD44|CD44	35184246|35184246	0.003000|0.003000	0.15002|0.15002	0.032000|0.032000	0.17829|0.17829	0.001000|0.001000	0.01503|0.01503	1.225000|1.225000	0.32551|0.32551	1.315000|1.315000	0.45114|0.45114	-0.345000|-0.345000	0.07892|0.07892	CAT|TCA		PASS	0.458	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		11	37	11	37	---	---	---	---
OR4B1	119765	broad.mit.edu	37	11	48238439	48238439	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:48238439T>A	ENST00000309562.2	+	1	96	c.78T>A	c.(76-78)ttT>ttA	p.F26L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	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)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGTATGCTTTGTGGTGTTTC	0.498																																						uc010rhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(76-78)TTT>TTA		olfactory receptor, family 4, subfamily B,							251.0	205.0	221.0					11																	48238439		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238439T>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.78T>A	11.37:g.48238439T>A	ENSP00000311605:p.Phe26Leu						p.F26L	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	78	+			26			Helical; Name=1; (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.78T>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484507	0.44147	.	.	ENSG00000175619	ENST00000309562	T	0.04454	3.62	5.4	1.71	0.24356	.	0.000000	0.56097	D	0.000035	T	0.17746	0.0426	M	0.84846	2.72	0.34265	D	0.680358	D	0.71674	0.998	D	0.79784	0.993	T	0.08848	-1.0702	10	0.66056	D	0.02	.	4.5882	0.12294	0.0:0.2478:0.1568:0.5954	.	26	Q8NGF8	OR4B1_HUMAN	L	26	ENSP00000311605:F26L	ENSP00000311605:F26L	F	+	3	2	OR4B1	48195015	0.990000	0.36364	0.987000	0.45799	0.049000	0.14656	0.313000	0.19415	0.039000	0.15632	-0.867000	0.03001	TTT		PASS	0.498	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		9	56	9	56	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974618	49974618	+	Missense_Mutation	SNP	C	C	T	rs190982976		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:49974618C>T	ENST00000555099.1	+	1	676	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S215F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCCTGGTCTCCTGCGTGGTC	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.0					uc010rhz.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(643-645)TCC>TTC		olfactory receptor, family 4, subfamily C,							190.0	155.0	167.0					11																	49974618		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974618C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.644C>T	11.37:g.49974618C>T	ENSP00000452277:p.Ser215Phe						p.S215F	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	644	+			215			Helical; Name=5; (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.644C>T	CCDS31495.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	.	13.88	2.368476	0.42003	.	.	ENSG00000258817	ENST00000555099	T	0.42513	0.97	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000304	T	0.66036	0.2749	M	0.93898	3.47	0.39521	D	0.968518	P	0.51933	0.949	P	0.58130	0.833	T	0.76539	-0.2922	9	.	.	.	.	11.1932	0.48698	0.0:1.0:0.0:0.0	.	215	Q8NGP0	OR4CD_HUMAN	F	215	ENSP00000452277:S215F	.	S	+	2	0	OR4C13	49931194	1.000000	0.71417	0.989000	0.46669	0.028000	0.11728	5.275000	0.65575	1.524000	0.49035	0.186000	0.17326	TCC		PASS	0.488	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		21	30	21	30	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433437	55433437	+	Silent	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:55433437A>T	ENST00000314259.3	+	1	824	c.795A>T	c.(793-795)atA>atT	p.I265I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I265I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCACCCCATAGACAAGGCAA	0.473																																						uc001nht.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(793-795)ATA>ATT		olfactory receptor, family 4, subfamily C,							105.0	102.0	103.0					11																	55433437		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433437A>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.795A>T	11.37:g.55433437A>T						OR4C6_uc010rik.1_Silent_p.I265I	p.I265I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1060	+			265			Extracellular (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.795A>T	CCDS31506.1																																																																																				PASS	0.473	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		11	90	11	90	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595379	55595379	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:55595379C>T	ENST00000378397.1	+	1	685	c.685C>T	c.(685-687)Cac>Tac	p.H229Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H229Y(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCTGAAGATACACTCTGCAGA	0.493										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)CAC>TAC		olfactory receptor, family 5, subfamily L,							190.0	159.0	169.0					11																	55595379		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595379C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.685C>T	11.37:g.55595379C>T	ENSP00000367650:p.His229Tyr	HNSCC(27;0.073)					p.H229Y	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	685	+		all_epithelial(135;0.208)	229			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.685C>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	6.828	0.521904	0.13005	.	.	ENSG00000205030	ENST00000378397	T	0.37915	1.17	5.24	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	1.030750	0.07689	N	0.938325	T	0.46386	0.1390	M	0.71920	2.185	0.09310	N	1	B	0.26809	0.16	B	0.38683	0.279	T	0.50083	-0.8869	10	0.72032	D	0.01	-0.0013	8.0369	0.30496	0.0:0.7364:0.0:0.2636	.	229	Q8NGL0	OR5L2_HUMAN	Y	229	ENSP00000367650:H229Y	ENSP00000367650:H229Y	H	+	1	0	OR5L2	55351955	0.000000	0.05858	0.530000	0.27963	0.002000	0.02628	-0.885000	0.04161	0.668000	0.31126	-0.164000	0.13417	CAC		PASS	0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		28	42	28	42	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703717	55703717	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:55703717C>T	ENST00000301532.3	-	1	159	c.160G>A	c.(160-162)Gat>Aat	p.D54N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	54					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D54N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGTGAGGATCAATCCTGATC	0.398																																						uc010ris.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)GAT>AAT		olfactory receptor, family 5, subfamily I,							70.0	69.0	69.0					11																	55703717		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703717C>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.160G>A	11.37:g.55703717C>T	ENSP00000301532:p.Asp54Asn						p.D54N	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	160	-			54			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.160G>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788674	0.31685	.	.	ENSG00000167825	ENST00000301532	T	0.02837	4.14	5.05	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.132859	0.34178	N	0.004190	T	0.03434	0.0099	L	0.61387	1.9	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.35001	-0.9806	10	0.51188	T	0.08	.	4.8603	0.13581	0.1516:0.5952:0.0:0.2531	.	54	Q13606	OR5I1_HUMAN	N	54	ENSP00000301532:D54N	ENSP00000301532:D54N	D	-	1	0	OR5I1	55460293	0.000000	0.05858	0.001000	0.08648	0.984000	0.73092	-0.684000	0.05173	0.245000	0.21373	0.637000	0.83480	GAT		PASS	0.398	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		5	12	5	12	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861574	55861574	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:55861574C>T	ENST00000302124.2	+	1	822	c.791C>T	c.(790-792)aCa>aTa	p.T264I		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T264I(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CCTGATAACACATCATCGCTG	0.478																																						uc010rix.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(790-792)ACA>ATA		olfactory receptor, family 8, subfamily I,							118.0	114.0	115.0					11																	55861574		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861574C>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.791C>T	11.37:g.55861574C>T	ENSP00000303864:p.Thr264Ile						p.T264I	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	791	+	Esophageal squamous(21;0.00693)		264			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.791C>T	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557018	0.27827	.	.	ENSG00000172154	ENST00000302124	T	0.00051	8.81	4.33	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.182364	0.26307	U	0.025138	T	0.00109	0.0003	L	0.33293	1	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.33624	-0.9861	10	0.54805	T	0.06	-8.542	6.5202	0.22271	0.3089:0.598:0.0:0.093	.	264	Q8N0Y5	OR8I2_HUMAN	I	264	ENSP00000303864:T264I	ENSP00000303864:T264I	T	+	2	0	OR8I2	55618150	0.000000	0.05858	0.318000	0.25279	0.394000	0.30568	-1.351000	0.02622	-0.012000	0.14223	-0.593000	0.04111	ACA		PASS	0.478	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		9	35	9	35	---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56510796	56510796	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:56510796G>A	ENST00000302957.3	-	1	491	c.492C>T	c.(490-492)taC>taT	p.Y164Y		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y164Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATCCTCCTATGTAGGAGCCAG	0.463																																						uc010rjo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(490-492)TAC>TAT		olfactory receptor, family 9, subfamily G,							85.0	88.0	87.0					11																	56510796		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510796G>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.492C>T	11.37:g.56510796G>A							p.Y164Y	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	492	-			164			Helical; Name=4; (Potential).		Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.492C>T	CCDS31537.1																																																																																				PASS	0.463	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		37	50	37	50	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190505	58190505	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:58190505G>T	ENST00000302581.2	-	1	281	c.230C>A	c.(229-231)cCc>cAc	p.P77H		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P77H(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATGACCTTGGGAGTGACAGC	0.488																																						uc010rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(229-231)CCC>CAC		olfactory receptor, family 5, subfamily B,							126.0	113.0	117.0					11																	58190505		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190505G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.230C>A	11.37:g.58190505G>T	ENSP00000303076:p.Pro77His						p.P77H	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	230	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	77			Helical; Name=2; (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.230C>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161144	0.57368	.	.	ENSG00000172365	ENST00000302581	T	0.01871	4.59	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.226724	0.22442	U	0.060009	T	0.22820	0.0551	H	0.98155	4.16	0.45930	D	0.998764	D	0.89917	1.0	D	0.87578	0.998	T	0.45190	-0.9278	10	0.87932	D	0	-9.8173	14.7487	0.69508	0.0:0.0:1.0:0.0	.	77	Q96R09	OR5B2_HUMAN	H	77	ENSP00000303076:P77H	ENSP00000303076:P77H	P	-	2	0	OR5B2	57947081	1.000000	0.71417	0.940000	0.37924	0.352000	0.29268	9.481000	0.97933	2.130000	0.65690	0.645000	0.84053	CCC		PASS	0.488	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		6	78	6	78	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271511	59271511	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:59271511C>T	ENST00000313253.1	+	1	463	c.463C>T	c.(463-465)Cac>Tac	p.H155Y		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H155Y(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGCTTTGTCCACTCCATCGT	0.547																																						uc001noa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(463-465)CAC>TAC		olfactory receptor, family 4, subfamily D,							212.0	181.0	191.0					11																	59271511		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271511C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.463C>T	11.37:g.59271511C>T	ENSP00000320077:p.His155Tyr						p.H155Y	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	463	+			155			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.463C>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	c	15.80	2.939259	0.52972	.	.	ENSG00000176200	ENST00000313253	T	0.36699	1.24	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.57417	0.2052	M	0.70595	2.14	0.32753	N	0.506076	D	0.89917	1.0	D	0.97110	1.0	T	0.69277	-0.5187	10	0.87932	D	0	-40.9818	11.4765	0.50302	0.2818:0.7182:0.0:0.0	.	155	Q8NGI4	OR4DB_HUMAN	Y	155	ENSP00000320077:H155Y	ENSP00000320077:H155Y	H	+	1	0	OR4D11	59028087	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	-0.062000	0.11674	2.473000	0.83533	0.557000	0.71058	CAC		PASS	0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		30	61	30	61	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60102454	60102454	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:60102454C>A	ENST00000300182.4	+	1	151	c.86C>A	c.(85-87)cCc>cAc	p.P29H		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	29						integral component of membrane (GO:0016021)		p.P29H(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AAACCCGAACCCACCAACCAG	0.453																																						uc001npd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)CCC>CAC		membrane-spanning 4-domains, subfamily A, member							146.0	128.0	134.0					11																	60102454		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60102454C>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.86C>A	11.37:g.60102454C>A	ENSP00000300182:p.Pro29His						p.P29H	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			1	100	+			29			Cytoplasmic (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.86C>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	C	3.390	-0.124469	0.06795	.	.	ENSG00000166926	ENST00000300182	T	0.10860	2.83	2.4	0.349	0.16032	.	2.009610	0.02172	N	0.059754	T	0.10165	0.0249	L	0.54323	1.7	0.09310	N	1	D	0.53312	0.959	B	0.38880	0.284	T	0.37337	-0.9710	10	0.15499	T	0.54	.	4.9562	0.14041	0.0:0.6709:0.0:0.3291	.	29	Q96DS6	M4A6E_HUMAN	H	29	ENSP00000300182:P29H	ENSP00000300182:P29H	P	+	2	0	MS4A6E	59859030	0.000000	0.05858	0.000000	0.03702	0.418000	0.31294	0.127000	0.15790	-0.050000	0.13356	-0.727000	0.03589	CCC		PASS	0.453	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			9	86	9	86	---	---	---	---
PRPF19	27339	broad.mit.edu	37	11	60665636	60665636	+	Silent	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:60665636G>C	ENST00000227524.4	-	14	1453	c.1248C>G	c.(1246-1248)gtC>gtG	p.V416V		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.V416V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCCAGAGCTTGACAGAGGAGT	0.532																																						uc001nqf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1246-1248)GTC>GTG		PRP19/PSO4 pre-mRNA processing factor 19							59.0	63.0	62.0					11																	60665636		2203	4299	6502	SO:0001819	synonymous_variant	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60665636G>C	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1248C>G	11.37:g.60665636G>C							p.V416V	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			14	1455	-			416			WD 5.			Silent	SNP	ENST00000227524.4	37	c.1248C>G	CCDS7995.1																																																																																				PASS	0.532	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		12	43	12	43	---	---	---	---
TMEM258	746	broad.mit.edu	37	11	61557389	61557389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:61557389C>A	ENST00000537328.1	-	3	169	c.118G>T	c.(118-120)Gag>Tag	p.E40*	TMEM258_ENST00000543510.1_Nonsense_Mutation_p.E35*|TMEM258_ENST00000535042.1_5'UTR|FEN1_ENST00000305885.2_5'Flank|MIR611_ENST00000384869.1_RNA	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258	40						integral component of membrane (GO:0016021)		p.E40*(1)									GAGGTGACCTCGTAACTGGGC	0.527																																						uc001nsf.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(118-120)GAG>TAG		hypothetical protein LOC746							93.0	72.0	79.0					11																	61557389		2202	4299	6501	SO:0001587	stop_gained	746					integral to membrane		g.chr11:61557389C>A		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172	ENST00000537328.1:c.118G>T	11.37:g.61557389C>A	ENSP00000443216:p.Glu40*					FEN1_uc001nsg.2_5'Flank	p.E40*	NM_014206	NP_055021	P61165	CK010_HUMAN			3	173	-			40					A8K6L8|Q9D953|Q9Y2Q7	Nonsense_Mutation	SNP	ENST00000537328.1	37	c.118G>T	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684510	0.88639	.	.	ENSG00000134825	ENST00000537328;ENST00000543510	.	.	.	5.22	5.22	0.72569	.	0.048210	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.1766	0.93604	0.0:1.0:0.0:0.0	.	.	.	.	X	40;35	.	ENSP00000257262:E40X	E	-	1	0	C11orf10	61313965	1.000000	0.71417	0.991000	0.47740	0.771000	0.43674	7.612000	0.82975	2.594000	0.87642	0.655000	0.94253	GAG		PASS	0.527	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206		4	36	4	36	---	---	---	---
MTA2	9219	broad.mit.edu	37	11	62361826	62361826	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:62361826C>G	ENST00000278823.2	-	17	2135	c.1746G>C	c.(1744-1746)ggG>ggC	p.G582G	MTA2_ENST00000524902.1_Silent_p.G409G|MIR3654_ENST00000496634.2_5'Flank|TUT1_ENST00000308436.7_5'Flank|MTA2_ENST00000527204.1_Silent_p.G409G|TUT1_ENST00000476907.1_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	582					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G582G(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TTGAACGAATCCCTGAAGCCA	0.552																																						uc001ntq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1744-1746)GGG>GGC		metastasis-associated protein 2							77.0	67.0	70.0					11																	62361826		2202	4299	6501	SO:0001819	synonymous_variant	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361826C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1746G>C	11.37:g.62361826C>G						TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.G409G	p.G582G	NM_004739	NP_004730	O94776	MTA2_HUMAN			17	2127	-			582					Q68DB1|Q9UQB5	Silent	SNP	ENST00000278823.2	37	c.1746G>C	CCDS8022.1																																																																																				PASS	0.552	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		5	49	5	49	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64521495	64521495	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:64521495C>A	ENST00000164139.3	-	10	1493	c.1095G>T	c.(1093-1095)gcG>gcT	p.A365A	PYGM_ENST00000377432.3_Silent_p.A277A|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	365					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.A365A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCACATCCCACGCCTGGCACA	0.672																																						uc001oax.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1093-1095)GCG>GCT		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						43.0	34.0	37.0					11																	64521495		2198	4293	6491	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521495C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1095G>T	11.37:g.64521495C>A						PYGM_uc001oay.3_Silent_p.A277A	p.A365A	NM_005609	NP_005600	P11217	PYGM_HUMAN			10	1912	-			365					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1095G>T	CCDS8079.1																																																																																				PASS	0.672	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		4	4	4	4	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65123451	65123451	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:65123451G>T	ENST00000309880.5	+	2	379	c.172G>T	c.(172-174)Gac>Tac	p.D58Y		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	58						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D58Y(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCTGCTGGCGGACTGGTGCAG	0.627																																						uc001odo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GAC>TAC		tigger transposable element derived 3							63.0	73.0	70.0					11																	65123451		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123451G>T		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.172G>T	11.37:g.65123451G>T	ENSP00000308354:p.Asp58Tyr						p.D58Y	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	335	+			58						Missense_Mutation	SNP	ENST00000309880.5	37	c.172G>T	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834296	0.71373	.	.	ENSG00000173825	ENST00000309880	T	0.41400	1.0	4.74	4.74	0.60224	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.34002	N	0.004345	T	0.43634	0.1256	N	0.08118	0	0.36911	D	0.890873	D	0.89917	1.0	D	0.87578	0.998	T	0.57294	-0.7836	10	0.54805	T	0.06	-30.3368	13.639	0.62239	0.0:0.0:1.0:0.0	.	58	Q6B0B8	TIGD3_HUMAN	Y	58	ENSP00000308354:D58Y	ENSP00000308354:D58Y	D	+	1	0	TIGD3	64880027	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	5.861000	0.69553	2.365000	0.80145	0.456000	0.33151	GAC		PASS	0.627	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		13	69	13	69	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65266496	65266496	+	lincRNA	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:65266496C>T	ENST00000534336.1	+	0	1264				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TATAAATACGCCTCGCCCGAG	0.537																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							129.0	131.0	130.0					11																	65266496		874	1988	2862			378938							g.chr11:65266496C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266496C>T								NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.1264C>T																																																																																					PASS	0.537	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		32	87	32	87	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65422461	65422461	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:65422461G>T	ENST00000406246.3	-	11	1305	c.1044C>A	c.(1042-1044)ccC>ccA	p.P348P	RELA_ENST00000308639.9_Silent_p.P345P|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	348					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)	p.P348P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TAAAGGGATAGGGCTGGGGTG	0.592																																						uc001ofg.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)	4						c.(1042-1044)CCC>CCA		v-rel reticuloendotheliosis viral oncogene							13.0	11.0	12.0					11																	65422461		2167	4236	6403	SO:0001819	synonymous_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65422461G>T	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1044C>A	11.37:g.65422461G>T						RELA_uc001ofh.2_Silent_p.P345P|RELA_uc010ron.1_Silent_p.P359P|RELA_uc009yqr.2_Silent_p.P295P|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Silent_p.P348P	p.P348P	NM_021975	NP_068810	Q04206	TF65_HUMAN			11	1184	-			348					Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	37	c.1044C>A	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	1.522	-0.546775	0.04024	.	.	ENSG00000173039	ENST00000426617	.	.	.	3.92	1.96	0.26148	.	.	.	.	.	T	0.60521	0.2275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60692	-0.7213	5	0.62326	D	0.03	-1.4106	6.3695	0.21473	0.2407:0.0:0.7593:0.0	.	.	.	.	I	235	.	ENSP00000437980:L235I	L	-	1	2	RELA	65179037	1.000000	0.71417	0.973000	0.42090	0.449000	0.32228	2.016000	0.40971	0.886000	0.36113	0.549000	0.68633	CTA		PASS	0.592	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		4	5	4	5	---	---	---	---
CTSF	8722	broad.mit.edu	37	11	66333159	66333159	+	Nonsense_Mutation	SNP	G	G	T	rs200646712		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:66333159G>T	ENST00000310325.5	-	8	1137	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*	ACTN3_ENST00000513398.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	343					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.S343*(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTATGGCCGAGTAGGCATT	0.542																																						uc001oip.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1027-1029)TCG>TAG		cathepsin F precursor							105.0	111.0	109.0					11																	66333159		2200	4295	6495	SO:0001587	stop_gained	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333159G>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1028C>A	11.37:g.66333159G>T	ENSP00000310832:p.Ser343*						p.S343*	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			8	1118	-			343					B2R964|O95240|Q9NSU4|Q9UKQ5	Nonsense_Mutation	SNP	ENST00000310325.5	37	c.1028C>A	CCDS8144.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035655	0.35893	.	.	ENSG00000174080	ENST00000310325	.	.	.	5.11	-0.0992	0.13625	.	0.737814	0.12844	N	0.434594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	3.7916	0.08722	0.237:0.0:0.3466:0.4164	.	.	.	.	X	343	.	ENSP00000310832:S343X	S	-	2	0	CTSF	66089735	0.049000	0.20398	0.001000	0.08648	0.007000	0.05969	0.739000	0.26173	-0.081000	0.12662	-0.181000	0.13052	TCG		PASS	0.542	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		6	118	6	118	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68190986	68190986	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:68190986C>G	ENST00000294304.7	+	14	3163	c.3057C>G	c.(3055-3057)ggC>ggG	p.G1019G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1019	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G1019G(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAGCCAAGGCCAAAACCCAG	0.587																																						uc001ont.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(3055-3057)GGC>GGG		low density lipoprotein receptor-related protein							114.0	111.0	112.0					11																	68190986		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68190986C>G	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3057C>G	11.37:g.68190986C>G						LRP5_uc009ysg.2_Silent_p.G429G	p.G1019G	NM_002335	NP_002326	O75197	LRP5_HUMAN			14	3132	+			1019			Beta-propeller 4.|LDL-receptor class B 16.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3057C>G	CCDS8181.1																																																																																				PASS	0.587	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		20	76	20	76	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73834143	73834143	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:73834143C>A	ENST00000334126.7	-	8	1481	c.1255G>T	c.(1255-1257)Ggc>Tgc	p.G419C	C2CD3_ENST00000313663.7_Missense_Mutation_p.G419C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	419					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.G419C(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGAGGAGAGCCTAGCCCATCC	0.423																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(1255-1257)GGC>TGC		C2 calcium-dependent domain containing 3							69.0	68.0	68.0					11																	73834143		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73834143C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1255G>T	11.37:g.73834143C>A	ENSP00000334379:p.Gly419Cys					C2CD3_uc001ouv.2_Missense_Mutation_p.G419C	p.G419C	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			8	1482	-	Breast(11;4.16e-06)		419					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1255G>T		.	.	.	.	.	.	.	.	.	.	C	21.3	4.132739	0.77662	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.16196	2.36;2.43	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.68952	2.095	0.41089	D	0.985584	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.22906	-1.0203	10	0.87932	D	0	-11.6728	15.4274	0.75065	0.0:0.8607:0.1393:0.0	.	419;419	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	C	419	ENSP00000334379:G419C;ENSP00000323339:G419C	ENSP00000323339:G419C	G	-	1	0	C2CD3	73511791	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.767000	0.62286	2.586000	0.87340	0.561000	0.74099	GGC		PASS	0.423	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		12	12	12	12	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78413354	78413354	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:78413354T>C	ENST00000278550.7	-	28	4766	c.4304A>G	c.(4303-4305)aAc>aGc	p.N1435S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1435					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.N1435S(2)									CACCTGGTGGTTTTCAGAGAT	0.557																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(4303-4305)AAC>AGC		odz, odd Oz/ten-m homolog 4							97.0	93.0	95.0					11																	78413354		2014	4176	6190	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78413354T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4304A>G	11.37:g.78413354T>C	ENSP00000278550:p.Asn1435Ser					ODZ4_uc009yvb.1_Missense_Mutation_p.N19S	p.N1435S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	4767	-			1435			Extracellular (Potential).|NHL 4.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.4304A>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945913	0.73672	.	.	ENSG00000149256	ENST00000278550	D	0.90620	-2.7	5.53	5.53	0.82687	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	L	0.32530	0.975	0.58432	D	0.999999	D	0.69078	0.997	D	0.70716	0.97	D	0.91124	0.4932	9	.	.	.	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	1435	Q6N022	TEN4_HUMAN	S	1435	ENSP00000278550:N1435S	.	N	-	2	0	ODZ4	78091002	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.805000	0.86005	2.324000	0.78689	0.533000	0.62120	AAC		PASS	0.557	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			25	35	25	35	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92085865	92085865	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:92085865A>T	ENST00000298047.6	+	1	604	c.587A>T	c.(586-588)tAc>tTc	p.Y196F	FAT3_ENST00000409404.2_Missense_Mutation_p.Y196F|FAT3_ENST00000525166.1_Missense_Mutation_p.Y46F|FAT3_ENST00000541502.1_Missense_Mutation_p.Y196F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y196F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCTACTACTACTTTAAAAAT	0.398										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(586-588)TAC>TTC		FAT tumor suppressor homolog 3							55.0	54.0	54.0					11																	92085865		1840	4097	5937	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085865A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.587A>T	11.37:g.92085865A>T	ENSP00000298047:p.Tyr196Phe	TCGA Ovarian(4;0.039)					p.Y196F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	604	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	196			Cadherin 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.587A>T		.	.	.	.	.	.	.	.	.	.	A	8.731	0.916634	0.17907	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.26	5.26	0.73747	.	.	.	.	.	T	0.20941	0.0504	N	0.02345	-0.59	0.26747	N	0.970275	B	0.12013	0.005	B	0.14578	0.011	T	0.16482	-1.0401	9	0.12430	T	0.62	.	8.9362	0.35702	0.9159:0.0:0.0841:0.0	.	196	Q8TDW7-3	.	F	196;196;196;46	ENSP00000298047:Y196F;ENSP00000387040:Y196F;ENSP00000443786:Y196F;ENSP00000432586:Y46F	ENSP00000298047:Y196F	Y	+	2	0	FAT3	91725513	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.944000	0.63561	2.108000	0.64289	0.533000	0.62120	TAC		PASS	0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	39	17	39	---	---	---	---
CARD18	59082	broad.mit.edu	37	11	105009762	105009762	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:105009762C>A	ENST00000530950.1	-	2	50	c.51G>T	c.(49-51)gtG>gtT	p.V17V	CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	17	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.V17V(1)		central_nervous_system(1)|ovary(1)	2						TGCCTGCACCCACTGAATGGA	0.388																																						uc001pis.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(43-45)GTG>GTT		ICEBERG caspase-1 inhibitor							136.0	122.0	126.0					11																	105009762		1877	4112	5989	SO:0001819	synonymous_variant	59082				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:105009762C>A	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.51G>T	11.37:g.105009762C>A							p.V15V	NM_021571	NP_067546	P57730	CAR18_HUMAN			1	51	-			17			CARD.		A2RRF8	Silent	SNP	ENST00000530950.1	37	c.45G>T	CCDS53705.1																																																																																				PASS	0.388	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		17	21	17	21	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113078556	113078556	+	Splice_Site	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:113078556G>T	ENST00000533760.1	+	7	993	c.394G>T	c.(394-396)Gat>Tat	p.D132Y	NCAM1_ENST00000316851.7_Splice_Site_p.D240Y|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Splice_Site_p.D249Y	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	250	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.D249Y(2)|p.D240Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATGCTCTAGGGATGGGGAACA	0.428																																						uc009yyq.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(394-396)GAT>TAT		neural cell adhesion molecule 1 isoform 3							64.0	61.0	62.0					11																	113078556		1952	4148	6100	SO:0001630	splice_region_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078556G>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.393-1G>T	11.37:g.113078556G>T						NCAM1_uc001pno.2_Missense_Mutation_p.D132Y	p.D132Y	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	7	1088	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	250			Ig-like C2-type 3.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.394G>T		.	.	.	.	.	.	.	.	.	.	G	18.52	3.642442	0.67244	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.42131	0.98;0.98	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.237069	0.50627	D	0.000106	T	0.59905	0.2228	.	.	.	0.80722	D	1	D;D;D;D;D	0.64830	0.994;0.984;0.994;0.971;0.987	P;P;P;P;P	0.61477	0.799;0.799;0.873;0.84;0.889	T	0.62464	-0.6849	9	0.72032	D	0.01	-30.1092	13.105	0.59241	0.073:0.0:0.927:0.0	.	250;250;250;250;250	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	Y	132;249;240	ENSP00000384055:D249Y;ENSP00000318472:D240Y	ENSP00000318472:D240Y	D	+	1	0	NCAM1	112583766	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	5.281000	0.65609	2.710000	0.92621	0.655000	0.94253	GAT		PASS	0.428	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	Missense_Mutation	8	32	8	32	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413497	124413497	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:124413497G>C	ENST00000306842.2	-	1	78	c.54C>G	c.(52-54)caC>caG	p.H18Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H18Q(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTCCCGGCTGGTGGGTTAAGC	0.542																																						uc010sam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(52-54)CAC>CAG		olfactory receptor, family 8, subfamily B,							43.0	47.0	46.0					11																	124413497		2200	4297	6497	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413497G>C		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.54C>G	11.37:g.124413497G>C	ENSP00000307159:p.His18Gln						p.H18Q	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	54	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	18			Extracellular (Potential).		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.54C>G	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	1.569	-0.534637	0.04082	.	.	ENSG00000170953	ENST00000306842	T	0.00642	6.02	3.89	2.98	0.34508	.	0.210084	0.33272	N	0.005090	T	0.00412	0.0013	N	0.04043	-0.29	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.48937	-0.8990	10	0.49607	T	0.09	.	4.7946	0.13267	0.1873:0.0:0.6388:0.1739	.	18	Q8NGG6	OR8BC_HUMAN	Q	18	ENSP00000307159:H18Q	ENSP00000307159:H18Q	H	-	3	2	OR8B12	123918707	0.000000	0.05858	0.504000	0.27639	0.124000	0.20399	-0.860000	0.04272	1.219000	0.43474	0.650000	0.86243	CAC		PASS	0.542	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			3	29	3	29	---	---	---	---
PANX3	116337	broad.mit.edu	37	11	124487218	124487218	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:124487218G>A	ENST00000284288.2	+	3	440	c.373G>A	c.(373-375)Gtg>Atg	p.V125M		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	125					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.V125M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTACCTGCCGGTGCTGCTGTG	0.627																																						uc001qah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)GTG>ATG		pannexin 3							55.0	44.0	47.0					11																	124487218		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124487218G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.373G>A	11.37:g.124487218G>A	ENSP00000284288:p.Val125Met						p.V125M	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	3	373	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	125			Helical; (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.373G>A	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176420	0.57692	.	.	ENSG00000154143	ENST00000284288	T	0.29917	1.55	4.92	3.89	0.44902	.	0.545016	0.20134	N	0.098525	T	0.25568	0.0622	L	0.29908	0.895	0.09310	N	1	P	0.37573	0.6	P	0.45506	0.483	T	0.08310	-1.0728	10	0.35671	T	0.21	-6.2005	5.5771	0.17228	0.1328:0.0:0.6083:0.2589	.	125	Q96QZ0	PANX3_HUMAN	M	125	ENSP00000284288:V125M	ENSP00000284288:V125M	V	+	1	0	PANX3	123992428	0.404000	0.25328	0.993000	0.49108	0.957000	0.61999	3.416000	0.52707	2.270000	0.75569	0.455000	0.32223	GTG		PASS	0.627	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			4	7	4	7	---	---	---	---
ST3GAL4	6484	broad.mit.edu	37	11	126279302	126279302	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr11:126279302A>C	ENST00000526727.1	+	8	1141	c.767A>C	c.(766-768)aAg>aCg	p.K256T	ST3GAL4_ENST00000532243.1_Missense_Mutation_p.K255T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.K252T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.K262T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.K252T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.K245T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.K256T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.K251T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.K256T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.K256T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	256					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)	p.K252T(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CGGAAGATTAAGCAGGTGATG	0.517																																						uc001qds.2																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)AAG>ACG		ST3 beta-galactoside alpha-2,3-sialyltransferase							93.0	94.0	93.0					11																	126279302		2201	4297	6498	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126279302A>C	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.767A>C	11.37:g.126279302A>C	ENSP00000436047:p.Lys256Thr					ST3GAL4_uc001qdt.2_Missense_Mutation_p.K252T|ST3GAL4_uc009zcc.2_Missense_Mutation_p.K92T|ST3GAL4_uc009zcd.2_Missense_Mutation_p.K245T|ST3GAL4_uc001qdu.2_Missense_Mutation_p.K252T|ST3GAL4_uc001qdv.2_Missense_Mutation_p.K256T|ST3GAL4_uc009zce.2_Missense_Mutation_p.K252T|ST3GAL4_uc001qdw.2_Missense_Mutation_p.K245T|ST3GAL4_uc001qdx.1_Missense_Mutation_p.K213T|ST3GAL4_uc001qdy.2_Missense_Mutation_p.K92T|ST3GAL4_uc001qdz.2_Missense_Mutation_p.K92T	p.K256T	NM_006278	NP_006269	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	9	986	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	256			Lumenal (Potential).		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.767A>C	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702109	0.48307	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.59	4.45	0.53987	.	0.327430	0.33938	N	0.004404	T	0.37461	0.1004	M	0.62088	1.915	0.37586	D	0.919996	D;B;B	0.54601	0.967;0.001;0.004	P;B;B	0.49752	0.621;0.007;0.007	T	0.34675	-0.9819	10	0.35671	T	0.21	-21.7691	9.9278	0.41503	0.8484:0.0:0.0:0.1516	.	205;252;256	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	T	252;256;262;252;256;256;256;245;255;251;92	ENSP00000227495:K252T;ENSP00000394354:K256T;ENSP00000348451:K262T;ENSP00000433989:K252T;ENSP00000433318:K256T;ENSP00000376437:K256T;ENSP00000436047:K256T;ENSP00000399444:K245T;ENSP00000434349:K255T;ENSP00000434668:K251T;ENSP00000431170:K92T	ENSP00000227495:K252T	K	+	2	0	ST3GAL4	125784512	1.000000	0.71417	0.951000	0.38953	0.882000	0.50991	7.421000	0.80204	0.928000	0.37168	0.460000	0.39030	AAG		PASS	0.517	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		38	51	38	51	---	---	---	---
PARP11	57097	broad.mit.edu	37	12	3921356	3921356	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:3921356T>A	ENST00000228820.4	-	8	1094	c.950A>T	c.(949-951)aAc>aTc	p.N317I	PARP11_ENST00000427057.2_Missense_Mutation_p.N236I|PARP11_ENST00000447133.3_Missense_Mutation_p.N236I|PARP11_ENST00000476985.1_Intron|PARP11_ENST00000397096.2_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	310	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N310I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GATCTTTGGGTTCCAGGTATC	0.413																																						uc001qmk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(928-930)AAC>ATC		poly (ADP-ribose) polymerase family, member 11							124.0	113.0	117.0					12																	3921356		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3921356T>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.950A>T	12.37:g.3921356T>A	ENSP00000228820:p.Asn317Ile					PARP11_uc001qml.2_Missense_Mutation_p.N317I|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.N236I|PARP11_uc001qmn.2_Missense_Mutation_p.N236I	p.N310I	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		7	984	-			310			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.929A>T	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595827	0.46318	.	.	ENSG00000111224	ENST00000427057;ENST00000228820;ENST00000447133	T;T;T	0.15017	2.46;2.46;2.46	5.28	5.28	0.74379	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.143537	0.64402	D	0.000007	T	0.34571	0.0902	M	0.76574	2.34	0.41648	D	0.989118	D;B;B	0.57899	0.981;0.126;0.153	P;B;B	0.60473	0.875;0.134;0.211	T	0.14035	-1.0487	10	0.59425	D	0.04	.	7.7335	0.28799	0.0:0.0907:0.0:0.9093	.	236;317;310	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	I	236;317;236	ENSP00000397058:N236I;ENSP00000228820:N317I;ENSP00000405385:N236I	ENSP00000228820:N317I	N	-	2	0	PARP11	3791617	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.809000	0.69172	2.218000	0.71995	0.528000	0.53228	AAC		PASS	0.413	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			11	84	11	84	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4737745	4737745	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:4737745C>A	ENST00000545990.2	-	5	847	c.323G>T	c.(322-324)tGc>tTc	p.C108F	AKAP3_ENST00000228850.1_Missense_Mutation_p.C108F|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	108					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.C108F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGGGCCCTGGCAAGGAATCTC	0.498																																						uc001qnb.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(322-324)TGC>TTC		A-kinase anchor protein 3							96.0	90.0	92.0					12																	4737745		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737745C>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.323G>T	12.37:g.4737745C>A	ENSP00000440994:p.Cys108Phe						p.C108F	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	552	-			108					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.323G>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	0.103	-1.148710	0.01714	.	.	ENSG00000111254	ENST00000228850;ENST00000545990;ENST00000540967	T;T;T	0.28454	3.61;3.61;1.61	4.49	-4.06	0.03986	.	2.576800	0.00937	N	0.002798	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11397	-1.0589	10	0.09084	T	0.74	.	1.0128	0.01501	0.2243:0.3189:0.2496:0.2073	.	108	O75969	AKAP3_HUMAN	F	108	ENSP00000228850:C108F;ENSP00000440994:C108F;ENSP00000442376:C108F	ENSP00000228850:C108F	C	-	2	0	AKAP3	4608006	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.293000	0.08320	-1.085000	0.03088	-0.932000	0.02703	TGC		PASS	0.498	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		16	28	16	28	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6125817	6125817	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:6125817G>T	ENST00000261405.5	-	30	5430	c.5176C>A	c.(5176-5178)Cgt>Agt	p.R1726S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1726	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R1726S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAGTGAGACGAGGCCCTAAA	0.527																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(5176-5178)CGT>AGT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						79.0	78.0	78.0					12																	6125817		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125817G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5176C>A	12.37:g.6125817G>T	ENSP00000261405:p.Arg1726Ser					VWF_uc010set.1_Intron	p.R1726S	NM_000552	NP_000543	P04275	VWF_HUMAN			30	5426	-			1726			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5176C>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	6.194	0.404014	0.11754	.	.	ENSG00000110799	ENST00000261405	D	0.83506	-1.73	4.31	4.31	0.51392	von Willebrand factor, type A (3);	0.665021	0.13227	N	0.403922	T	0.65626	0.2709	N	0.05441	-0.05	0.80722	D	1	B	0.15141	0.012	B	0.20384	0.029	T	0.58261	-0.7667	10	0.13108	T	0.6	.	10.234	0.43273	0.0:0.2015:0.7985:0.0	.	1726	P04275	VWF_HUMAN	S	1726	ENSP00000261405:R1726S	ENSP00000261405:R1726S	R	-	1	0	VWF	5996078	0.266000	0.24112	0.966000	0.40874	0.784000	0.44337	3.000000	0.49481	2.246000	0.74042	0.555000	0.69702	CGT		PASS	0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	72	4	72	---	---	---	---
NOP2	4839	broad.mit.edu	37	12	6675952	6675952	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:6675952G>A	ENST00000322166.5	-	3	261	c.140C>T	c.(139-141)gCt>gTt	p.A47V	NOP2_ENST00000541778.1_Missense_Mutation_p.A47V|NOP2_ENST00000540228.1_Missense_Mutation_p.A47V|NOP2_ENST00000399466.2_Missense_Mutation_p.A47V|NOP2_ENST00000545200.1_Missense_Mutation_p.A47V|NOP2_ENST00000545915.1_Missense_Mutation_p.A47V|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.A47V|NOP2_ENST00000382421.3_Missense_Mutation_p.A47V	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	47					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.A47V(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CCTCTTTCGAGCACGACTAGA	0.393																																						uc001qpk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(139-141)GCT>GTT		Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.							72.0	64.0	67.0					12																	6675952		1853	4089	5942	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6675952G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.140C>T	12.37:g.6675952G>A	ENSP00000313272:p.Ala47Val					NOP2_uc001qph.1_Missense_Mutation_p.A47V|NOP2_uc001qpi.1_Missense_Mutation_p.A47V|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.A47V|NOP2_uc001qpm.1_Missense_Mutation_p.A47V	p.A47V			P46087	NOP2_HUMAN			2	184	-			47					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.140C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248491	0.80024	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542867;ENST00000536124;ENST00000545492;ENST00000545915;ENST00000540228	T;T;T;T;T;T;T;T;T;T;T	0.51574	2.34;2.28;2.39;2.31;2.34;2.31;0.7;0.73;0.7;0.75;0.75	4.9	4.9	0.64082	.	0.239686	0.41194	D	0.000926	T	0.64450	0.2599	M	0.72118	2.19	0.38624	D	0.951217	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.99	T	0.66101	-0.6007	10	0.40728	T	0.16	-10.6526	11.345	0.49554	0.0:0.1829:0.8171:0.0	.	47;47	Q3KQS4;P46087-2	.;.	V	47	ENSP00000444437:A47V;ENSP00000371858:A47V;ENSP00000439422:A47V;ENSP00000382392:A47V;ENSP00000313272:A47V;ENSP00000443150:A47V;ENSP00000443035:A47V;ENSP00000442895:A47V;ENSP00000441923:A47V;ENSP00000442742:A47V;ENSP00000445402:A47V	ENSP00000313272:A47V	A	-	2	0	NOP2	6546213	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	3.228000	0.51270	2.546000	0.85860	0.655000	0.94253	GCT		PASS	0.393	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		4	10	4	10	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8995787	8995787	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:8995787C>A	ENST00000299698.7	+	12	1486	c.1306C>A	c.(1306-1308)Caa>Aaa	p.Q436K	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.Q436K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACGTTACTACCAAAATGCCTA	0.488																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1306-1308)CAA>AAA		alpha-2-macroglobulin-like 1 precursor							107.0	109.0	108.0					12																	8995787		1993	4177	6170	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8995787C>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1306C>A	12.37:g.8995787C>A	ENSP00000299698:p.Gln436Lys					A2ML1_uc001qva.1_Missense_Mutation_p.Q16K|A2ML1_uc010sgm.1_5'Flank	p.Q436K	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			12	1404	+			280						Missense_Mutation	SNP	ENST00000299698.7	37	c.1306C>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	5.641	0.303017	0.10678	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.30448	1.53	4.24	3.36	0.38483	.	0.520295	0.16268	N	0.221897	T	0.21427	0.0516	L	0.47716	1.5	0.80722	D	1	B	0.23128	0.08	B	0.23275	0.045	T	0.03000	-1.1084	10	0.06757	T	0.87	.	7.4017	0.26967	0.1671:0.741:0.0:0.0918	.	436	A8K2U0	A2ML1_HUMAN	K	436	ENSP00000299698:Q436K	ENSP00000299698:Q436K	Q	+	1	0	A2ML1	8887054	0.006000	0.16342	0.990000	0.47175	0.980000	0.70556	0.021000	0.13489	1.386000	0.46466	0.561000	0.74099	CAA		PASS	0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		7	127	7	127	---	---	---	---
TAS2R20	259295	broad.mit.edu	37	12	11149889	11149889	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:11149889G>A	ENST00000538986.1	-	1	585	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	196					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L196L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATTAACAGCAGAAAAGATATC	0.428																																						uc001qzm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(586-588)CTG>TTG		taste receptor, type 2, member 20							226.0	211.0	216.0					12																	11149889		2203	4300	6503	SO:0001819	synonymous_variant	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149889G>A	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.586C>T	12.37:g.11149889G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L196L	NM_176889	NP_795370	P59543	T2R20_HUMAN			1	586	-			196			Helical; Name=5; (Potential).		P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	c.586C>T	CCDS8639.1																																																																																				PASS	0.428	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		39	86	39	86	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20858882	20858882	+	Splice_Site	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:20858882G>A	ENST00000266509.2	+	4	639		c.e4-1		SLCO1C1_ENST00000381552.1_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.?(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTTCCTCAAAGGGAATCTCTT	0.353																																						uc001rej.3																			2	Unknown(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.e5-1		solute carrier organic anion transporter family,							88.0	95.0	93.0					12																	20858882		2203	4299	6502	SO:0001630	splice_region_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20858882G>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.272-1G>A	12.37:g.20858882G>A						SLCO1C1_uc010sii.1_Splice_Site_p.G91_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G91_splice|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Splice_Site_p.G91_splice|SLCO1C1_uc010sik.1_Splice_Site	p.G91_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			5	627	+	Esophageal squamous(101;0.149)							B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Splice_Site	SNP	ENST00000266509.2	37	c.272_splice	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323160	0.81580	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9138	0.92496	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1C1	20750149	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.263000	0.95617	2.695000	0.91970	0.655000	0.94253	.		PASS	0.353	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	Intron	13	27	13	27	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32135211	32135211	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:32135211C>T	ENST00000312561.4	+	4	1736	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	441								p.S441F(1)									GCTCAGAATTCTAAATTGTCT	0.368																																						uc001rks.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1321-1323)TCT>TTT		hypothetical protein LOC55196							74.0	85.0	81.0					12																	32135211		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135211C>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.1322C>T	12.37:g.32135211C>T	ENSP00000310338:p.Ser441Phe						p.S441F	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	1736	+	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)		441					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1322C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605746	0.28623	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08896	3.68;3.04	5.86	4.0	0.46444	.	0.473416	0.19951	N	0.102431	T	0.08044	0.0201	L	0.34521	1.04	0.09310	N	1	P	0.51537	0.946	P	0.45639	0.488	T	0.22836	-1.0205	9	.	.	.	.	7.1041	0.25354	0.0:0.576:0.3169:0.1072	.	441	Q9HCM1	CL035_HUMAN	F	441	ENSP00000310338:S441F;ENSP00000370442:S441F	.	S	+	2	0	C12orf35	32026478	0.000000	0.05858	0.041000	0.18516	0.038000	0.13279	-0.126000	0.10563	0.773000	0.33404	0.655000	0.94253	TCT		PASS	0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		22	104	22	104	---	---	---	---
PRPH	5630	broad.mit.edu	37	12	49691303	49691303	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:49691303T>C	ENST00000257860.4	+	6	2659	c.1160T>C	c.(1159-1161)aTg>aCg	p.M387T	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.M387T(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AACGTCAAGATGGCCCTGGAC	0.682											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rtu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)ATG>ACG		peripherin							32.0	34.0	34.0					12																	49691303		2202	4300	6502	SO:0001583	missense	5630						structural molecule activity	g.chr12:49691303T>C		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1160T>C	12.37:g.49691303T>C	ENSP00000257860:p.Met387Thr		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964		p.M387T	NM_006262	NP_006253	P41219	PERI_HUMAN			6	1235	+			387			Coil 2.|Rod.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.1160T>C	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.012421	0.93346	.	.	ENSG00000135406	ENST00000257860	D	0.88741	-2.42	5.48	5.48	0.80851	Filament (1);	0.171905	0.28883	N	0.013833	D	0.92368	0.7578	L	0.55481	1.735	0.58432	D	0.999998	D	0.52996	0.957	D	0.64410	0.925	D	0.93088	0.6497	10	0.87932	D	0	.	14.5421	0.68002	0.0:0.0:0.0:1.0	.	387	P41219	PERI_HUMAN	T	387	ENSP00000257860:M387T	ENSP00000257860:M387T	M	+	2	0	PRPH	47977570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.985000	0.88162	2.063000	0.61619	0.533000	0.62120	ATG		PASS	0.682	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		27	24	27	24	---	---	---	---
RDH16	8608	broad.mit.edu	37	12	57348829	57348829	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:57348829T>A	ENST00000398138.3	-	2	1289	c.433A>T	c.(433-435)Act>Tct	p.T145S	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	145					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.T145S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGGCTCAGAGTCACATCAATC	0.567																																					GBM(179;741 2921 43105 45298)	uc001smi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)ACT>TCT		retinol dehydrogenase 16							121.0	121.0	121.0					12																	57348829		2105	4232	6337	SO:0001583	missense	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57348829T>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.433A>T	12.37:g.57348829T>A	ENSP00000381206:p.Thr145Ser					RDH16_uc009zpa.2_Intron	p.T145S	NM_003708	NP_003699	O75452	RDH16_HUMAN			2	605	-			145			Cytoplasmic (Potential).		Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	c.433A>T	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648000	0.87958	.	.	ENSG00000139547	ENST00000398138	D	0.87334	-2.24	4.98	4.98	0.66077	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000003	D	0.91988	0.7462	M	0.70275	2.135	0.52501	D	0.999952	D	0.69078	0.997	D	0.67382	0.951	D	0.92531	0.6033	10	0.59425	D	0.04	.	13.8434	0.63453	0.0:0.0:0.0:1.0	.	145	O75452	RDH16_HUMAN	S	145	ENSP00000381206:T145S	ENSP00000381206:T145S	T	-	1	0	RDH16	55635096	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.733000	0.84916	2.106000	0.64143	0.529000	0.55759	ACT		PASS	0.567	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		10	49	10	49	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57974946	57974946	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:57974946G>T	ENST00000455537.2	+	24	3020	c.2746G>T	c.(2746-2748)Gcc>Tcc	p.A916S	KIF5A_ENST00000286452.5_Missense_Mutation_p.A827S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	916	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A916S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGGCCATTCTGCCCAGATTGG	0.527																																						uc001sor.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2746-2748)GCC>TCC		kinesin family member 5A							37.0	34.0	35.0					12																	57974946		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57974946G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2746G>T	12.37:g.57974946G>T	ENSP00000408979:p.Ala916Ser					KIF5A_uc010srr.1_Missense_Mutation_p.A827S	p.A916S	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			24	2954	+			916			Globular.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2746G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854807	0.91355	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	D;D	0.87029	-2.2;-2.2	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	L	0.47190	1.495	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74348	0.983;0.968	D	0.86574	0.1849	10	0.18276	T	0.48	.	17.7756	0.88506	0.0:0.0:1.0:0.0	.	827;916	B7Z2M7;Q12840	.;KIF5A_HUMAN	S	916;827;10	ENSP00000408979:A916S;ENSP00000286452:A827S	ENSP00000286452:A827S	A	+	1	0	KIF5A	56261213	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	5.782000	0.68973	2.814000	0.96858	0.655000	0.94253	GCC		PASS	0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		6	17	6	17	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72029243	72029243	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:72029243C>T	ENST00000378743.3	-	10	2576	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	740					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E740K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGTCTTGCTTCTTTAATCATG	0.348																																						uc001swo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2218-2220)GAA>AAA		proline/serine-rich coiled-coil 2							157.0	145.0	149.0					12																	72029243		1851	4106	5957	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72029243C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2218G>A	12.37:g.72029243C>T	ENSP00000368017:p.Glu740Lys						p.E740K	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			10	2577	-			740					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2218G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427513	0.96131	.	.	ENSG00000133858	ENST00000378743	T	0.50277	0.75	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.61657	-0.7018	10	0.62326	D	0.03	.	19.3765	0.94512	0.0:1.0:0.0:0.0	.	740	O60293	ZC3H1_HUMAN	K	740	ENSP00000368017:E740K	ENSP00000368017:E740K	E	-	1	0	ZFC3H1	70315510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.858000	0.75461	2.641000	0.89580	0.655000	0.94253	GAA		PASS	0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		7	33	7	33	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72092834	72092834	+	Silent	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:72092834T>C	ENST00000266673.5	+	5	1386	c.792T>C	c.(790-792)gcT>gcC	p.A264A	TMEM19_ENST00000549735.1_Silent_p.A264A	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	264						integral component of membrane (GO:0016021)		p.A264A(1)		large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTTTAGCTGGATTACTAG	0.403																																						uc001sws.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(790-792)GCT>GCC		transmembrane protein 19							174.0	162.0	166.0					12																	72092834		2203	4300	6503	SO:0001819	synonymous_variant	55266					integral to membrane		g.chr12:72092834T>C	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.792T>C	12.37:g.72092834T>C						TMEM19_uc001swr.1_Silent_p.A250A|TMEM19_uc009zru.1_RNA	p.A264A	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	5	1375	+		Breast(359;0.0889)	264			Helical; (Potential).		B2RDL2|Q53FY3|Q9NV41	Silent	SNP	ENST00000266673.5	37	c.792T>C	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.472690	0.26423	.	.	ENSG00000139291	ENST00000550787	.	.	.	6.06	2.1	0.27182	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	4	.	.	.	-13.6633	6.491	0.22115	0.0:0.1384:0.1303:0.7313	.	.	.	.	R	80	.	.	W	+	1	0	TMEM19	70379101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.887000	0.28254	1.072000	0.40860	0.533000	0.62120	TGG		PASS	0.403	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		18	49	18	49	---	---	---	---
OAS1	4938	broad.mit.edu	37	12	113346549	113346549	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:113346549G>T	ENST00000202917.5	+	2	652	c.389G>T	c.(388-390)cGt>cTt	p.R130L	OAS1_ENST00000445409.2_Missense_Mutation_p.R130L|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Missense_Mutation_p.R130L|OAS1_ENST00000452357.2_Missense_Mutation_p.R130L|OAS1_ENST00000551241.1_Missense_Mutation_p.R130L	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	130					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.R130L(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGCAACCCCCGTGCGCTCAGC	0.577																																						uc001tud.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(388-390)CGT>CTT		2',5'-oligoadenylate synthetase 1 isoform 1							81.0	76.0	78.0					12																	113346549		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113346549G>T	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.389G>T	12.37:g.113346549G>T	ENSP00000202917:p.Arg130Leu					OAS1_uc010syn.1_Missense_Mutation_p.R129L|OAS1_uc010syo.1_Missense_Mutation_p.R129L|OAS1_uc001tub.2_Missense_Mutation_p.R130L|OAS1_uc001tuc.2_Missense_Mutation_p.R130L|OAS1_uc009zwf.2_Missense_Mutation_p.R129L	p.R130L	NM_016816	NP_058132	P00973	OAS1_HUMAN			2	495	+			130			Necessary for binding to dsRNA.		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.389G>T	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643583	0.67244	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03	4.31	4.31	0.51392	.	0.563411	0.15923	N	0.238042	T	0.35508	0.0934	M	0.91510	3.215	0.18873	N	0.999983	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0;0.998	D;D;D;D;D;D	0.78314	0.97;0.983;0.98;0.991;0.985;0.972	T	0.19811	-1.0294	10	0.87932	D	0	-25.987	12.456	0.55704	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	L	130;130;130;130;130;130;130;126	ENSP00000202917:R130L;ENSP00000388001:R130L;ENSP00000415721:R130L;ENSP00000448790:R130L;ENSP00000448001:R130L;ENSP00000448348:R126L	ENSP00000202917:R130L	R	+	2	0	OAS1	111830932	0.236000	0.23804	0.196000	0.23383	0.007000	0.05969	3.393000	0.52544	2.420000	0.82092	0.455000	0.32223	CGT		PASS	0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			21	28	21	28	---	---	---	---
OASL	8638	broad.mit.edu	37	12	121471503	121471503	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:121471503T>G	ENST00000257570.5	-	2	512	c.242A>C	c.(241-243)gAg>gCg	p.E81A	OASL_ENST00000339275.5_Missense_Mutation_p.E81A	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	81					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)	p.E81A(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGCTCCACCTCTCTGGTGCT	0.582																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(241-243)GAG>GCG		2'-5'-oligoadenylate synthetase-like isoform a							99.0	100.0	100.0					12																	121471503		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121471503T>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.242A>C	12.37:g.121471503T>G	ENSP00000257570:p.Glu81Ala					OASL_uc001tzk.1_Missense_Mutation_p.E81A	p.E81A	NM_003733	NP_003724	Q15646	OASL_HUMAN			2	248	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		81					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.242A>C	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881120	0.51801	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.10288	2.89;2.89	4.52	4.52	0.55395	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	0.230509	0.29775	N	0.011239	T	0.18635	0.0447	L	0.58101	1.795	0.27439	N	0.953789	P;P	0.48911	0.915;0.917	P;P	0.50708	0.648;0.584	T	0.03374	-1.1043	10	0.87932	D	0	-24.6874	10.4157	0.44320	0.0:0.0:0.0:1.0	.	81;81	Q15646-2;Q15646	.;OASL_HUMAN	A	81	ENSP00000257570:E81A;ENSP00000341125:E81A	ENSP00000257570:E81A	E	-	2	0	OASL	119955886	0.844000	0.29557	0.951000	0.38953	0.269000	0.26545	4.222000	0.58580	2.020000	0.59435	0.454000	0.30748	GAG		PASS	0.582	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		21	103	21	103	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123818603	123818603	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:123818603G>T	ENST00000602398.1	-	7	1033	c.906C>A	c.(904-906)gcC>gcA	p.A302A	SBNO1_ENST00000267176.4_Silent_p.A301A|SBNO1_ENST00000602750.1_Silent_p.A301A|SBNO1_ENST00000420886.2_Silent_p.A302A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	302					regulation of transcription, DNA-templated (GO:0006355)			p.A301A(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGCTTACCTGGGCTGCATATG	0.333																																						uc010tap.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(904-906)GCC>GCA		sno, strawberry notch homolog 1							52.0	50.0	51.0					12																	123818603		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123818603G>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.906C>A	12.37:g.123818603G>T						SBNO1_uc010tao.1_Silent_p.A301A|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.A302A|SBNO1_uc001ueu.2_Silent_p.A301A|SBNO1_uc001uev.2_Silent_p.A300A|SBNO1_uc009zxy.1_Silent_p.A267A	p.A302A	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	6	906	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		302					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.906C>A	CCDS53844.1																																																																																				PASS	0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	20	4	20	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132262629	132262629	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:132262629G>T	ENST00000261674.4	+	14	2303	c.2162G>T	c.(2161-2163)tGc>tTc	p.C721F	SFSWAP_ENST00000541286.1_Missense_Mutation_p.C721F	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	721					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.C721F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						ACTACGCCCTGCCCTCTACTG	0.433																																						uc001uja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2161-2163)TGC>TTC		splicing factor, arginine/serine-rich 8							45.0	49.0	47.0					12																	132262629		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132262629G>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2162G>T	12.37:g.132262629G>T	ENSP00000261674:p.Cys721Phe					SFRS8_uc010tbn.1_Missense_Mutation_p.C721F|SFRS8_uc001ujb.1_Missense_Mutation_p.C514F	p.C721F	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	14	2302	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		721					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.2162G>T	CCDS9273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.53|10.53	1.374971|1.374971	0.24857|0.24857	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000537164|ENST00000261674;ENST00000535236;ENST00000541286	.|T;T;T	.|0.23950	.|2.9;1.88;2.91	5.73|5.73	4.83|4.83	0.62350|0.62350	.|.	.|0.577064	.|0.21792	.|N	.|0.069053	T|T	0.36799|0.36799	0.0980|0.0980	L|L	0.56769|0.56769	1.78|1.78	0.48762|0.48762	D|D	0.999708|0.999708	.|P;P	.|0.46220	.|0.874;0.612	.|P;B	.|0.48141	.|0.568;0.259	T|T	0.12889|0.12889	-1.0530|-1.0530	5|10	.|0.45353	.|T	.|0.12	-4.464|-4.464	16.8186|16.8186	0.85739|0.85739	0.0:0.1287:0.8713:0.0|0.0:0.1287:0.8713:0.0	.|.	.|721;721	.|F5H6B8;Q12872	.|.;SFSWA_HUMAN	S|F	284|721;514;721	.|ENSP00000261674:C721F;ENSP00000443045:C514F;ENSP00000437738:C721F	.|ENSP00000261674:C721F	A|C	+|+	1|2	0|0	SFSWAP|SFSWAP	130828582|130828582	0.925000|0.925000	0.31364|0.31364	0.953000|0.953000	0.39169|0.39169	0.065000|0.065000	0.16274|0.16274	2.425000|2.425000	0.44723|0.44723	1.410000|1.410000	0.46936|0.46936	0.655000|0.655000	0.94253|0.94253	GCC|TGC		PASS	0.433	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		7	33	7	33	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133209281	133209281	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:133209281C>A	ENST00000320574.5	-	44	6148	c.6105G>T	c.(6103-6105)caG>caT	p.Q2035H	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.Q2008H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2035					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.Q2035H(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCTCGGCCTCCTGGGAGAGCT	0.652								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(6103-6105)CAG>CAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							33.0	35.0	34.0					12																	133209281		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133209281C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6105G>T	12.37:g.133209281C>A	ENSP00000322570:p.Gln2035His					POLE_uc001ukq.1_Missense_Mutation_p.Q245H|POLE_uc001ukr.1_Missense_Mutation_p.Q839H|POLE_uc010tbq.1_RNA	p.Q2035H	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	44	6149	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2035					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6105G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149205	0.78001	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.56103	0.48;0.48;0.48	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.81497	2.545	0.58432	D	0.999996	D;P	0.53885	0.963;0.673	P;B	0.53146	0.719;0.179	T	0.67914	-0.5547	10	0.45353	T	0.12	.	12.5583	0.56267	0.0:0.9235:0.0:0.0764	.	2035;245	Q07864;B3KS74	DPOE1_HUMAN;.	H	245;2035;2046;2008	ENSP00000322570:Q2035H;ENSP00000406383:Q2046H;ENSP00000445753:Q2008H	ENSP00000322570:Q2035H	Q	-	3	2	POLE	131719354	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	1.662000	0.37418	2.541000	0.85698	0.478000	0.44815	CAG		PASS	0.652	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		4	14	4	14	---	---	---	---
IFT88	8100	broad.mit.edu	37	13	21172829	21172829	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr13:21172829A>G	ENST00000319980.6	+	12	988	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	IFT88_ENST00000351808.5_Missense_Mutation_p.M212V|IFT88_ENST00000382778.4_Missense_Mutation_p.M221V|IFT88_ENST00000537103.1_Missense_Mutation_p.M193V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	221					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.M221V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGTTAATGAAATGTATGCCGA	0.323																																						uc001unh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)ATG>GTG		intraflagellar transport 88 homolog isoform 1							133.0	134.0	133.0					13																	21172829		2202	4291	6493	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21172829A>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.661A>G	13.37:g.21172829A>G	ENSP00000323580:p.Met221Val					IFT88_uc001uni.2_Missense_Mutation_p.M212V|IFT88_uc001unj.2_Missense_Mutation_p.M211V|IFT88_uc010tcq.1_Missense_Mutation_p.M192V|IFT88_uc001unk.2_Missense_Mutation_p.M1V	p.M221V	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	12	1057	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	221			TPR 1.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.661A>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377071	0.61735	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.76316	-0.96;-1.01;0.69;0.69	4.99	4.99	0.66335	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	M	0.84846	2.72	0.80722	D	1	P;P;P	0.51933	0.936;0.949;0.865	P;P;P	0.57620	0.596;0.642;0.824	D	0.88958	0.3391	10	0.62326	D	0.03	-19.5754	14.6826	0.69028	1.0:0.0:0.0:0.0	.	193;53;221	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	V	221;118;212;221;193	ENSP00000372228:M221V;ENSP00000261632:M212V;ENSP00000323580:M221V;ENSP00000437719:M193V	ENSP00000323580:M221V	M	+	1	0	IFT88	20070829	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.994000	0.76251	1.880000	0.54463	0.482000	0.46254	ATG		PASS	0.323	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		18	37	18	37	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23909099	23909099	+	Silent	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr13:23909099T>A	ENST00000382292.3	-	9	9189	c.8916A>T	c.(8914-8916)ccA>ccT	p.P2972P	SACS_ENST00000402364.1_Silent_p.P2222P|SACS_ENST00000382298.3_Silent_p.P2972P			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2972					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.P2825P(1)|p.P2972P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATATAAATCTGGCTGTAGAT	0.378																																						uc001uon.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8914-8916)CCA>CCT		sacsin							87.0	90.0	89.0					13																	23909099		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909099T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8916A>T	13.37:g.23909099T>A						SACS_uc001uoo.2_Silent_p.P2825P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.P2972P	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9505	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2972					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.8916A>T	CCDS9300.2																																																																																				PASS	0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		14	34	14	34	---	---	---	---
C1QTNF9	338872	broad.mit.edu	37	13	24895767	24895767	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr13:24895767C>G	ENST00000382071.2	+	4	948	c.863C>G	c.(862-864)tCt>tGt	p.S288C	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.S288C|C1QTNF9-AS1_ENST00000449656.1_RNA|AL359736.1_ENST00000422229.2_5'Flank			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	288	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.S288C(1)		endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GACCAGGCCTCTGGCGGCATT	0.498																																						uc001upj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)TCT>TGT		C1q and tumor necrosis factor related protein 9							117.0	112.0	114.0					13																	24895767		2203	4300	6503	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895767C>G	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.863C>G	13.37:g.24895767C>G	ENSP00000371503:p.Ser288Cys					C1QTNF9_uc001upe.2_RNA	p.S288C	NM_178540	NP_848635	P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	924	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	288			C1q.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.863C>G	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	c	19.59	3.855494	0.71719	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	T;T	0.80994	-1.44;-1.44	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.180093	0.50627	D	0.000108	D	0.90738	0.7093	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92810	0.6263	10	0.87932	D	0	.	15.5078	0.75753	0.0:1.0:0.0:0.0	.	288	P0C862	C1T9A_HUMAN	C	288	ENSP00000371503:S288C;ENSP00000333737:S288C	ENSP00000333737:S288C	S	+	2	0	C1QTNF9	23793767	0.998000	0.40836	0.511000	0.27724	0.911000	0.54048	7.175000	0.77632	2.180000	0.69256	0.430000	0.28490	TCT		PASS	0.498	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		18	103	18	103	---	---	---	---
SLC7A1	6541	broad.mit.edu	37	13	30096468	30096468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr13:30096468G>T	ENST00000380752.5	-	8	1561	c.1175C>A	c.(1174-1176)tCg>tAg	p.S392*	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	392					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.S392*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AACGGCACCCGAGGCTAATGT	0.458																																						uc001uso.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1174-1176)TCG>TAG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						292.0	264.0	274.0					13																	30096468		2203	4300	6503	SO:0001587	stop_gained	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30096468G>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1175C>A	13.37:g.30096468G>T	ENSP00000370128:p.Ser392*						p.S392*	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	8	1562	-		Lung SC(185;0.0257)|Breast(139;0.238)	392			Helical; (Potential).		Q5JR50	Nonsense_Mutation	SNP	ENST00000380752.5	37	c.1175C>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	38	7.126406	0.98081	.	.	ENSG00000139514	ENST00000380752	.	.	.	4.89	4.89	0.63831	.	0.056250	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5927	0.88001	0.0:0.0:1.0:0.0	.	.	.	.	X	392	.	ENSP00000370128:S392X	S	-	2	0	SLC7A1	28994468	1.000000	0.71417	0.984000	0.44739	0.154000	0.21943	9.539000	0.98076	2.717000	0.92951	0.650000	0.86243	TCG		PASS	0.458	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		6	174	6	174	---	---	---	---
SLC7A1	6541	broad.mit.edu	37	13	30096527	30096527	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr13:30096527A>C	ENST00000380752.5	-	8	1502	c.1116T>G	c.(1114-1116)ttT>ttG	p.F372L	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	372					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.F372L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTAAGAATTTAAATAGCAGTC	0.483																																						uc001uso.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1114-1116)TTT>TTG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						270.0	236.0	248.0					13																	30096527		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30096527A>C	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1116T>G	13.37:g.30096527A>C	ENSP00000370128:p.Phe372Leu						p.F372L	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	8	1503	-		Lung SC(185;0.0257)|Breast(139;0.238)	372			Cytoplasmic (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1116T>G	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256467	0.80246	.	.	ENSG00000139514	ENST00000380752	D	0.89123	-2.47	4.89	2.46	0.29980	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	H	0.94582	3.555	0.49299	D	0.999778	P	0.48834	0.916	P	0.56042	0.79	D	0.92095	0.5683	10	0.72032	D	0.01	.	6.9477	0.24528	0.7224:0.0:0.2776:0.0	.	372	P30825	CTR1_HUMAN	L	372	ENSP00000370128:F372L	ENSP00000370128:F372L	F	-	3	2	SLC7A1	28994527	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	2.757000	0.47557	0.449000	0.26747	0.528000	0.53228	TTT		PASS	0.483	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		26	110	26	110	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111111228	111111228	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr13:111111228G>A	ENST00000360467.5	+	22	1849	c.1543G>A	c.(1543-1545)Ggg>Agg	p.G515R	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	515	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G515R(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGGAGGAAAGGGGACAGAGG	0.602																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1543-1545)GGG>AGG		alpha 2 type IV collagen preproprotein							45.0	50.0	49.0					13																	111111228		1932	4131	6063	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111111228G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1543G>A	13.37:g.111111228G>A	ENSP00000353654:p.Gly515Arg						p.G515R	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		22	1832	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	515			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1543G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472699	0.43942	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000031	D	0.99687	0.9882	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97350	0.9963	10	0.87932	D	0	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	515	P08572	CO4A2_HUMAN	R	515	ENSP00000353654:G515R	ENSP00000257309:G515R	G	+	1	0	COL4A2	109909229	1.000000	0.71417	0.922000	0.36590	0.039000	0.13416	5.486000	0.66856	2.518000	0.84900	0.655000	0.94253	GGG		PASS	0.602	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		6	16	6	16	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296014	20296014	+	Missense_Mutation	SNP	T	T	A	rs201223032		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:20296014T>A	ENST00000315947.1	+	1	407	c.407T>A	c.(406-408)aTg>aAg	p.M136K	OR4N2_ENST00000568211.1_Missense_Mutation_p.M136K	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M136K(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)		CCTACTGTCATGAACCCTAGA	0.522																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(406-408)ATG>AAG		olfactory receptor, family 4, subfamily N,							210.0	223.0	218.0					14																	20296014		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296014T>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.407T>A	14.37:g.20296014T>A	ENSP00000319601:p.Met136Lys						p.M136K	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	407	+	all_cancers(95;0.00108)		136			Cytoplasmic (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.407T>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	12.39	1.922775	0.33908	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00601	6.29;6.29	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.02455	0.0075	H	0.98866	4.355	0.37037	D	0.896963	B	0.21309	0.054	B	0.24394	0.053	T	0.01111	-1.1448	10	0.87932	D	0	-25.7282	12.0972	0.53761	0.0:0.0:0.0:1.0	.	136	Q8NGD1	OR4N2_HUMAN	K	136	ENSP00000452022:M136K;ENSP00000319601:M136K	ENSP00000319601:M136K	M	+	2	0	OR4N2	19365854	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	5.586000	0.67503	2.012000	0.59069	0.482000	0.46254	ATG		PASS	0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			31	150	31	150	---	---	---	---
EFS	10278	broad.mit.edu	37	14	23828827	23828827	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:23828827C>A	ENST00000216733.3	-	4	1467	c.860G>T	c.(859-861)aGc>aTc	p.S287I	EFS_ENST00000351354.3_Missense_Mutation_p.S194I|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Missense_Mutation_p.S118I	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	287	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.S287I(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGTGGGGGGCTTCTGGCCAG	0.721																																						uc001wjo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(859-861)AGC>ATC		embryonal Fyn-associated substrate isoform 1							9.0	12.0	11.0					14																	23828827		2033	4141	6174	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828827C>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.860G>T	14.37:g.23828827C>A	ENSP00000216733:p.Ser287Ile					EFS_uc001wjp.2_Missense_Mutation_p.S194I|EFS_uc010tnm.1_Missense_Mutation_p.S118I	p.S287I	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1468	-	all_cancers(95;7.12e-06)		287			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.860G>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160372	0.57368	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.59083	0.29;0.83;0.87	4.58	4.58	0.56647	.	0.201472	0.41823	D	0.000810	T	0.60560	0.2278	N	0.24115	0.695	0.26724	N	0.970727	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.78314	0.986;0.961;0.991	T	0.52866	-0.8518	10	0.30854	T	0.27	-17.7201	12.7478	0.57291	0.0:1.0:0.0:0.0	.	118;194;287	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	I	287;194;118	ENSP00000216733:S287I;ENSP00000340607:S194I;ENSP00000416684:S118I	ENSP00000216733:S287I	S	-	2	0	EFS	22898667	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.528000	0.60580	2.381000	0.81170	0.563000	0.77884	AGC		PASS	0.721	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			3	11	3	11	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24842950	24842950	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:24842950C>A	ENST00000250373.4	+	5	1750	c.1609C>A	c.(1609-1611)Cgg>Agg	p.R537R	NFATC4_ENST00000539237.2_Silent_p.R569R|NFATC4_ENST00000556279.1_Silent_p.R569R|NFATC4_ENST00000424781.2_Silent_p.R550R|NFATC4_ENST00000422617.3_Silent_p.R525R|NFATC4_ENST00000555590.1_Silent_p.R550R|NFATC4_ENST00000556759.1_Silent_p.R72R|NFATC4_ENST00000553469.1_Silent_p.R569R|NFATC4_ENST00000553879.1_Silent_p.R467R|NFATC4_ENST00000413692.2_Silent_p.R600R|NFATC4_ENST00000555167.1_Silent_p.R72R|NFATC4_ENST00000557451.1_Silent_p.R467R|NFATC4_ENST00000554344.1_Silent_p.R467R|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000555453.1_Silent_p.R525R|NFATC4_ENST00000553708.1_Silent_p.R537R|NFATC4_ENST00000554591.1_Silent_p.R600R|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000556169.1_Silent_p.R525R|NFATC4_ENST00000554050.1_Silent_p.R537R|NFATC4_ENST00000554966.1_Silent_p.R550R|NFATC4_ENST00000554473.1_Silent_p.R72R|NFATC4_ENST00000554661.1_Silent_p.R467R	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	537	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)	p.R537R(1)|p.R600R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATTGAGCTTCGGAAGGGTGA	0.582																																						uc001wpc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1609-1611)CGG>AGG		nuclear factor of activated T-cells,							104.0	104.0	104.0					14																	24842950		2203	4300	6503	SO:0001819	synonymous_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24842950C>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1609C>A	14.37:g.24842950C>A						NFATC4_uc010tok.1_Silent_p.R600R|NFATC4_uc010tol.1_Silent_p.R600R|NFATC4_uc010alr.2_Silent_p.R600R|NFATC4_uc010als.2_Silent_p.R550R|NFATC4_uc010tom.1_Silent_p.R550R|NFATC4_uc010ton.1_Silent_p.R550R|NFATC4_uc010too.1_Silent_p.R550R|NFATC4_uc010alt.2_Silent_p.R569R|NFATC4_uc010top.1_Silent_p.R569R|NFATC4_uc010toq.1_Silent_p.R569R|NFATC4_uc010alu.2_Silent_p.R229R|NFATC4_uc010tor.1_Silent_p.R537R|NFATC4_uc010tos.1_Silent_p.R467R|NFATC4_uc010tot.1_Silent_p.R525R|NFATC4_uc010tou.1_Silent_p.R467R|NFATC4_uc010tov.1_Silent_p.R525R|NFATC4_uc010tow.1_Silent_p.R467R|NFATC4_uc010alv.2_Silent_p.R525R|NFATC4_uc010tox.1_Silent_p.R467R|NFATC4_uc001wpd.2_Silent_p.R72R|NFATC4_uc010toy.1_Silent_p.R72R|NFATC4_uc010toz.1_Silent_p.R72R|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	p.R537R	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	5	1930	+			537			RHD.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	c.1609C>A	CCDS9629.1																																																																																				PASS	0.582	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		6	159	6	159	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33291678	33291678	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:33291678G>C	ENST00000280979.4	+	13	4829	c.4659G>C	c.(4657-4659)atG>atC	p.M1553I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1553					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.M1553I(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCACTGGCATGCAGAATGCCA	0.403																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4657-4659)ATG>ATC		A-kinase anchor protein 6							113.0	120.0	118.0					14																	33291678		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291678G>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4659G>C	14.37:g.33291678G>C	ENSP00000280979:p.Met1553Ile						p.M1553I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4829	+	Breast(36;0.0388)|Prostate(35;0.15)		1553					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4659G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	1.149	-0.647212	0.03506	.	.	ENSG00000151320	ENST00000280979	T	0.04502	3.61	5.79	2.81	0.32909	.	0.429106	0.27991	N	0.017028	T	0.02888	0.0086	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	10	0.16420	T	0.52	-1.4228	1.1919	0.01867	0.2128:0.1375:0.4329:0.2168	.	1553	Q13023	AKAP6_HUMAN	I	1553	ENSP00000280979:M1553I	ENSP00000280979:M1553I	M	+	3	0	AKAP6	32361429	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.887000	0.28254	0.288000	0.22398	0.650000	0.86243	ATG		PASS	0.403	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		26	76	26	76	---	---	---	---
EAPP	55837	broad.mit.edu	37	14	35002668	35002668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:35002668C>A	ENST00000250454.3	-	3	415	c.334G>T	c.(334-336)Gag>Tag	p.E112*		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	112					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.E112*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCTTCATCCTCGGAATCAGAA	0.348																																						uc001wsd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(334-336)GAG>TAG		E2F-associated phosphoprotein							141.0	129.0	132.0					14																	35002668		1851	4086	5937	SO:0001587	stop_gained	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:35002668C>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.334G>T	14.37:g.35002668C>A	ENSP00000250454:p.Glu112*						p.E112*	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	3	443	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		112					Q9BVF4|Q9NWV5|Q9NZ86	Nonsense_Mutation	SNP	ENST00000250454.3	37	c.334G>T	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	C	38	6.690463	0.97764	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	.	.	.	5.44	5.44	0.79542	.	0.092363	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.2657	19.6537	0.95828	0.0:1.0:0.0:0.0	.	.	.	.	X	112;91	.	ENSP00000250454:E112X	E	-	1	0	EAPP	34072419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.180000	0.58296	2.729000	0.93468	0.655000	0.94253	GAG		PASS	0.348	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		5	78	5	78	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35240766	35240766	+	Silent	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:35240766G>C	ENST00000382422.2	-	20	3579	c.3252C>G	c.(3250-3252)ctC>ctG	p.L1084L	BAZ1A_ENST00000358716.4_Silent_p.L1052L|BAZ1A_ENST00000360310.1_Silent_p.L1084L			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1084					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.L1084L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTATTTGAAAGAGTGCCATTG	0.373																																						uc001wsk.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(3250-3252)CTC>CTG		bromodomain adjacent to zinc finger domain, 1A							203.0	198.0	199.0					14																	35240766		2203	4300	6503	SO:0001819	synonymous_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35240766G>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3252C>G	14.37:g.35240766G>C						BAZ1A_uc001wsl.2_Silent_p.L1052L	p.L1084L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	21	3820	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1084					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	c.3252C>G	CCDS9651.1																																																																																				PASS	0.373	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			70	110	70	110	---	---	---	---
DLGAP5	9787	broad.mit.edu	37	14	55621479	55621479	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:55621479G>T	ENST00000247191.2	-	15	2135	c.1919C>A	c.(1918-1920)cCt>cAt	p.P640H	DLGAP5_ENST00000395425.2_Missense_Mutation_p.P640H	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	640					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.P640H(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GACAGACTTAGGTGTTCCAAG	0.398																																						uc001xbs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1918-1920)CCT>CAT		discs large homolog 7 isoform a							161.0	145.0	150.0					14																	55621479		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55621479G>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1919C>A	14.37:g.55621479G>T	ENSP00000247191:p.Pro640His					DLGAP5_uc001xbt.2_Missense_Mutation_p.P640H	p.P640H	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			15	2136	-			640					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1919C>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464434	0.26335	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.36340	1.26;1.26	4.01	2.11	0.27256	.	1.022170	0.07831	N	0.961398	T	0.24928	0.0605	N	0.20986	0.625	0.09310	N	1	P;B	0.41313	0.745;0.405	B;B	0.35278	0.199;0.199	T	0.16512	-1.0400	10	0.54805	T	0.06	.	10.5943	0.45327	0.0:0.0:0.6531:0.3469	.	640;640	A8MTM6;Q15398	.;DLGP5_HUMAN	H	640	ENSP00000378815:P640H;ENSP00000247191:P640H	ENSP00000247191:P640H	P	-	2	0	DLGAP5	54691232	0.650000	0.27331	0.048000	0.18961	0.947000	0.59692	0.742000	0.26216	0.608000	0.30000	0.563000	0.77884	CCT		PASS	0.398	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		6	77	6	77	---	---	---	---
ZBTB1	22890	broad.mit.edu	37	14	64989724	64989724	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:64989724G>C	ENST00000554015.1	+	4	1933	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	ZBTB1_ENST00000358738.3_Missense_Mutation_p.R501T|ZBTB1_ENST00000394712.2_Missense_Mutation_p.R501T|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	501					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R501T(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TCCGAAATAAGAGATATGTTT	0.398																																						uc001xhh.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1501-1503)AGA>ACA		zinc finger and BTB domain containing 1 isoform							116.0	116.0	116.0					14																	64989724		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64989724G>C	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1502G>C	14.37:g.64989724G>C	ENSP00000451000:p.Arg501Thr					ZBTB1_uc010aqg.2_Missense_Mutation_p.R501T|ZBTB1_uc001xhi.2_Missense_Mutation_p.R501T	p.R501T	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	1933	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	501					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.1502G>C	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	G	8.156	0.788492	0.16258	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10288	2.89;3.48;2.89	6.03	6.03	0.97812	.	0.614035	0.17926	N	0.157334	T	0.09949	0.0244	N	0.24115	0.695	0.33617	D	0.604306	P;B	0.36535	0.557;0.244	B;B	0.36092	0.217;0.074	T	0.10109	-1.0644	10	0.72032	D	0.01	-28.31	14.6738	0.68964	0.0688:0.0:0.9312:0.0	.	501;501	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	T	501	ENSP00000451000:R501T;ENSP00000351587:R501T;ENSP00000378201:R501T	ENSP00000351587:R501T	R	+	2	0	ZBTB1	64059477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.285000	0.58989	2.861000	0.98227	0.655000	0.94253	AGA		PASS	0.398	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			33	43	33	43	---	---	---	---
FAM71D	161142	broad.mit.edu	37	14	67664902	67664902	+	Silent	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:67664902T>C	ENST00000556046.1	+	3	248	c.24T>C	c.(22-24)acT>acC	p.T8T				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	8						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T8T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CCAGCAAGACTACCATGAGGA	0.408																																						uc001xja.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(22-24)ACT>ACC		hypothetical protein LOC161142							168.0	144.0	152.0					14																	67664902		2203	4300	6503	SO:0001819	synonymous_variant	161142							g.chr14:67664902T>C		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.24T>C	14.37:g.67664902T>C						FAM71D_uc010tsv.1_RNA|FAM71D_uc001xiz.2_RNA|FAM71D_uc010aqn.1_RNA	p.T8T	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)	3	278	+		all_hematologic(31;0.0116)	8					Q86VN4	Silent	SNP	ENST00000556046.1	37	c.24T>C																																																																																					PASS	0.408	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		91	84	91	84	---	---	---	---
PLEK2	26499	broad.mit.edu	37	14	67859957	67859957	+	Splice_Site	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:67859957G>A	ENST00000216446.4	-	4	531	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	131					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R131C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TCCACAATGCGACTACATGGA	0.527																																						uc001xjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(391-393)CGC>TGC		pleckstrin 2							219.0	191.0	200.0					14																	67859957		2203	4300	6503	SO:0001630	splice_region_variant	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67859957G>A	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.390-1C>T	14.37:g.67859957G>A							p.R131C	NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	443	-			131					Q96JT0	Missense_Mutation	SNP	ENST00000216446.4	37	c.391C>T	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387698	0.42308	.	.	ENSG00000100558	ENST00000216446;ENST00000554395	D;T	0.93659	-3.26;2.4	5.91	-0.771	0.11002	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.786326	0.12793	N	0.438658	D	0.83695	0.5310	N	0.14661	0.345	0.09310	N	0.99999	B	0.29612	0.251	B	0.32090	0.14	T	0.74914	-0.3502	10	0.56958	D	0.05	-1.6331	3.4899	0.07634	0.1327:0.2872:0.4076:0.1724	.	131	Q9NYT0	PLEK2_HUMAN	C	131;65	ENSP00000216446:R131C;ENSP00000450892:R65C	ENSP00000216446:R131C	R	-	1	0	PLEK2	66929710	0.954000	0.32549	0.002000	0.10522	0.300000	0.27592	1.718000	0.38001	0.092000	0.17331	0.462000	0.41574	CGC		PASS	0.527	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2		Missense_Mutation	18	104	18	104	---	---	---	---
RDH11	51109	broad.mit.edu	37	14	68151842	68151842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:68151842C>T	ENST00000381346.4	-	6	854	c.744G>A	c.(742-744)tgG>tgA	p.W248*	RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.G79E|RDH11_ENST00000428130.2_Nonsense_Mutation_p.W178*|RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000553384.1_Nonsense_Mutation_p.W235*	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	248					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.W248*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GCCACCACATCCATCTCATGA	0.517																																						uc001xjv.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(742-744)TGG>TGA		retinol dehydrogenase 11	Vitamin A(DB00162)						103.0	87.0	92.0					14																	68151842		2203	4300	6503	SO:0001587	stop_gained	51109				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr14:68151842C>T	AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.744G>A	14.37:g.68151842C>T	ENSP00000370750:p.Trp248*					RDH11_uc001xjw.3_Nonsense_Mutation_p.W235*|RDH11_uc001xjx.3_Nonsense_Mutation_p.W178*	p.W248*	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN		all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	6	834	-			248			Cytoplasmic (Potential).		A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Nonsense_Mutation	SNP	ENST00000381346.4	37	c.744G>A	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601255	0.46423	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557273	.	.	.	5.07	-2.35	0.06684	.	0.000000	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.3846	0.32493	0.1057:0.3003:0.5209:0.0732	.	.	.	.	X	248;235;178;134;161	.	ENSP00000370750:W248X	W	-	3	0	RDH11	67221595	0.000000	0.05858	0.004000	0.12327	0.822000	0.46500	0.053000	0.14184	-0.264000	0.09365	-0.274000	0.10170	TGG		PASS	0.517	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			37	39	37	39	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089506	86089506	+	Missense_Mutation	SNP	G	G	T	rs199824822		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:86089506G>T	ENST00000330753.4	+	2	2415	c.1648G>T	c.(1648-1650)Gcg>Tcg	p.A550S	FLRT2_ENST00000554746.1_Missense_Mutation_p.A550S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.A550T(1)|p.A550S(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCGGGGGCGCGGTGATATT	0.587																																						uc001xvr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1648-1650)GCG>TCG		fibronectin leucine rich transmembrane protein 2							75.0	80.0	78.0					14																	86089506		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089506G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1648G>T	14.37:g.86089506G>T	ENSP00000332879:p.Ala550Ser					FLRT2_uc010atd.2_Missense_Mutation_p.A550S	p.A550S	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2415	+			550			Helical; (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1648G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725281	0.68959	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.60920	0.15;0.15	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.64404	1.975	0.58432	D	0.999999	D	0.62365	0.991	P	0.49528	0.614	T	0.67952	-0.5537	10	0.62326	D	0.03	-16.4932	20.8794	0.99867	0.0:0.0:1.0:0.0	.	550	O43155	FLRT2_HUMAN	S	550;550;203	ENSP00000332879:A550S;ENSP00000451050:A550S	ENSP00000332879:A550S	A	+	1	0	FLRT2	85159259	1.000000	0.71417	0.143000	0.22291	0.888000	0.51559	8.061000	0.89467	2.941000	0.99782	0.655000	0.94253	GCG		PASS	0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			38	69	38	69	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92439105	92439105	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:92439105G>T	ENST00000267622.4	-	20	6048	c.5675C>A	c.(5674-5676)cCa>cAa	p.P1892Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1892					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P1892Q(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTTCTTCCTGGTGAATCCAG	0.299			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(5674-5676)CCA>CAA		thyroid hormone receptor interactor 11							164.0	184.0	178.0					14																	92439105		2203	4299	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92439105G>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5675C>A	14.37:g.92439105G>T	ENSP00000267622:p.Pro1892Gln					TRIP11_uc010auf.1_Missense_Mutation_p.P1628Q	p.P1892Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	20	6463	-			1892					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.5675C>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199800	0.79015	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04654	3.58	5.65	4.75	0.60458	.	0.229119	0.45361	D	0.000372	T	0.16471	0.0396	M	0.64997	1.995	0.36557	D	0.872184	D;D	0.67145	0.996;0.973	D;P	0.65010	0.931;0.864	T	0.03969	-1.0988	10	0.72032	D	0.01	.	12.8109	0.57639	0.0756:0.0:0.9244:0.0	.	1628;1892	F5H1Z0;Q15643	.;TRIPB_HUMAN	Q	1892;1628	ENSP00000267622:P1892Q	ENSP00000267622:P1892Q	P	-	2	0	TRIP11	91508858	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	3.109000	0.50345	1.377000	0.46286	0.650000	0.86243	CCA		PASS	0.299	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			8	251	8	251	---	---	---	---
FAM181A	90050	broad.mit.edu	37	14	94395040	94395040	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:94395040G>A	ENST00000267594.5	+	3	902	c.595G>A	c.(595-597)Gct>Act	p.A199T	FAM181A_ENST00000557719.1_Missense_Mutation_p.A137T|FAM181A_ENST00000557000.2_Missense_Mutation_p.A137T|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000556222.1_Missense_Mutation_p.A137T	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	199								p.A199T(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						ACAGCTGCCCGCTTCCTTCTG	0.612																																						uc001ybz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GCT>ACT		hypothetical protein LOC90050							29.0	35.0	33.0					14																	94395040		2203	4299	6502	SO:0001583	missense	90050							g.chr14:94395040G>A	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.595G>A	14.37:g.94395040G>A	ENSP00000267594:p.Ala199Thr					C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.A137T|FAM181A_uc001yca.1_Missense_Mutation_p.A137T	p.A199T	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			3	902	+			199					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.595G>A	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918586	0.92249	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000034	T	0.57681	0.2070	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.60219	-0.7306	10	0.54805	T	0.06	-14.5319	17.7425	0.88411	0.0:0.0:1.0:0.0	.	199	Q8N9Y4	F181A_HUMAN	T	137;199;137;137;188	ENSP00000451802:A137T;ENSP00000267594:A199T;ENSP00000451678:A137T;ENSP00000452393:A137T	ENSP00000267594:A199T	A	+	1	0	FAM181A	93464793	1.000000	0.71417	0.792000	0.32020	0.971000	0.66376	9.729000	0.98795	2.196000	0.70406	0.561000	0.74099	GCT		PASS	0.612	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		6	22	6	22	---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100157448	100157448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:100157448G>A	ENST00000261835.3	+	2	254	c.150G>A	c.(148-150)tgG>tgA	p.W50*	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	50					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.W50*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCTGCTTTTGGAAAAAGGATG	0.493																																						uc001ygo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(148-150)TGG>TGA		cytochrome P450, family 46							341.0	280.0	301.0					14																	100157448		2203	4300	6503	SO:0001587	stop_gained	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100157448G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.150G>A	14.37:g.100157448G>A	ENSP00000261835:p.Trp50*					CYP46A1_uc001ygn.1_5'UTR	p.W50*	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			2	150	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	50					B4DHP8|E7EQG9|Q8N2B0	Nonsense_Mutation	SNP	ENST00000261835.3	37	c.150G>A	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.92|19.92	3.916424|3.916424	0.73098|0.73098	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|.	.|.	.|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.400749	.|0.19862	.|N	.|0.104409	T|.	0.61123|.	0.2322|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58555|.	-0.7616|.	4|.	.|0.35671	.|T	.|0.21	.|.	11.097|11.097	0.48150|0.48150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	37|50	.|.	.|ENSP00000261835:W50X	E|W	+|+	1|3	0|0	CYP46A1|CYP46A1	99227201|99227201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.684000|2.684000	0.46951|0.46951	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GAA|TGG		PASS	0.493	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			16	84	16	84	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102489101	102489101	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:102489101G>T	ENST00000360184.4	+	43	8685	c.8521G>T	c.(8521-8523)Gag>Tag	p.E2841*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2841					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.E2841*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGTAGAGGATGAGGAGAGGCG	0.527																																						uc001yks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(8521-8523)GAG>TAG		cytoplasmic dynein 1 heavy chain 1							210.0	156.0	174.0					14																	102489101		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102489101G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8521G>T	14.37:g.102489101G>T	ENSP00000348965:p.Glu2841*					DYNC1H1_uc001ykt.1_Nonsense_Mutation_p.E332*	p.E2841*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			43	8685	+			2841					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.8521G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	51	18.169487	0.99900	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.15	5.15	0.70609	.	0.051582	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	18.624	0.91331	0.0:0.0:1.0:0.0	.	.	.	.	X	2841	.	ENSP00000348965:E2841X	E	+	1	0	DYNC1H1	101558854	1.000000	0.71417	0.990000	0.47175	0.926000	0.56050	9.730000	0.98797	2.399000	0.81585	0.453000	0.30009	GAG		PASS	0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	131	6	131	---	---	---	---
TRAF3	7187	broad.mit.edu	37	14	103336547	103336547	+	Silent	SNP	G	G	T	rs377427517		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:103336547G>T	ENST00000560371.1	+	2	226	c.9G>T	c.(7-9)tcG>tcT	p.S3S	TRAF3_ENST00000539721.1_Silent_p.S3S|TRAF3_ENST00000347662.4_Silent_p.S3S|TRAF3_ENST00000392745.2_Silent_p.S3S|TRAF3_ENST00000351691.5_Silent_p.S3S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	3					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S3S(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AAATGGAGTCGAGTAAAAAGA	0.493																																						uc001ymc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(7-9)TCG>TCT		TNF receptor-associated factor 3 isoform 1							78.0	84.0	82.0					14																	103336547		2203	4300	6503	SO:0001819	synonymous_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103336547G>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.9G>T	14.37:g.103336547G>T						TRAF3_uc001yme.1_Silent_p.S3S|TRAF3_uc001ymd.1_Silent_p.S3S|TRAF3_uc010txy.1_Silent_p.S3S	p.S3S	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	3	362	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	3					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.9G>T	CCDS9975.1																																																																																				PASS	0.493	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		6	150	6	150	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105414569	105414569	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:105414569G>A	ENST00000333244.5	-	7	7338	c.7219C>T	c.(7219-7221)Ccc>Tcc	p.P2407S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2407						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.P2407S(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)			TTGAAACTGGGCATCTGCAGC	0.622																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7219-7221)CCC>TCC		AHNAK nucleoprotein 2							127.0	141.0	137.0					14																	105414569		1844	4098	5942	SO:0001583	missense	113146					nucleus		g.chr14:105414569G>A	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.7219C>T	14.37:g.105414569G>A	ENSP00000353114:p.Pro2407Ser					AHNAK2_uc001ypx.2_Missense_Mutation_p.P2307S	p.P2407S	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	7339	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2407					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7219C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	15.23	2.771122	0.49680	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.7	3.7	0.42460	.	.	.	.	.	T	0.16171	0.0389	M	0.72353	2.195	0.33713	D	0.616052	D	0.89917	1.0	D	0.91635	0.999	T	0.18999	-1.0319	9	0.34782	T	0.22	.	15.5196	0.75854	0.0:0.0:1.0:0.0	.	2407	Q8IVF2	AHNK2_HUMAN	S	2407	ENSP00000353114:P2407S	ENSP00000353114:P2407S	P	-	1	0	AHNAK2	104485614	1.000000	0.71417	0.936000	0.37596	0.011000	0.07611	3.083000	0.50136	1.627000	0.50400	0.306000	0.20318	CCC		PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		17	286	17	286	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105418571	105418571	+	Nonsense_Mutation	SNP	C	C	A	rs368303682		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:105418571C>A	ENST00000333244.5	-	7	3336	c.3217G>T	c.(3217-3219)Gag>Tag	p.E1073*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1073						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.E1073*(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)			CCAGCTCCCTCGGGCAGGTGG	0.617																																						uc010axc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3217-3219)GAG>TAG		AHNAK nucleoprotein 2							99.0	114.0	109.0					14																	105418571		1870	4110	5980	SO:0001587	stop_gained	113146					nucleus		g.chr14:105418571C>A	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.3217G>T	14.37:g.105418571C>A	ENSP00000353114:p.Glu1073*					AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E973*	p.E1073*	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	3337	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1073					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.3217G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	40	8.499444	0.98838	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.51	1.62	0.23740	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	6.8371	0.23943	0.0:0.6879:0.0:0.3121	.	.	.	.	X	1073	.	ENSP00000353114:E1073X	E	-	1	0	AHNAK2	104489616	0.738000	0.28186	0.002000	0.10522	0.090000	0.18270	0.293000	0.19029	0.035000	0.15519	0.491000	0.48974	GAG		PASS	0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	200	7	200	---	---	---	---
IGHV3-11	28450	broad.mit.edu	37	14	106573252	106573252	+	RNA	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:106573252G>A	ENST00000390601.2	-	0	451									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		GTAATACACGGCCGTGTCCTC	0.587																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							125.0	123.0	123.0					14																	106573252		1871	4101	5972			8755							g.chr14:106573252G>A	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573252G>A														1362		-									RNA	SNP	ENST00000390601.2	37	c.29273C>T																																																																																					PASS	0.587	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		12	319	12	319	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20649655	20649655	+	RNA	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:20649655G>T	ENST00000428453.1	-	0	2543							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.G618G(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCGGCCTAGGCCTGGAGGAG	0.557																																						uc001ytg.2																			1	Substitution - coding silent(1)		lung(1)								c.(1852-1854)GGC>GGA		RecName: Full=Putative HERC2-like protein 3;							126.0	116.0	119.0					15																	20649655		2191	4274	6465			0							g.chr15:20649655G>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649655G>T						uc010tyx.1_RNA|uc001yth.3_Silent_p.G618G|uc010tyy.1_Silent_p.G618G	p.G618G							18	2563	-									Silent	SNP	ENST00000428453.1	37	c.1854C>A																																																																																					PASS	0.557	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		21	201	21	201	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382947	22382947	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:22382947C>A	ENST00000328795.4	+	1	566	c.475C>A	c.(475-477)Cag>Aag	p.Q159K	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCATTATCCAGGTGGTCCT	0.532																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(475-477)CAG>AAG		olfactory receptor, family 4, subfamily N,							89.0	76.0	81.0					15																	22382947		2187	4255	6442	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382947C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.475C>A	15.37:g.22382947C>A	ENSP00000332500:p.Gln159Lys					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.Q159K	p.Q159K	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1456	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	159			Extracellular (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.475C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.460926	0.26248	.	.	ENSG00000183706	ENST00000328795	T	0.00091	8.74	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000288	T	0.00440	0.0014	M	0.81239	2.535	0.22771	N	0.998759	D	0.89917	1.0	D	0.79108	0.992	T	0.40496	-0.9560	10	0.72032	D	0.01	-5.7626	12.5975	0.56478	0.0:1.0:0.0:0.0	.	159	Q8N0Y3	OR4N4_HUMAN	K	159	ENSP00000332500:Q159K	ENSP00000332500:Q159K	Q	+	1	0	OR4N4	19884311	0.006000	0.16342	1.000000	0.80357	0.098000	0.18820	0.461000	0.21940	1.870000	0.54199	0.404000	0.27445	CAG		PASS	0.532	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			5	89	5	89	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23889861	23889861	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:23889861G>T	ENST00000532292.1	-	1	1314	c.1220C>A	c.(1219-1221)tCc>tAc	p.S407Y		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	290	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.S407Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCACCTTGGAATTATCCTG	0.587																																						uc001ywj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)TCC>TAC		MAGE-like protein 2							43.0	44.0	44.0					15																	23889861		2010	4181	6191	SO:0001583	missense	54551							g.chr15:23889861G>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1220C>A	15.37:g.23889861G>T	ENSP00000433433:p.Ser407Tyr						p.S407Y	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1315	-		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)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1220C>A		.	.	.	.	.	.	.	.	.	.	G	1.225	-0.625905	0.03610	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.76	1.82	0.25136	.	.	.	.	.	T	0.22936	0.0554	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.22347	-1.0219	5	.	.	.	.	5.2662	0.15601	0.1139:0.2084:0.6777:0.0	.	.	.	.	T	439	.	.	P	-	1	0	MAGEL2	21440954	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.767000	0.26575	0.532000	0.28657	-0.150000	0.13652	CCA		PASS	0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		7	24	7	24	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26806138	26806138	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:26806138T>C	ENST00000311550.5	-	8	1132	c.1021A>G	c.(1021-1023)Aag>Gag	p.K341E	GABRB3_ENST00000400188.3_Missense_Mutation_p.K270E|GABRB3_ENST00000545868.1_Missense_Mutation_p.K256E|GABRB3_ENST00000541819.2_Missense_Mutation_p.K397E|GABRB3_ENST00000299267.4_Missense_Mutation_p.K341E	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	341					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.K341E(2)|p.K397E(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTGCAAGCTTCTTCTGCCTT	0.517																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1021-1023)AAG>GAG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						176.0	186.0	183.0					15																	26806138		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806138T>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1021A>G	15.37:g.26806138T>C	ENSP00000308725:p.Lys341Glu					GABRB3_uc010uae.1_Missense_Mutation_p.K256E|GABRB3_uc001zba.2_Missense_Mutation_p.K341E|GABRB3_uc001zbb.2_Missense_Mutation_p.K397E	p.K341E	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1163	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	341			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1021A>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.915057	0.72983	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	D	0.87791	0.6266	M	0.85373	2.75	0.80722	D	1	B;B;B	0.30793	0.136;0.065;0.295	B;B;B	0.36186	0.049;0.048;0.219	D	0.87307	0.2309	9	0.48119	T	0.1	.	14.264	0.66104	0.0:0.0:0.0:1.0	.	397;341;341	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	E	341;397;341;270;256	ENSP00000308725:K341E;ENSP00000442408:K397E;ENSP00000299267:K341E;ENSP00000383049:K270E;ENSP00000439169:K256E	ENSP00000299267:K341E	K	-	1	0	GABRB3	24357231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.801000	0.85960	1.958000	0.56883	0.533000	0.62120	AAG		PASS	0.517	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			26	66	26	66	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28370265	28370265	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:28370265G>T	ENST00000261609.7	-	84	12985	c.12877C>A	c.(12877-12879)Cgg>Agg	p.R4293R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R4293R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTACCAACCGAGGCCTCTGG	0.552																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12877-12879)CGG>AGG		hect domain and RLD 2							212.0	195.0	200.0					15																	28370265		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370265G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12877C>A	15.37:g.28370265G>T							p.R4293R	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12983	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4293			RCC1 19.			Silent	SNP	ENST00000261609.7	37	c.12877C>A	CCDS10021.1																																																																																				PASS	0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	151	5	151	---	---	---	---
CASC4	113201	broad.mit.edu	37	15	44695177	44695177	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:44695177T>A	ENST00000299957.6	+	9	1464	c.1165T>A	c.(1165-1167)Tat>Aat	p.Y389N	CASC4_ENST00000360824.3_Intron|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000345795.2_Intron	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	389						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Y389N(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CGTAGGTGAGTATGAGGCAGA	0.517																																						uc001zto.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1165-1167)TAT>AAT		cancer susceptibility candidate 4 isoform a							142.0	110.0	121.0					15																	44695177		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44695177T>A	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.1165T>A	15.37:g.44695177T>A	ENSP00000299957:p.Tyr389Asn					CASC4_uc001ztp.2_Missense_Mutation_p.Y389N|CASC4_uc001ztq.2_Intron	p.Y389N	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	9	1464	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	389			Lumenal (Potential).		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000299957.6	37	c.1165T>A	CCDS10108.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621815	0.87460	.	.	ENSG00000166734	ENST00000299957;ENST00000416522	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.74711	0.3752	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.923	T	0.69884	-0.5024	9	0.18710	T	0.47	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	389;389	G5E934;Q6P4E1	.;CASC4_HUMAN	N	389;368	.	ENSP00000299957:Y389N	Y	+	1	0	CASC4	42482469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.326000	0.78906	0.533000	0.62120	TAT		PASS	0.517	CASC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253815.1	NM_138423		15	38	15	38	---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51696617	51696617	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:51696617G>T	ENST00000335449.6	+	10	1378	c.1322G>T	c.(1321-1323)aGt>aTt	p.S441I	GLDN_ENST00000396399.2_Missense_Mutation_p.S317I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	441	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S441I(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TATGCGTCAAGTGTGGACGGC	0.428																																						uc002aba.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1321-1323)AGT>ATT		gliomedin							154.0	148.0	150.0					15																	51696617		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696617G>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1322G>T	15.37:g.51696617G>T	ENSP00000335196:p.Ser441Ile					GLDN_uc002abb.2_Missense_Mutation_p.S317I	p.S441I	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1491	+			441			Extracellular (Potential).|Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1322G>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634806	0.47049	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.90504	-2.68;-2.68	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.50627	D	0.000104	D	0.93044	0.7786	L	0.46157	1.445	0.48511	D	0.999662	D	0.89917	1.0	D	0.77004	0.989	D	0.93188	0.6580	10	0.87932	D	0	.	13.1002	0.59216	0.073:0.0:0.927:0.0	.	441	Q6ZMI3	GLDN_HUMAN	I	441;317;317	ENSP00000335196:S441I;ENSP00000379681:S317I	ENSP00000335196:S441I	S	+	2	0	GLDN	49483909	1.000000	0.71417	0.863000	0.33907	0.107000	0.19398	3.871000	0.56077	2.711000	0.92665	0.563000	0.77884	AGT		PASS	0.428	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		24	108	24	108	---	---	---	---
GCNT3	9245	broad.mit.edu	37	15	59910702	59910702	+	Missense_Mutation	SNP	C	C	A	rs547677269		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:59910702C>A	ENST00000396065.1	+	3	713	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	GCNT3_ENST00000560585.1_Missense_Mutation_p.L89M	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	89					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.L89M(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTGAATAACCTGGAGGTCAA	0.488																																						uc002age.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(265-267)CTG>ATG		glucosaminyl (N-acetyl) transferase 3, mucin							95.0	103.0	101.0					15																	59910702		2190	4290	6480	SO:0001583	missense	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910702C>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.265C>A	15.37:g.59910702C>A	ENSP00000379377:p.Leu89Met					GCNT3_uc002agd.2_Missense_Mutation_p.L89M	p.L89M	NM_004751	NP_004742	O95395	GCNT3_HUMAN			3	714	+			89			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000396065.1	37	c.265C>A	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107205	0.37145	.	.	ENSG00000140297	ENST00000396065	T	0.58940	0.3	6.16	3.28	0.37604	.	0.682532	0.13882	N	0.356247	T	0.73458	0.3589	M	0.85859	2.78	0.36538	D	0.871112	D	0.69078	0.997	P	0.59761	0.863	T	0.78476	-0.2189	10	0.62326	D	0.03	.	10.6347	0.45558	0.0:0.799:0.0:0.201	.	89	O95395	GCNT3_HUMAN	M	89	ENSP00000379377:L89M	ENSP00000379377:L89M	L	+	1	2	GCNT3	57697994	0.076000	0.21285	0.790000	0.31976	0.168000	0.22595	0.498000	0.22530	0.950000	0.37743	-0.142000	0.14014	CTG		PASS	0.488	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		22	53	22	53	---	---	---	---
KIAA0101	9768	broad.mit.edu	37	15	64669065	64669065	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:64669065C>G	ENST00000300035.4	-	3	305	c.167G>C	c.(166-168)cGc>cCc	p.R56P	KIAA0101_ENST00000558008.1_Missense_Mutation_p.R56P|KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R29P	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	56					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)	p.R56P(1)		central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGAGTTGGGCGCACGCAAAC	0.393																																						uc002ank.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(166-168)CGC>CCC		hypothetical protein LOC9768 isoform 1							49.0	50.0	50.0					15																	64669065		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64669065C>G	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.167G>C	15.37:g.64669065C>G	ENSP00000300035:p.Arg56Pro					KIAA0101_uc002anl.2_Intron	p.R56P	NM_014736	NP_055551	Q15004	PAF_HUMAN			3	299	-			56					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.167G>C	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460090	0.84317	.	.	ENSG00000166803	ENST00000300035	T	0.59083	0.29	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.75777	2.31	0.80722	D	1	D	0.63046	0.992	P	0.60473	0.875	T	0.77284	-0.2645	10	0.72032	D	0.01	-33.3191	18.078	0.89433	0.0:1.0:0.0:0.0	.	56	Q15004	PAF_HUMAN	P	56	ENSP00000300035:R56P	ENSP00000300035:R56P	R	-	2	0	KIAA0101	62456118	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.852000	0.75430	2.566000	0.86566	0.585000	0.79938	CGC		PASS	0.393	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		9	26	9	26	---	---	---	---
HEXA	3073	broad.mit.edu	37	15	72668061	72668061	+	Splice_Site	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:72668061C>T	ENST00000268097.5	-	1	756	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000457859.2_5'UTR|HEXA-AS1_ENST00000567598.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000566304.1_Splice_Site_p.G85S|HEXA_ENST00000567159.1_Splice_Site_p.G85R	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	85					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.G85R(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCCGACTCACCTGTGAGGTAA	0.657																																						uc002aun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(253-255)GGG>AGG		hexosaminidase A preproprotein							67.0	73.0	71.0					15																	72668061		2199	4297	6496	SO:0001630	splice_region_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668061C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.253+1G>A	15.37:g.72668061C>T						CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.G85S|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Missense_Mutation_p.G85R|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank	p.G85R	NM_000520	NP_000511	P06865	HEXA_HUMAN			1	460	-			85					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.253G>A	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319494	0.41096	.	.	ENSG00000213614	ENST00000268097	D	0.86956	-2.19	4.72	1.68	0.24146	Acetylhexosaminidase, subunit a/b (1);	2.243440	0.01411	N	0.013981	T	0.73768	0.3629	N	0.04959	-0.14	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58657	-0.7598	9	.	.	.	.	6.0504	0.19783	0.0:0.6545:0.0:0.3455	.	85	P06865	HEXA_HUMAN	R	85	ENSP00000268097:G85R	.	G	-	1	0	HEXA	70455115	0.907000	0.30839	0.133000	0.22050	0.047000	0.14425	0.756000	0.26419	0.172000	0.19760	0.650000	0.86243	GGG		PASS	0.657	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	Missense_Mutation	6	103	6	103	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75014644	75014644	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:75014644C>T	ENST00000379727.3	-	2	993	c.795G>A	c.(793-795)atG>atA	p.M265I	CYP1A1_ENST00000395049.4_Missense_Mutation_p.M265I|CYP1A1_ENST00000564596.1_Missense_Mutation_p.M4I|CYP1A1_ENST00000567032.1_Missense_Mutation_p.M265I|CYP1A1_ENST00000395048.2_Missense_Mutation_p.M265I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	265					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.M265I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GCTCCTTGACCATCTTCTGCA	0.512									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(793-795)ATG>ATA		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						97.0	88.0	91.0					15																	75014644		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014644C>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.795G>A	15.37:g.75014644C>T	ENSP00000369050:p.Met265Ile					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.M1I|CYP1A1_uc010bjx.2_Missense_Mutation_p.M1I|CYP1A1_uc002ayq.3_Missense_Mutation_p.M265I|CYP1A1_uc010bjy.2_Missense_Mutation_p.M265I|CYP1A1_uc010bjz.1_Missense_Mutation_p.M1I	p.M265I	NM_000499	NP_000490	P04798	CP1A1_HUMAN			2	917	-			265					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.795G>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.273558	0.00257	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.66280	-0.2;-0.2;-0.2	5.0	0.753	0.18404	.	0.593735	0.19831	N	0.105083	T	0.19406	0.0466	N	0.01076	-1.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.23404	-1.0189	10	0.02654	T	1	.	0.5318	0.00630	0.1804:0.2499:0.2164:0.3532	.	265;265	E7EMT5;P04798	.;CP1A1_HUMAN	I	265;265;265;237	ENSP00000369050:M265I;ENSP00000378488:M265I;ENSP00000378489:M265I	ENSP00000268062:M237I	M	-	3	0	CYP1A1	72801697	0.002000	0.14202	0.001000	0.08648	0.349000	0.29174	-0.072000	0.11486	-0.129000	0.11620	0.555000	0.69702	ATG		PASS	0.512	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		16	31	16	31	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80806299	80806299	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:80806299C>G	ENST00000303329.4	+	7	938	c.773C>G	c.(772-774)aCc>aGc	p.T258S	ARNT2_ENST00000533983.1_Missense_Mutation_p.T247S|ARNT2_ENST00000527771.1_Missense_Mutation_p.T247S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	258					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T258S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGAATAACCACCATGAGGAAA	0.413																																						uc002bfr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(772-774)ACC>AGC		aryl hydrocarbon receptor nuclear translocator							116.0	99.0	105.0					15																	80806299		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80806299C>G	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.773C>G	15.37:g.80806299C>G	ENSP00000307479:p.Thr258Ser					ARNT2_uc010unm.1_Missense_Mutation_p.T247S|ARNT2_uc002bfs.2_Missense_Mutation_p.T247S	p.T258S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		7	939	+			258					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.773C>G	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194867	0.22037	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.05580	3.42	4.88	4.88	0.63580	.	0.109028	0.64402	D	0.000008	T	0.05456	0.0144	N	0.22421	0.69	0.43453	D	0.995643	B	0.02656	0.0	B	0.06405	0.002	T	0.43925	-0.9361	10	0.21014	T	0.42	.	15.0489	0.71850	0.0:1.0:0.0:0.0	.	258	Q9HBZ2	ARNT2_HUMAN	S	247;258;258	ENSP00000307479:T258S	ENSP00000307479:T258S	T	+	2	0	ARNT2	78593354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.568000	0.45965	2.522000	0.85027	0.585000	0.79938	ACC		PASS	0.413	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			29	25	29	25	---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90904301	90904301	+	Missense_Mutation	SNP	A	A	G	rs141917260		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:90904301A>G	ENST00000354377.3	+	4	1424	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N413S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGAGCTTCAATCAGAGCTCC	0.512													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16824	0.0		0.0	False		,,,				2504	0.0					uc002bpk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1237-1239)AAT>AGT		zinc finger protein 774		G	SER/ASN	2,4396	4.2+/-10.8	0,2,2197	76.0	70.0	72.0		1238	-6.1	0.0	15	dbSNP_134	72	0,8596		0,0,4298	no	missense	ZNF774	NM_001004309.2	46	0,2,6495	GG,GA,AA		0.0,0.0455,0.0154	benign	413/484	90904301	2,12992	2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90904301A>G	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1238A>G	15.37:g.90904301A>G	ENSP00000346348:p.Asn413Ser						p.N413S	NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	1424	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		413			C2H2-type 10.		A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.1238A>G	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	a	0.074	-1.196708	0.01594	4.55E-4	0.0	ENSG00000196391	ENST00000354377	T	0.16073	2.37	5.53	-6.14	0.02111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.402007	0.17971	N	0.155876	T	0.03220	0.0094	N	0.00517	-1.405	0.48236	D	0.999616	B	0.02656	0.0	B	0.11329	0.006	T	0.43814	-0.9368	10	0.02654	T	1	.	14.2351	0.65922	0.1757:0.1188:0.7055:0.0	.	413	Q6NX45	ZN774_HUMAN	S	413	ENSP00000346348:N413S	ENSP00000346348:N413S	N	+	2	0	ZNF774	88705305	0.000000	0.05858	0.032000	0.17829	0.838000	0.47535	-1.859000	0.01657	-1.208000	0.02634	-0.971000	0.02607	AAT		PASS	0.512	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		9	40	9	40	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91527314	91527314	+	Missense_Mutation	SNP	T	T	G	rs201341541		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:91527314T>G	ENST00000361188.5	-	3	1412	c.201A>C	c.(199-201)aaA>aaC	p.K67N	PRC1_ENST00000361919.3_Missense_Mutation_p.K67N|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.K67N|PRC1_ENST00000556129.1_5'UTR					protein regulator of cytokinesis 1									p.K67N(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)					CGGATATGCTTTTGATGAGTC	0.483																																						uc002bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(199-201)AAA>AAC		protein regulator of cytokinesis 1 isoform 1							268.0	261.0	264.0					15																	91527314		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91527314T>G	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.201A>C	15.37:g.91527314T>G	ENSP00000354679:p.Lys67Asn					PRC1_uc002bqn.2_Missense_Mutation_p.K67N|PRC1_uc002bqo.2_Missense_Mutation_p.K67N|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.K15N	p.K67N	NM_003981	NP_003972	O43663	PRC1_HUMAN			3	358	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		67			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.201A>C	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914186	0.72983	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188	T;T;T	0.31769	1.48;1.48;1.48	4.93	-1.52	0.08637	.	0.127197	0.50627	D	0.000107	T	0.46718	0.1407	M	0.74258	2.255	0.39248	D	0.96398	D;P;P;P	0.56287	0.975;0.619;0.619;0.792	P;B;B;P	0.60012	0.867;0.288;0.406;0.542	T	0.49437	-0.8940	10	0.44086	T	0.13	.	13.3019	0.60330	0.0:0.6829:0.0:0.3171	.	15;67;67;67	B4E238;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	N	67	ENSP00000377793:K67N;ENSP00000354618:K67N;ENSP00000354679:K67N	ENSP00000354679:K67N	K	-	3	2	PRC1	89328318	0.985000	0.35326	0.986000	0.45419	0.915000	0.54546	0.007000	0.13174	-0.450000	0.07107	0.459000	0.35465	AAA		PASS	0.483	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		22	270	22	270	---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358526	102358526	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr15:102358526T>A	ENST00000332238.4	+	1	161	c.137T>A	c.(136-138)gTa>gAa	p.V46E		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V46E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTTGTCATTGTATTCACTGTA	0.433																																						uc010uts.1																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GTA>GAA		olfactory receptor, family 4, subfamily F,							269.0	231.0	244.0					15																	102358526		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358526T>A	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.137T>A	15.37:g.102358526T>A	ENSP00000333184:p.Val46Glu						p.V46E	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	137	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		46			Helical; Name=1; (Potential).		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.137T>A	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	15.14	2.743642	0.49151	.	.	ENSG00000182854	ENST00000332238	T	0.00532	6.75	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.123571	0.36167	N	0.002749	T	0.02727	0.0082	M	0.93016	3.37	0.40509	D	0.980723	D	0.56968	0.978	P	0.59825	0.864	T	0.10359	-1.0633	9	.	.	.	.	13.7375	0.62827	0.0:0.0:0.0:1.0	.	46	Q8NGB8	O4F15_HUMAN	E	46	ENSP00000333184:V46E	.	V	+	2	0	OR4F15	100176049	0.474000	0.25886	0.989000	0.46669	0.064000	0.16182	3.092000	0.50207	2.340000	0.79590	0.528000	0.53228	GTA		PASS	0.433	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		20	86	20	86	---	---	---	---
ZSCAN32	54925	broad.mit.edu	37	16	3434632	3434632	+	Missense_Mutation	SNP	G	G	T	rs149193108	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:3434632G>T	ENST00000396852.4	-	6	1368	c.1061C>A	c.(1060-1062)cCt>cAt	p.P354H	ZSCAN32_ENST00000439568.2_Missense_Mutation_p.P65H|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.P142H|NAA60_ENST00000576906.1_3'UTR|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.P354H|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.P65H|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.P354H|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.P142H	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	354					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P142H(1)									TTCTTGGCCAGGAACAGCATC	0.532																																						uc002cuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(424-426)CCT>CAT		zinc finger protein 434							129.0	126.0	127.0					16																	3434632		2197	4300	6497	SO:0001583	missense	54925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3434632G>T	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1061C>A	16.37:g.3434632G>T	ENSP00000380061:p.Pro354His					ZNF434_uc002cux.3_Missense_Mutation_p.P353H|ZNF434_uc010uwx.1_Missense_Mutation_p.P65H|ZNF434_uc002cuy.3_Missense_Mutation_p.P65H|ZNF434_uc010uwy.1_Missense_Mutation_p.P65H|ZNF434_uc010uwz.1_Missense_Mutation_p.P353H|ZNF434_uc010uxa.1_Missense_Mutation_p.P142H	p.P142H	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN			5	1227	-			142					B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.425C>A		.	.	.	.	.	.	.	.	.	.	G	10.86	1.468715	0.26335	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.16073	2.99;3.04;3.04;3.01;2.37	3.21	1.16	0.20824	.	.	.	.	.	T	0.21631	0.0521	L	0.27053	0.805	0.09310	N	1	D;D;D	0.89917	1.0;0.998;0.992	D;P;P	0.64144	0.922;0.907;0.737	T	0.11743	-1.0575	9	0.52906	T	0.07	.	5.9151	0.19050	0.2589:0.0:0.7411:0.0	.	142;142;354	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	H	142;354;354;65;142	ENSP00000302502:P142H;ENSP00000380061:P354H;ENSP00000380057:P354H;ENSP00000391787:P65H;ENSP00000407312:P142H	ENSP00000302502:P142H	P	-	2	0	ZNF434	3374633	0.230000	0.23740	0.029000	0.17559	0.894000	0.52154	1.022000	0.30052	0.054000	0.16065	0.609000	0.83330	CCT		PASS	0.532	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		6	92	6	92	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11009505	11009505	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:11009505G>T	ENST00000324288.8	+	14	3100	c.2967G>T	c.(2965-2967)ctG>ctT	p.L989L	CIITA_ENST00000381835.5_Silent_p.L405L	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	989			Missing (in BLS2).		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.L989L(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCAGCATCTGGAGTGAGTAT	0.577			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2965-2967)CTG>CTT		class II transactivator							80.0	75.0	77.0					16																	11009505		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11009505G>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2967G>T	16.37:g.11009505G>T						CIITA_uc002daj.3_Silent_p.L990L|CIITA_uc002dak.3_Silent_p.L405L	p.L989L	NM_000246	NP_000237	P33076	C2TA_HUMAN			14	3100	+			989		Missing (in BLS2).	LRR 1.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.2967G>T	CCDS10544.1																																																																																				PASS	0.577	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		5	36	5	36	---	---	---	---
GSPT1	2935	broad.mit.edu	37	16	11979113	11979113	+	Silent	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:11979113T>C	ENST00000563468.1	-	8	884	c.858A>G	c.(856-858)ccA>ccG	p.P286P	RP11-166B2.3_ENST00000568144.1_RNA|GSPT1_ENST00000434724.2_Silent_p.P424P|GSPT1_ENST00000564790.1_5'UTR|GSPT1_ENST00000420576.2_Silent_p.P286P|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Silent_p.P423P			P15170	ERF3A_HUMAN	G1 to S phase transition 1	286	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)	p.P286P(1)|p.P424P(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TATCCAGATATGGAATAAACG	0.343																																						uc002dbr.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(856-858)CCA>CCG		G1 to S phase transition 1 isoform 3							69.0	62.0	64.0					16																	11979113		1883	4148	6031	SO:0001819	synonymous_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11979113T>C	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.858A>G	16.37:g.11979113T>C						GSPT1_uc002dbu.2_Silent_p.P423P|GSPT1_uc002dbt.2_Silent_p.P424P|GSPT1_uc010bux.2_Silent_p.P286P	p.P286P	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN			8	885	-			286					J3KQG6|Q96GF2	Silent	SNP	ENST00000563468.1	37	c.858A>G	CCDS45414.1																																																																																				PASS	0.343	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		15	24	15	24	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29909221	29909221	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:29909221A>G	ENST00000308713.5	-	2	691	c.164T>C	c.(163-165)cTt>cCt	p.L55P	SEZ6L2_ENST00000562159.1_5'UTR|ASPHD1_ENST00000483405.1_5'Flank|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L55P|SEZ6L2_ENST00000537485.1_Intron|ASPHD1_ENST00000308748.5_5'Flank|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L55P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	55					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.L55P(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCCCATGAAGCAGTTCAGC	0.637																																						uc002duq.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(163-165)CTT>CCT		seizure related 6 homolog (mouse)-like 2 isoform							58.0	63.0	62.0					16																	29909221		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29909221A>G	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.164T>C	16.37:g.29909221A>G	ENSP00000312550:p.Leu55Pro					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.L55P|SEZ6L2_uc002dur.3_Missense_Mutation_p.L55P|SEZ6L2_uc002dus.3_Missense_Mutation_p.L55P|SEZ6L2_uc010vec.1_Missense_Mutation_p.L55P|SEZ6L2_uc010ved.1_Intron|ASPHD1_uc002dut.2_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	p.L55P	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			2	404	-			55			Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.164T>C	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257796	0.59321	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932	T;T;T	0.54479	0.57;0.95;0.95	4.96	4.96	0.65561	.	0.501136	0.16642	N	0.205584	T	0.43100	0.1232	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P	0.44090	0.826;0.651;0.763;0.826;0.763	B;B;P;B;P	0.46825	0.328;0.328;0.528;0.328;0.528	T	0.29150	-1.0021	10	0.30078	T	0.28	.	13.6385	0.62235	1.0:0.0:0.0:0.0	.	55;55;55;55;55	B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	P	55	ENSP00000310206:L55P;ENSP00000312550:L55P;ENSP00000319215:L55P	ENSP00000312550:L55P	L	-	2	0	SEZ6L2	29816722	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.074000	0.71253	1.861000	0.53984	0.379000	0.24179	CTT		PASS	0.637	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		13	48	13	48	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53476745	53476745	+	Missense_Mutation	SNP	C	C	A	rs376376448		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:53476745C>A	ENST00000262133.6	+	3	684	c.547C>A	c.(547-549)Cgt>Agt	p.R183S	RNU6-1153P_ENST00000516760.1_RNA	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	183					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.R183S(1)|p.R183C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAGCAACCTCGTCAGCAGCG	0.393																																						uc002ehi.3																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(547-549)CGT>AGT		retinoblastoma-like 2 (p130)							58.0	61.0	60.0					16																	53476745		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53476745C>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.547C>A	16.37:g.53476745C>A	ENSP00000262133:p.Arg183Ser					RBL2_uc010vgv.1_Missense_Mutation_p.R109S	p.R183S	NM_005611	NP_005602	Q08999	RBL2_HUMAN			3	665	+			183					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.547C>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901633	0.92035	.	.	ENSG00000103479	ENST00000262133;ENST00000544405	T;T	0.74106	-0.81;-0.81	5.74	5.74	0.90152	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	L	0.58810	1.83	0.80722	D	1	D;P	0.55605	0.972;0.956	P;P	0.60236	0.871;0.577	T	0.81420	-0.0941	10	0.45353	T	0.12	-16.471	19.9533	0.97211	0.0:1.0:0.0:0.0	.	183;183	Q8NE70;Q08999	.;RBL2_HUMAN	S	183;109	ENSP00000262133:R183S;ENSP00000443744:R109S	ENSP00000262133:R183S	R	+	1	0	RBL2	52034246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.935000	0.70145	2.881000	0.98747	0.650000	0.86243	CGT		PASS	0.393	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		4	35	4	35	---	---	---	---
CCDC102A	92922	broad.mit.edu	37	16	57555030	57555030	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:57555030T>G	ENST00000258214.2	-	4	1117	c.871A>C	c.(871-873)Aag>Cag	p.K291Q		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	291								p.K291Q(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TACTTGATCTTCCACTGGCTG	0.582																																						uc002elw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(871-873)AAG>CAG		coiled-coil domain containing 102A							174.0	148.0	157.0					16																	57555030		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57555030T>G	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.871A>C	16.37:g.57555030T>G	ENSP00000258214:p.Lys291Gln						p.K291Q	NM_033212	NP_149989	Q96A19	C102A_HUMAN			4	1084	-			291			Potential.		Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.871A>C	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328083	0.81690	.	.	ENSG00000135736	ENST00000258214	T	0.57436	0.4	4.73	4.73	0.59995	.	0.109398	0.64402	D	0.000012	T	0.68091	0.2963	M	0.73962	2.25	0.58432	D	0.999996	D	0.89917	1.0	D	0.74674	0.984	T	0.66035	-0.6023	10	0.14252	T	0.57	-57.6334	13.7394	0.62838	0.0:0.0:0.0:1.0	.	291	Q96A19	C102A_HUMAN	Q	291	ENSP00000258214:K291Q	ENSP00000258214:K291Q	K	-	1	0	CCDC102A	56112531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.332000	0.79203	1.903000	0.55091	0.374000	0.22700	AAG		PASS	0.582	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		26	102	26	102	---	---	---	---
CES2	8824	broad.mit.edu	37	16	66977823	66977823	+	Silent	SNP	G	G	T	rs201998093		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:66977823G>T	ENST00000317091.4	+	12	2751	c.1767G>T	c.(1765-1767)gcG>gcT	p.A589A	CES2_ENST00000417689.1_Silent_p.A573A|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	525					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.A589A(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	TACAGCCTGCGGTGGGCCGGG	0.612																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1765-1767)GCG>GCT		carboxylesterase 2 isoform 1							31.0	31.0	31.0					16																	66977823		2200	4300	6500	SO:0001819	synonymous_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66977823G>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1767G>T	16.37:g.66977823G>T						CES2_uc002eqq.2_Silent_p.A573A|CES2_uc002eqs.2_Silent_p.A432A	p.A589A	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	12	2767	+		Ovarian(137;0.0563)	525					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	ENST00000317091.4	37	c.1767G>T	CCDS10825.1																																																																																				PASS	0.612	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		11	17	11	17	---	---	---	---
TANGO6	79613	broad.mit.edu	37	16	68894080	68894080	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr16:68894080C>T	ENST00000261778.1	+	2	400	c.388C>T	c.(388-390)Cct>Tct	p.P130S		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	130						integral component of membrane (GO:0016021)		p.P130S(1)									GGAAGTTGCTCCTGCCCTGAG	0.483																																						uc002ewi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CCT>TCT		transmembrane and coiled-coil domains 7							193.0	186.0	188.0					16																	68894080		1962	4170	6132	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68894080C>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.388C>T	16.37:g.68894080C>T	ENSP00000261778:p.Pro130Ser					TMCO7_uc002ewh.2_Missense_Mutation_p.P130S	p.P130S	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	2	400	+		Ovarian(137;0.0568)	130					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.388C>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319988	0.81469	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.79545	0.4464	M	0.76002	2.32	0.53688	D	0.999974	D	0.89917	1.0	D	0.83275	0.996	T	0.81686	-0.0820	8	0.66056	D	0.02	-6.6311	17.5878	0.87987	0.0:1.0:0.0:0.0	.	130	Q9C0B7	TMCO7_HUMAN	S	130	.	ENSP00000261778:P130S	P	+	1	0	TMCO7	67451581	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.320000	0.72876	2.445000	0.82738	0.561000	0.74099	CCT		PASS	0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		67	123	67	123	---	---	---	---
METTL16	79066	broad.mit.edu	37	17	2381044	2381044	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:2381044C>A	ENST00000263092.6	-	3	391	c.264G>T	c.(262-264)tgG>tgT	p.W88C	METTL16_ENST00000538844.1_5'UTR|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	88							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.W88C(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GATCTTCTACCCAGTGAATAT	0.383																																						uc002fut.2																			2	Substitution - Missense(2)		lung(2)		0						c.(262-264)TGG>TGT		methyltransferase 10 domain containing							145.0	138.0	140.0					17																	2381044		1820	4083	5903	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2381044C>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.264G>T	17.37:g.2381044C>A	ENSP00000263092:p.Trp88Cys					METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Missense_Mutation_p.W88C|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_5'UTR	p.W88C	NM_024086	NP_076991	Q86W50	MET16_HUMAN			3	412	-			88					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.264G>T	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573457	0.86542	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.17528	2.27	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.91635	0.965;0.999	T	0.33394	-0.9870	10	0.72032	D	0.01	-11.3172	18.1573	0.89696	0.0:1.0:0.0:0.0	.	88;88	Q86W50-2;Q86W50	.;MET16_HUMAN	C	88	ENSP00000263092:W88C	ENSP00000263092:W88C	W	-	3	0	METTL16	2327794	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.695000	0.84257	2.894000	0.99253	0.655000	0.94253	TGG		PASS	0.383	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		6	76	6	76	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5033921	5033921	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:5033921G>T	ENST00000574788.1	+	11	2327	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.D33Y|USP6_ENST00000332776.4_Missense_Mutation_p.D33Y|USP6_ENST00000572429.1_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	33					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.D33Y(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCTGCCAGAGGACAAGGGGCC	0.587			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(97-99)GAC>TAC		ubiquitin specific protease 6							133.0	147.0	143.0					17																	5033921		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5033921G>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.97G>T	17.37:g.5033921G>T	ENSP00000460380:p.Asp33Tyr					USP6_uc002gav.1_Missense_Mutation_p.D33Y|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.D33Y	p.D33Y	NM_004505	NP_004496	P35125	UBP6_HUMAN			11	2327	+			33					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.97G>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	6.808	0.518192	0.13005	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000396805	T;T	0.52526	0.66;0.66	0.0465	0.0465	0.14256	.	0.094031	0.64402	D	0.000001	T	0.41003	0.1140	M	0.79926	2.475	0.38355	D	0.944434	P;P	0.50156	0.932;0.932	B;B	0.34824	0.19;0.137	T	0.52510	-0.8566	9	0.87932	D	0	.	.	.	.	.	33;33	B9A6N0;P35125	.;UBP6_HUMAN	Y	33	ENSP00000328010:D33Y;ENSP00000250066:D33Y	ENSP00000250066:D33Y	D	+	1	0	USP6	4974645	0.898000	0.30612	0.035000	0.18076	0.035000	0.12851	0.206000	0.17375	0.132000	0.18615	0.134000	0.15878	GAC		PASS	0.587	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	57	6	57	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578415	7578415	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:7578415A>C	ENST00000269305.4	-	5	704	c.515T>G	c.(514-516)gTt>gGt	p.V172G	TP53_ENST00000445888.2_Missense_Mutation_p.V172G|TP53_ENST00000359597.4_Missense_Mutation_p.V172G|TP53_ENST00000420246.2_Missense_Mutation_p.V172G|TP53_ENST00000455263.2_Missense_Mutation_p.V172G|TP53_ENST00000413465.2_Missense_Mutation_p.V172G|TP53_ENST00000574684.1_5'UTR	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	172	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V172D(8)|p.V172G(6)|p.V172A(4)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V40G(1)|p.H168fs*69(1)|p.V79G(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.V172_E180delVVRRCPHHE(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)	GCGCCTCACAACCTCCGTCAT	0.657		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		41	Substitution - Missense(20)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)	p.V172F(10)|p.V172D(8)|p.V172I(7)|p.0?(7)|p.V172V(4)|p.V172A(4)|p.V172fs*2(3)|p.V172G(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171_V172delEV(1)	lung(6)|large_intestine(5)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|breast(4)|stomach(3)|oesophagus(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|prostate(2)|kidney(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(514-516)GTT>GGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	51.0	52.0					17																	7578415		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578415A>C	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.515T>G	17.37:g.7578415A>C	ENSP00000269305:p.Val172Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V172G|TP53_uc002gih.2_Missense_Mutation_p.V172G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V40G|TP53_uc010cng.1_Missense_Mutation_p.V40G|TP53_uc002gii.1_Missense_Mutation_p.V40G|TP53_uc010cnh.1_Missense_Mutation_p.V172G|TP53_uc010cni.1_Missense_Mutation_p.V172G|TP53_uc002gij.2_Missense_Mutation_p.V172G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V79G|TP53_uc002gio.2_Missense_Mutation_p.V40G|TP53_uc010vug.1_Missense_Mutation_p.V133G	p.V172G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	709	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	172		V -> A (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.515T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179774	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.063062	0.64402	D	0.000008	D	0.99864	0.9936	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.992;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.934;0.999;0.997;1.0;1.0	D	0.96400	0.9296	10	0.87932	D	0	-20.1368	14.037	0.64651	1.0:0.0:0.0:0.0	.	133;172;172;79;172;172;172	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	172;172;172;172;172;172;161;79;40;79;40	ENSP00000410739:V172G;ENSP00000352610:V172G;ENSP00000269305:V172G;ENSP00000398846:V172G;ENSP00000391127:V172G;ENSP00000391478:V172G;ENSP00000425104:V40G;ENSP00000423862:V79G	ENSP00000269305:V172G	V	-	2	0	TP53	7519140	1.000000	0.71417	0.667000	0.29798	0.432000	0.31715	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	GTT		PASS	0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	16	12	16	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19284863	19284863	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:19284863C>T	ENST00000308406.5	+	4	1727	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Silent_p.D308D|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.D447D|MAPK7_ENST00000395604.3_Silent_p.D447D	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	447	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.D447D(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTGCACCTGACACCATTGATC	0.597																																						uc002gvn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(1339-1341)GAC>GAT		mitogen-activated protein kinase 7 isoform 1							61.0	67.0	65.0					17																	19284863		2203	4300	6503	SO:0001819	synonymous_variant	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284863C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1341C>T	17.37:g.19284863C>T						MAPK7_uc002gvo.2_Silent_p.D308D|MAPK7_uc002gvq.2_Silent_p.D447D|MAPK7_uc002gvp.2_Silent_p.D447D	p.D447D	NM_139033	NP_620602	Q13164	MK07_HUMAN			4	1727	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		447			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	c.1341C>T	CCDS11206.1																																																																																				PASS	0.597	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		8	17	8	17	---	---	---	---
ERAL1	26284	broad.mit.edu	37	17	27186253	27186253	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:27186253G>T	ENST00000254928.5	+	9	1240	c.1143G>T	c.(1141-1143)ggG>ggT	p.G381G	MIR144_ENST00000385059.1_lincRNA|MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000384886.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	381	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.G381G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GACCAGGTGGGGAGCTGGTTA	0.493																																						uc002hcy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1141-1143)GGG>GGT		Era-like 1							132.0	132.0	132.0					17																	27186253		2203	4300	6503	SO:0001819	synonymous_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27186253G>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1143G>T	17.37:g.27186253G>T						ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.G188G|ERAL1_uc002hdb.1_Silent_p.G264G	p.G381G	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		9	1153	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		381			KH type-2.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	c.1143G>T	CCDS11244.1																																																																																				PASS	0.493	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			6	66	6	66	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29221045	29221045	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:29221045C>T	ENST00000321990.4	+	21	5552	c.5174C>T	c.(5173-5175)tCa>tTa	p.S1725L		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1725					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S1725L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGCTATTTCAAAAGCATTG	0.358																																						uc002hfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5173-5175)TCA>TTA		ATPase family, AAA domain containing 5							61.0	63.0	63.0					17																	29221045		2203	4299	6502	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29221045C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5174C>T	17.37:g.29221045C>T	ENSP00000313171:p.Ser1725Leu						p.S1725L	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			21	5520	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1725					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.5174C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552301	0.86127	.	.	ENSG00000176208	ENST00000321990	T	0.12361	2.69	6.08	6.08	0.98989	.	0.116020	0.64402	D	0.000013	T	0.40015	0.1100	M	0.68952	2.095	0.48236	D	0.999612	D	0.76494	0.999	D	0.80764	0.994	T	0.02751	-1.1115	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1725	Q96QE3	ATAD5_HUMAN	L	1725	ENSP00000313171:S1725L	ENSP00000313171:S1725L	S	+	2	0	ATAD5	26245171	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.339000	0.59322	2.894000	0.99253	0.591000	0.81541	TCA		PASS	0.358	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		6	29	6	29	---	---	---	---
KRT222	125113	broad.mit.edu	37	17	38816289	38816289	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:38816289C>A	ENST00000476049.1	-	3	437	c.396G>T	c.(394-396)ctG>ctT	p.L132L	KRT222_ENST00000394052.3_Silent_p.L132L			Q8N1A0	KT222_HUMAN	keratin 222	132						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L132L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTTCTTGTTCCAGCCTCATCT	0.443																																						uc002hvc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(394-396)CTG>CTT		truncated type I keratin KA21							272.0	238.0	250.0					17																	38816289		2203	4300	6503	SO:0001819	synonymous_variant	125113					intermediate filament	structural molecule activity	g.chr17:38816289C>A	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.396G>T	17.37:g.38816289C>A						KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Silent_p.L92L|KRT222_uc010cxc.2_Silent_p.L92L	p.L132L	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN			3	461	-			132			Potential.		Q7Z368	Silent	SNP	ENST00000476049.1	37	c.396G>T	CCDS11371.1																																																																																				PASS	0.443	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		6	106	6	106	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41256906	41256906	+	Nonsense_Mutation	SNP	G	G	A	rs80359879		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:41256906G>A	ENST00000357654.3	-	5	398	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.Q94*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.Q47*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.Q94*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.Q94*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.Q94*|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.Q94*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.Q94*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.Q94*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	94					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|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)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q94*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTGTCAAGCTGAAAAGCACAA	0.373			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Nonsense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(280-282)CAG>TAG	Homologous_recombination	breast cancer 1, early onset isoform 1							109.0	99.0	103.0					17																	41256906		2203	4299	6502	SO:0001587	stop_gained	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41256906G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.280C>T	17.37:g.41256906G>A	ENSP00000350283:p.Gln94*	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Nonsense_Mutation_p.Q47*|BRCA1_uc010whl.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Nonsense_Mutation_p.Q24*|BRCA1_uc002icu.2_Nonsense_Mutation_p.Q94*|BRCA1_uc010cyx.2_Nonsense_Mutation_p.Q47*|BRCA1_uc002ict.2_Nonsense_Mutation_p.Q94*|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'UTR|BRCA1_uc002idc.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whr.1_Nonsense_Mutation_p.Q47*|BRCA1_uc002idd.2_Nonsense_Mutation_p.Q94*|BRCA1_uc002ide.1_5'UTR|BRCA1_uc010cyy.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whs.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010cyz.2_Nonsense_Mutation_p.Q47*|BRCA1_uc010cza.2_Nonsense_Mutation_p.Q68*|BRCA1_uc010wht.1_Intron	p.Q94*	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	512	-		Breast(137;0.000717)	94					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	c.280C>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	37	6.502520	0.97620	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037	.	.	.	5.3	4.32	0.51571	.	0.121261	0.37219	N	0.002199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5971	0.61996	0.0:0.8419:0.1581:0.0	.	.	.	.	X	94;94;94;94;94;94;94;47;94;47;94;94;10;47;10;94;68;94;94;68	.	ENSP00000246907:Q94X	Q	-	1	0	BRCA1	38510432	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.004000	0.49513	1.468000	0.48064	-0.256000	0.11100	CAG		PASS	0.373	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		42	16	42	16	---	---	---	---
TMEM101	84336	broad.mit.edu	37	17	42089419	42089419	+	Silent	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:42089419G>C	ENST00000589334.1	-	5	966	c.651C>G	c.(649-651)ctC>ctG	p.L217L	TMEM101_ENST00000542039.1_Silent_p.L159L|TMEM101_ENST00000206380.3_Silent_p.L217L			Q96IK0	TM101_HUMAN	transmembrane protein 101	217					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.L217L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCCATCAATGAGCAGCATGA	0.567																																						uc002ieu.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(649-651)CTC>CTG		transmembrane protein 101							120.0	93.0	102.0					17																	42089419		2203	4300	6503	SO:0001819	synonymous_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42089419G>C	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.651C>G	17.37:g.42089419G>C						TMEM101_uc010wis.1_Silent_p.L159L	p.L217L	NM_032376	NP_115752	Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	676	-		Breast(137;0.0264)|Prostate(33;0.0861)	217			Helical; (Potential).		B2R9N6	Silent	SNP	ENST00000589334.1	37	c.651C>G	CCDS11474.1																																																																																				PASS	0.567	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		12	54	12	54	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46135878	46135878	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:46135878C>T	ENST00000362042.3	+	6	1810	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Silent_p.P368P|NFE2L1_ENST00000361665.3_Silent_p.P387P|NFE2L1_ENST00000536222.1_Silent_p.P242P|NFE2L1_ENST00000357480.5_Silent_p.P368P|NFE2L1_ENST00000582155.1_Silent_p.P210P|NFE2L1_ENST00000583378.1_Silent_p.P199P	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	398					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.P398P(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGTTGGCCCCCAGCAATTCTA	0.622																																						uc002imz.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1192-1194)CCC>CCT		nuclear factor erythroid 2-like 1							81.0	83.0	83.0					17																	46135878		2203	4300	6503	SO:0001819	synonymous_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46135878C>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1194C>T	17.37:g.46135878C>T						NFE2L1_uc002ina.3_Silent_p.P368P|NFE2L1_uc002inb.3_Silent_p.P368P|NFE2L1_uc010wle.1_Silent_p.P210P|NFE2L1_uc010wlf.1_Silent_p.P242P	p.P398P	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			6	1845	+			398					D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	c.1194C>T	CCDS11524.1																																																																																				PASS	0.622	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		9	76	9	76	---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47122365	47122365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:47122365G>T	ENST00000290341.3	+	12	1667	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	IGF2BP1_ENST00000431824.2_Nonsense_Mutation_p.E306*	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	445	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.E445*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGCACCACCCGAAACACCTGA	0.483																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(1333-1335)GAA>TAA		insulin-like growth factor 2 mRNA binding							212.0	187.0	195.0					17																	47122365		2203	4300	6503	SO:0001587	stop_gained	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47122365G>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1333G>T	17.37:g.47122365G>T	ENSP00000290341:p.Glu445*					IGF2BP1_uc010dbj.2_Nonsense_Mutation_p.E306*	p.E445*	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			12	1667	+			445			KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Nonsense_Mutation	SNP	ENST00000290341.3	37	c.1333G>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	41	8.672127	0.98910	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	.	.	.	5.01	5.01	0.66863	.	0.053823	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-23.3909	18.1211	0.89572	0.0:0.0:1.0:0.0	.	.	.	.	X	445;306	.	ENSP00000290341:E445X	E	+	1	0	IGF2BP1	44477364	1.000000	0.71417	0.960000	0.40013	0.984000	0.73092	9.498000	0.97972	2.605000	0.88082	0.655000	0.94253	GAA		PASS	0.483	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		64	51	64	51	---	---	---	---
STXBP4	252983	broad.mit.edu	37	17	53108533	53108533	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:53108533T>C	ENST00000376352.2	+	9	878	c.671T>C	c.(670-672)cTa>cCa	p.L224P	STXBP4_ENST00000299341.4_Missense_Mutation_p.L149P|STXBP4_ENST00000434978.2_Missense_Mutation_p.L224P|STXBP4_ENST00000405898.1_Missense_Mutation_p.L224P|STXBP4_ENST00000398391.2_Missense_Mutation_p.L149P	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	224					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L224P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTCCAGGCTCTAAATTATCTT	0.363																																						uc002iuf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(670-672)CTA>CCA		syntaxin binding protein 4							88.0	86.0	87.0					17																	53108533		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53108533T>C	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.671T>C	17.37:g.53108533T>C	ENSP00000365530:p.Leu224Pro					STXBP4_uc010dcc.1_Missense_Mutation_p.L149P|STXBP4_uc010dcd.1_Missense_Mutation_p.L224P	p.L224P	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			9	878	+			224					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.671T>C	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	T	17.95	3.512816	0.64522	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.79	5.79	0.91817	EF-hand-like domain (1);	0.000000	0.64402	D	0.000005	T	0.79233	0.4411	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.82078	-0.0635	10	0.87932	D	0	-8.6627	12.5247	0.56079	0.0:0.0:0.0:1.0	.	224;149;224	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	P	224;149;224;224;149	ENSP00000365530:L224P;ENSP00000299341:L149P;ENSP00000385944:L224P;ENSP00000391087:L224P;ENSP00000381427:L149P	ENSP00000299341:L149P	L	+	2	0	STXBP4	50463532	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.140000	0.64807	2.208000	0.71279	0.533000	0.62120	CTA		PASS	0.363	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		3	22	3	22	---	---	---	---
SMG8	55181	broad.mit.edu	37	17	57288253	57288253	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:57288253C>A	ENST00000543872.2	+	2	1105	c.841C>A	c.(841-843)Cgg>Agg	p.R281R	SMG8_ENST00000578922.1_Silent_p.R281R|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.R281R|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	281					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.R281R(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAACCTCCTCGGAACCAAGA	0.512																																						uc002ixi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(841-843)CGG>AGG		SMG8 protein							67.0	75.0	72.0					17																	57288253		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288253C>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.841C>A	17.37:g.57288253C>A							p.R281R	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	883	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		281					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.841C>A	CCDS11615.1																																																																																				PASS	0.512	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		4	79	4	79	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58538059	58538059	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:58538059G>A	ENST00000083182.3	-	9	1313	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	342					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.V342V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TATACTGGTGGACATAAGAAG	0.398																																						uc002iys.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1024-1026)GTC>GTT		amyloid beta precursor protein-binding protein							94.0	83.0	87.0					17																	58538059		2203	4300	6503	SO:0001819	synonymous_variant	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58538059G>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1026C>T	17.37:g.58538059G>A						APPBP2_uc010ddl.1_Silent_p.V271V	p.V342V	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		9	1314	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		342			TPR 5.		A8K862|O95095|Q8WVC9	Silent	SNP	ENST00000083182.3	37	c.1026C>T	CCDS32699.1																																																																																				PASS	0.398	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		21	16	21	16	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	66972116	66972116	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:66972116A>T	ENST00000340001.4	-	39	5026	c.4815T>A	c.(4813-4815)gaT>gaA	p.D1605E	ABCA9_ENST00000453985.2_Missense_Mutation_p.D1567E|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1605					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1605E(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTCTTCAAGATCACCCAGCT	0.473																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4813-4815)GAT>GAA		ATP-binding cassette, sub-family A, member 9							55.0	53.0	54.0					17																	66972116		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66972116A>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4815T>A	17.37:g.66972116A>T	ENSP00000342216:p.Asp1605Glu					ABCA9_uc010dez.2_Missense_Mutation_p.D1567E	p.D1605E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			39	4958	-	Breast(10;1.47e-12)		1605					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4815T>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.807364	0.70797	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.85088	-1.94	4.85	-5.71	0.02413	.	0.596486	0.14432	N	0.319934	T	0.78742	0.4331	L	0.47190	1.495	0.19300	N	0.999975	B	0.15141	0.012	B	0.24848	0.056	T	0.64449	-0.6405	10	0.54805	T	0.06	.	14.1146	0.65144	0.3072:0.0:0.6928:0.0	.	1605	Q8IUA7	ABCA9_HUMAN	E	1605;1550	ENSP00000342216:D1605E	ENSP00000342216:D1605E	D	-	3	2	ABCA9	64483711	.	.	0.002000	0.10522	0.290000	0.27261	.	.	-0.906000	0.03866	0.496000	0.49642	GAT		PASS	0.473	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		15	9	15	9	---	---	---	---
TRIM47	91107	broad.mit.edu	37	17	73870746	73870746	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:73870746G>A	ENST00000254816.2	-	6	1761	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	TRIM47_ENST00000587339.1_Missense_Mutation_p.R341W|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	579	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R579W(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCGGGGCCGGGAGGCCTTC	0.667																																						uc002jpw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1735-1737)CGG>TGG		tripartite motif-containing 47							28.0	35.0	33.0					17																	73870746		2202	4299	6501	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870746G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1735C>T	17.37:g.73870746G>A	ENSP00000254816:p.Arg579Trp					TRIM47_uc002jpv.2_Missense_Mutation_p.R341W	p.R579W	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1762	-			579			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1735C>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067818	0.55539	.	.	ENSG00000132481	ENST00000254816	T	0.46451	0.87	5.18	1.72	0.24424	B30.2/SPRY domain (1);	0.138117	0.33005	N	0.005395	T	0.35158	0.0922	N	0.08118	0	0.26856	N	0.968068	D	0.76494	0.999	D	0.63381	0.914	T	0.12578	-1.0542	10	0.72032	D	0.01	.	7.0053	0.24833	0.0922:0.0:0.5374:0.3704	.	579	Q96LD4	TRI47_HUMAN	W	579	ENSP00000254816:R579W	ENSP00000254816:R579W	R	-	1	2	TRIM47	71382341	0.026000	0.19158	0.986000	0.45419	0.705000	0.40729	0.636000	0.24644	0.478000	0.27488	0.561000	0.74099	CGG		PASS	0.667	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			8	36	8	36	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790024	80790024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:80790024G>A	ENST00000269394.3	-	2	1140	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	103					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q103*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGCTGTGCTGAAGCTTCGAG	0.597																																						uc002kga.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(307-309)CAG>TAG		zinc finger protein 750							89.0	79.0	82.0					17																	80790024		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80790024G>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.307C>T	17.37:g.80790024G>A	ENSP00000269394:p.Gln103*					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.Q103*	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	618	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	103					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.307C>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	38	7.248240	0.98161	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.86	4.89	0.63831	.	0.427439	0.21746	N	0.069751	.	.	.	.	.	.	0.33497	D	0.58944	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.4847	14.3744	0.66862	0.072:0.0:0.928:0.0	.	.	.	.	X	103	.	.	Q	-	1	0	ZNF750	78383313	0.982000	0.34865	0.009000	0.14445	0.007000	0.05969	2.947000	0.49058	2.773000	0.95371	0.655000	0.94253	CAG		PASS	0.597	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		27	28	27	28	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21531685	21531685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr18:21531685C>A	ENST00000313654.9	+	73	9921	c.9680C>A	c.(9679-9681)tCa>tAa	p.S3227*	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.S1618*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.S1562*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.S3171*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3227	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S3227*(1)|p.S1618*(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGTGGGACCTCAACGTCGGTC	0.552																																						uc002kuq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(9679-9681)TCA>TAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						184.0	126.0	146.0					18																	21531685		2203	4300	6503	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21531685C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9680C>A	18.37:g.21531685C>A	ENSP00000324532:p.Ser3227*					LAMA3_uc002kur.2_Nonsense_Mutation_p.S3171*|LAMA3_uc002kus.3_Nonsense_Mutation_p.S1618*|LAMA3_uc002kut.3_Nonsense_Mutation_p.S1562*	p.S3227*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			73	9766	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		3227			Laminin G-like 5.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.9680C>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	48	14.064649	0.99777	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.15	-1.05	0.10036	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5834	0.27978	0.1189:0.2559:0.0:0.6251	.	.	.	.	X	3227;3171;1618	.	ENSP00000269217:S1618X	S	+	2	0	LAMA3	19785683	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.634000	0.05477	-0.155000	0.11098	0.655000	0.94253	TCA		PASS	0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	14	4	14	---	---	---	---
ZNF271	10778	broad.mit.edu	37	18	32886865	32886865	+	RNA	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr18:32886865G>C	ENST00000399070.3	+	0	1259					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						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.G93R(1)		large_intestine(3)|lung(9)	12						ACCTTCAGTAGGCTTTCAGAT	0.383																																						uc002kyq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)GGC>CGC		SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA;							63.0	63.0	63.0					18																	32886865		2203	4300	6503			10778							g.chr18:32886865G>C	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886865G>C						ZNF271_uc002kyp.3_Missense_Mutation_p.G93R|ZNF271_uc002kyr.3_Missense_Mutation_p.G93R	p.G93R	NR_024565						3	1269	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Missense_Mutation	SNP	ENST00000399070.3	37	c.277G>C																																																																																					PASS	0.383	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		21	11	21	11	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																						uc002leb.2																			5	Substitution - Missense(5)		endometrium(2)|kidney(2)|lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(5107-5109)GTC>GCC		myosin VB							70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363917A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala					MYO5B_uc002ldz.2_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A	p.V1703A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5396	-			1703			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5108T>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		PASS	0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			3	37	3	37	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47404253	47404253	+	Splice_Site	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr18:47404253C>A	ENST00000285039.7	-	25	3576		c.e25-1		MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Splice_Site	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB						endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGGAGTTTGCTGTTCAACAA	0.453																																						uc002leb.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.e25-1		myosin VB							229.0	220.0	223.0					18																	47404253		1956	4143	6099	SO:0001630	splice_region_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404253C>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3277-1G>T	18.37:g.47404253C>A						MYO5B_uc002lea.2_Splice_Site_p.Q234_splice	p.Q1093_splice	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3565	-								B0I1R3|Q0P656|Q9H6Y6	Splice_Site	SNP	ENST00000285039.7	37	c.3277_splice	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897634	0.52121	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1534	0.59503	0.0:0.9266:0.0:0.0734	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5B	45658251	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	2.661000	0.46758	2.806000	0.96561	0.655000	0.94253	.		PASS	0.453	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		Intron	58	30	58	30	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54349917	54349917	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr18:54349917A>G	ENST00000254442.3	+	5	564	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	WDR7_ENST00000357574.3_Missense_Mutation_p.Q118R|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	118					hematopoietic progenitor cell differentiation (GO:0002244)			p.Q118R(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TAGTTCTACCAGTTCTCTGTT	0.373																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(352-354)CAG>CGG		rabconnectin-3 beta isoform 1							149.0	137.0	141.0					18																	54349917		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54349917A>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.353A>G	18.37:g.54349917A>G	ENSP00000254442:p.Gln118Arg					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.Q118R	p.Q118R	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	5	564	+			118					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.353A>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.091119	0.55968	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.56103	0.48;0.48	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	L	0.41710	1.295	0.80722	D	1	D;P	0.53885	0.963;0.956	P;B	0.53313	0.723;0.444	T	0.45891	-0.9230	10	0.15499	T	0.54	.	14.7891	0.69827	1.0:0.0:0.0:0.0	.	118;118	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	118	ENSP00000254442:Q118R;ENSP00000350187:Q118R	ENSP00000254442:Q118R	Q	+	2	0	WDR7	52500915	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.162000	0.94745	2.048000	0.60808	0.460000	0.39030	CAG		PASS	0.373	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			26	21	26	21	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60612496	60612496	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr18:60612496G>C	ENST00000262719.5	+	12	3550	c.3316G>C	c.(3316-3318)Gag>Cag	p.E1106Q	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E594Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1106					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E1106Q(2)|p.E593Q(1)		endometrium(2)|kidney(2)|lung(13)	17						GCAGCTCCCAGAGATCAAGGT	0.458																																						uc002lis.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1780-1782)GAG>CAG		PH domain and leucine rich repeat protein							96.0	90.0	92.0					18																	60612496		1925	4133	6058	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60612496G>C	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3316G>C	18.37:g.60612496G>C	ENSP00000262719:p.Glu1106Gln						p.E594Q	NM_194449	NP_919431	O60346	PHLP1_HUMAN			13	1958	+			1106			LRR 20.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.1780G>C	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304526	0.60305	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.17691	2.26;2.26	4.92	4.92	0.64577	.	.	.	.	.	T	0.25865	0.0630	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.66716	0.946	T	0.03103	-1.1072	9	0.12766	T	0.61	-17.5709	18.6659	0.91489	0.0:0.0:1.0:0.0	.	1106	O60346	PHLP1_HUMAN	Q	594;1106	ENSP00000383170:E594Q;ENSP00000262719:E1106Q	ENSP00000262719:E1106Q	E	+	1	0	PHLPP1	58763476	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.290000	0.96065	2.714000	0.92807	0.655000	0.94253	GAG		PASS	0.458	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		6	39	6	39	---	---	---	---
TIMM21	29090	broad.mit.edu	37	18	71816207	71816207	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr18:71816207G>C	ENST00000169551.6	+	1	462	c.164G>C	c.(163-165)aGa>aCa	p.R55T	TIMM21_ENST00000580087.1_Missense_Mutation_p.R55T|FBXO15_ENST00000419743.2_5'Flank|FBXO15_ENST00000269500.5_5'Flank	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	55					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)		p.R55T(1)									CTGCGACCTAGATGTATTCTT	0.493																																						uc010dqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)AGA>ACA		hypothetical protein LOC29090 precursor							135.0	144.0	141.0					18																	71816207		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816207G>C	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.164G>C	18.37:g.71816207G>C	ENSP00000169551:p.Arg55Thr					FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	p.R55T	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN			1	462	+		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)	55					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.164G>C	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158729	0.21454	.	.	ENSG00000075336	ENST00000169551	T	0.44482	0.92	4.5	0.338	0.15974	.	1.669030	0.03220	N	0.177334	T	0.34919	0.0914	L	0.56769	1.78	0.09310	N	1	B	0.26400	0.148	B	0.21360	0.034	T	0.06789	-1.0807	10	0.12103	T	0.63	0.2543	4.1242	0.10119	0.3312:0.3316:0.3372:0.0	.	55	Q9BVV7	TI21L_HUMAN	T	55	ENSP00000169551:R55T	ENSP00000169551:R55T	R	+	2	0	C18orf55	69967187	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.156000	0.16382	-0.134000	0.11516	0.650000	0.86243	AGA		PASS	0.493	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		83	105	83	105	---	---	---	---
MKNK2	2872	broad.mit.edu	37	19	2043172	2043172	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:2043172G>A	ENST00000591601.1	-	6	479	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000541165.1_Silent_p.F17F|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000250896.3_Silent_p.F148F|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.F148F			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.F148F(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTCGAAGAACTCAATCA	0.637																																						uc002lus.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)|breast(1)	2						c.(442-444)TTC>TTT		MAP kinase-interacting serine/threonine kinase 2							121.0	122.0	122.0					19																	2043172		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043172G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.444C>T	19.37:g.2043172G>A						MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Intron|MKNK2_uc010xgv.1_Silent_p.F17F|MKNK2_uc002lur.2_Silent_p.F148F|MKNK2_uc002lut.1_5'Flank	p.F148F	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	689	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	148			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.444C>T	CCDS12080.1																																																																																				PASS	0.637	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		23	144	23	144	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9047990	9047990	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:9047990C>G	ENST00000397910.4	-	5	33844	c.33641G>C	c.(33640-33642)aGt>aCt	p.S11214T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11216	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.S6847T(1)|p.S11214T(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						TGACCCAGAACTAGTGACCAG	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33640-33642)AGT>ACT		mucin 16							61.0	53.0	55.0					19																	9047990		1909	4132	6041	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047990C>G	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.33641G>C	19.37:g.9047990C>G	ENSP00000381008:p.Ser11214Thr						p.S11214T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33845	-			11216			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33641G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.064	0.380168	0.11466	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	3.31	-0.186	0.13272	.	.	.	.	.	T	0.05227	0.0139	L	0.55481	1.735	.	.	.	D	0.54964	0.969	P	0.51945	0.685	T	0.32025	-0.9922	8	0.87932	D	0	.	2.648	0.04990	0.2257:0.5068:0.0:0.2675	.	11214	B5ME49	.	T	11214	ENSP00000381008:S11214T	ENSP00000381008:S11214T	S	-	2	0	MUC16	8908990	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.296000	0.02762	0.038000	0.15604	0.486000	0.48141	AGT		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	36	12	36	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9076334	9076334	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:9076334A>T	ENST00000397910.4	-	3	11315	c.11112T>A	c.(11110-11112)gaT>gaA	p.D3704E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3705	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.D3704E(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						AAACAGGCACATCTTCTGCTT	0.438																																						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.(11110-11112)GAT>GAA		mucin 16							109.0	107.0	108.0					19																	9076334		1974	4168	6142	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076334A>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.11112T>A	19.37:g.9076334A>T	ENSP00000381008:p.Asp3704Glu						p.D3704E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11316	-			3705			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11112T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.540	0.100199	0.08731	.	.	ENSG00000181143	ENST00000397910	T	0.02763	4.17	1.76	-3.51	0.04696	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.25987	0.065	T	0.41822	-0.9487	8	0.87932	D	0	.	0.7564	0.00999	0.237:0.1993:0.366:0.1977	.	3704	B5ME49	.	E	3704	ENSP00000381008:D3704E	ENSP00000381008:D3704E	D	-	3	2	MUC16	8937334	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.827000	0.04424	-1.545000	0.01719	0.260000	0.18958	GAT		PASS	0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		39	103	39	103	---	---	---	---
ZNF426	79088	broad.mit.edu	37	19	9639645	9639645	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:9639645C>A	ENST00000535489.1	-	6	1412	c.1076G>T	c.(1075-1077)aGt>aTt	p.S359I	ZNF426_ENST00000593003.1_Missense_Mutation_p.S321I|ZNF426_ENST00000253115.2_Missense_Mutation_p.S359I			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	359					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.S359I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTTGTCTCCACTGTGAGATCG	0.443																																						uc002mlq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)AGT>ATT		zinc finger protein 426							90.0	90.0	90.0					19																	9639645		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639645C>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1076G>T	19.37:g.9639645C>A	ENSP00000439017:p.Ser359Ile					ZNF426_uc010dws.2_Missense_Mutation_p.S321I	p.S359I	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			8	1340	-			359					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.1076G>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206320	0.22205	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.19105	2.17;2.17	1.65	-3.29	0.05017	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25494	0.0620	L	0.60012	1.86	0.54753	D	0.999985	P;P	0.44734	0.842;0.842	P;P	0.51101	0.659;0.659	T	0.27400	-1.0075	9	0.72032	D	0.01	.	5.7876	0.18343	0.0:0.3724:0.4696:0.1581	.	346;359	Q59EH4;Q9BUY5	.;ZN426_HUMAN	I	346;359;359	ENSP00000253115:S359I;ENSP00000439017:S359I	ENSP00000253115:S359I	S	-	2	0	ZNF426	9500645	0.000000	0.05858	0.001000	0.08648	0.152000	0.21847	-0.261000	0.08694	-0.801000	0.04427	0.462000	0.41574	AGT		PASS	0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		10	49	10	49	---	---	---	---
ICAM5	7087	broad.mit.edu	37	19	10401852	10401852	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:10401852G>C	ENST00000221980.4	+	2	250	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	63	Ig-like C2-type 1.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.E63Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCCTCGGCCGGAGCGCGGTGG	0.697																																						uc002mnu.3																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(187-189)GAG>CAG		intercellular adhesion molecule 5 precursor							23.0	25.0	25.0					19																	10401852		2201	4294	6495	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10401852G>C	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.187G>C	19.37:g.10401852G>C	ENSP00000221980:p.Glu63Gln					ICAM5_uc002mnv.3_5'Flank	p.E63Q	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		2	252	+			63			Extracellular (Potential).|Ig-like C2-type 1.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.187G>C	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203648	0.58234	.	.	ENSG00000105376	ENST00000221980	T	0.15487	2.42	4.96	4.96	0.65561	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	1.016330	0.07856	N	0.965525	T	0.14184	0.0343	L	0.33485	1.01	0.38522	D	0.948752	B	0.30870	0.298	B	0.23018	0.043	T	0.10706	-1.0618	10	0.15499	T	0.54	-17.5583	13.5764	0.61877	0.0:0.0:1.0:0.0	.	63	Q9UMF0	ICAM5_HUMAN	Q	63	ENSP00000221980:E63Q	ENSP00000221980:E63Q	E	+	1	0	ICAM5	10262852	0.995000	0.38212	0.997000	0.53966	0.996000	0.88848	4.810000	0.62598	2.577000	0.86979	0.549000	0.68633	GAG		PASS	0.697	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		4	13	4	13	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10475529	10475529	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:10475529G>T	ENST00000525621.1	-	8	1688	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	TYK2_ENST00000529370.1_Missense_Mutation_p.L403M|TYK2_ENST00000264818.6_Missense_Mutation_p.L403M|TYK2_ENST00000524462.1_Missense_Mutation_p.L218M	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	403	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L403M(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGCCTCACCAGGCACTTGTTG	0.647																																						uc002moc.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(1207-1209)CTG>ATG		tyrosine kinase 2							69.0	73.0	71.0					19																	10475529		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10475529G>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1207C>A	19.37:g.10475529G>T	ENSP00000431885:p.Leu403Met					TYK2_uc010dxe.2_Missense_Mutation_p.L218M|TYK2_uc002mod.2_Missense_Mutation_p.L403M	p.L403M	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		8	1585	-			403			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1207C>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780209	0.31502	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.24	2.76	0.32466	FERM domain (1);	0.000000	0.40908	D	0.000983	T	0.13030	0.0316	L	0.38649	1.16	0.38371	D	0.944863	P;B	0.50369	0.934;0.376	P;B	0.45099	0.469;0.223	T	0.20338	-1.0278	10	0.12766	T	0.61	-18.7219	8.0586	0.30619	0.2422:0.0:0.7578:0.0	.	403;403	E9PPF2;P29597	.;TYK2_HUMAN	M	218;403;403;150;403	ENSP00000433203:L218M;ENSP00000431885:L403M;ENSP00000264818:L403M;ENSP00000432728:L403M	ENSP00000264818:L403M	L	-	1	2	TYK2	10336529	0.992000	0.36948	0.998000	0.56505	0.893000	0.52053	0.216000	0.17585	0.393000	0.25203	0.471000	0.43371	CTG		PASS	0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			6	58	6	58	---	---	---	---
SLC44A2	57153	broad.mit.edu	37	19	10736965	10736965	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:10736965C>A	ENST00000335757.5	+	2	450	c.74C>A	c.(73-75)cCc>cAc	p.P25H	SLC44A2_ENST00000586078.1_Missense_Mutation_p.P25H|SLC44A2_ENST00000407327.4_Missense_Mutation_p.P23H			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	25					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.P25H(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TTCAAAGGACCCATTTACAAT	0.498																																						uc002mpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(73-75)CCC>CAC		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						104.0	108.0	107.0					19																	10736965		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10736965C>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.74C>A	19.37:g.10736965C>A	ENSP00000336888:p.Pro25His					SLC44A2_uc002mpe.3_Missense_Mutation_p.P23H	p.P25H	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		2	213	+			25			Cytoplasmic (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.74C>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097738	0.76870	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.56103	0.48;0.48	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.91561	3.22	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83997	0.0341	10	0.87932	D	0	.	15.3801	0.74648	0.0:1.0:0.0:0.0	.	25;23	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	H	23;25;25	ENSP00000385135:P23H;ENSP00000336888:P25H	ENSP00000336888:P25H	P	+	2	0	SLC44A2	10597965	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.801000	0.75170	2.168000	0.68352	0.462000	0.41574	CCC		PASS	0.498	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			23	66	23	66	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11533515	11533515	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:11533515C>A	ENST00000356392.4	-	9	1218	c.1131G>T	c.(1129-1131)cgG>cgT	p.R377R	CCDC151_ENST00000545100.1_Silent_p.R323R|CCDC151_ENST00000591179.1_Silent_p.R317R|CCDC151_ENST00000586836.1_Silent_p.R186R	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	377								p.R377R(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GGGCCAGGAACCGCCGCACCA	0.667																																						uc002mrs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1129-1131)CGG>CGT		coiled-coil domain containing 151							23.0	28.0	26.0					19																	11533515		2020	4169	6189	SO:0001819	synonymous_variant	115948							g.chr19:11533515C>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1131G>T	19.37:g.11533515C>A						CCDC151_uc002mrr.2_Silent_p.R312R|CCDC151_uc010dxz.2_Silent_p.R317R	p.R377R	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			9	1274	-			377					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.1131G>T	CCDS42501.1																																																																																				PASS	0.667	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		5	13	5	13	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14748926	14748926	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:14748926G>T	ENST00000253673.5	-	11	1575	c.1475C>A	c.(1474-1476)aCt>aAt	p.T492N	EMR3_ENST00000344373.4_Missense_Mutation_p.T440N|EMR3_ENST00000443157.2_Missense_Mutation_p.T366N|EMR3_ENST00000599900.1_Missense_Mutation_p.T277N	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	492					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T492N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCGATCAGCAGTTCCATAAAG	0.493																																						uc002mzi.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1474-1476)ACT>AAT		egf-like module-containing mucin-like receptor							116.0	99.0	104.0					19																	14748926		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14748926G>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1475C>A	19.37:g.14748926G>T	ENSP00000253673:p.Thr492Asn					EMR3_uc010dzp.2_Missense_Mutation_p.T440N|EMR3_uc010xnv.1_Missense_Mutation_p.T366N	p.T492N	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			11	1623	-			492			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1475C>A	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639786	0.47153	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.33654	1.4;1.4;1.4	4.35	4.35	0.52113	GPCR, family 2-like (1);	.	.	.	.	T	0.54581	0.1867	L	0.56199	1.76	0.34797	D	0.736308	D;D;D	0.76494	0.998;0.999;0.979	D;D;D	0.76575	0.974;0.988;0.929	T	0.67381	-0.5685	9	0.87932	D	0	.	14.422	0.67190	0.0:0.0:1.0:0.0	.	366;440;492	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	N	366;492;440	ENSP00000396208:T366N;ENSP00000253673:T492N;ENSP00000340758:T440N	ENSP00000253673:T492N	T	-	2	0	EMR3	14609926	1.000000	0.71417	0.882000	0.34594	0.079000	0.17450	4.523000	0.60545	2.249000	0.74217	0.655000	0.94253	ACT		PASS	0.493	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		15	60	15	60	---	---	---	---
YJEFN3	374887	broad.mit.edu	37	19	19646197	19646197	+	Missense_Mutation	SNP	C	C	T	rs368324977		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:19646197C>T	ENST00000514277.4	+	5	519	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	CILP2_ENST00000586018.1_5'Flank|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.R160W|CILP2_ENST00000291495.5_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.R160W|YJEFN3_ENST00000436027.5_Missense_Mutation_p.R111W	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	161	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.							p.R161W(1)		NS(1)|breast(1)|lung(3)	5						CCTGCTGCATCGGGACCTGAC	0.627																																						uc010xqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)CGG>TGG		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)	C	TRP/ARG,TRP/ARG	0,4354		0,0,2177	86.0	90.0	89.0		331,481	2.7	1.0	19		89	1,8559		0,1,4279	no	missense,missense	YJEFN3	NM_001190328.1,NM_198537.3	101,101	0,1,6456	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	111/250,161/300	19646197	1,12913	2177	4280	6457	SO:0001583	missense	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19646197C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.481C>T	19.37:g.19646197C>T	ENSP00000426964:p.Arg161Trp					YJEFN3_uc002nmt.1_Missense_Mutation_p.R161W|YJEFN3_uc010ecf.1_Missense_Mutation_p.R111W|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank	p.R243W	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			6	986	+			Error:Variant_position_missing_in_Q9P0J0_after_alignment					A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.727C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796999	0.70567	0.0	1.17E-4	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.47528	0.84;0.84;0.84	3.87	2.72	0.32119	YjeF-related protein, N-terminal (5);	0.239156	0.38381	N	0.001706	T	0.54951	0.1890	L	0.43923	1.385	0.42064	D	0.991177	D;D;D	0.89917	1.0;0.994;0.995	D;P;P	0.73708	0.981;0.502;0.745	T	0.57493	-0.7802	10	0.87932	D	0	-5.061	8.4068	0.32619	0.3495:0.6505:0.0:0.0	.	160;111;161	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	W	160;161;111;161;111;160	ENSP00000398520:R111W;ENSP00000426964:R161W;ENSP00000452549:R160W	ENSP00000389732:R160W	R	+	1	2	YJEFN3;CTC-260F20.3	19507197	0.670000	0.27512	1.000000	0.80357	0.937000	0.57800	1.826000	0.39092	2.193000	0.70182	0.555000	0.69702	CGG		PASS	0.627	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		6	22	6	22	---	---	---	---
UQCRFS1	7386	broad.mit.edu	37	19	29698533	29698533	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:29698533G>C	ENST00000304863.4	-	2	1169	c.747C>G	c.(745-747)atC>atG	p.I249M		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	249	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.I249M(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GACCCAATCTGATCCTGCCAG	0.473																																						uc002nsd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)ATC>ATG		ubiquinol-cytochrome c reductase, Rieske							76.0	68.0	71.0					19																	29698533		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698533G>C	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.747C>G	19.37:g.29698533G>C	ENSP00000306397:p.Ile249Met						p.I249M	NM_006003	NP_005994	P47985	UCRI_HUMAN	Lung(7;0.092)		2	858	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		249			Rieske.		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.747C>G	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339524	0.24339	.	.	ENSG00000169021	ENST00000304863	T	0.51817	0.69	4.85	4.85	0.62838	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske iron-sulphur protein, C-terminal (1);Rieske [2Fe-2S] iron-sulphur domain (4);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	H	0.97390	3.995	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.83988	0.0336	10	0.87932	D	0	.	10.5846	0.45275	0.0887:0.0:0.9113:0.0	.	249	P47985	UCRI_HUMAN	M	249	ENSP00000306397:I249M	ENSP00000306397:I249M	I	-	3	3	UQCRFS1	34390373	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	1.830000	0.39131	2.226000	0.72624	0.561000	0.74099	ATC		PASS	0.473	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		7	22	7	22	---	---	---	---
SLC7A9	11136	broad.mit.edu	37	19	33350756	33350756	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:33350756C>G	ENST00000023064.4	-	8	1055	c.864G>C	c.(862-864)gcG>gcC	p.A288A	SLC7A9_ENST00000590341.1_Silent_p.A288A|SLC7A9_ENST00000587772.1_Silent_p.A288A|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	288					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.A288A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCACAGCCACCGCCTGGGACT	0.632																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(862-864)GCG>GCC		solute carrier family 7, member 9	L-Cystine(DB00138)						62.0	56.0	58.0					19																	33350756		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33350756C>G	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.864G>C	19.37:g.33350756C>G						SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.A288A|SLC7A9_uc002ntw.3_Silent_p.A79A	p.A288A	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			8	981	-	Esophageal squamous(110;0.137)		288			Extracellular (Potential).		B2R9A6	Silent	SNP	ENST00000023064.4	37	c.864G>C	CCDS12425.1																																																																																				PASS	0.632	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			6	16	6	16	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36351210	36351210	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:36351210G>C	ENST00000360202.5	+	6	883	c.685G>C	c.(685-687)Gtg>Ctg	p.V229L	KIRREL2_ENST00000592409.1_Missense_Mutation_p.V229L|KIRREL2_ENST00000347900.6_Missense_Mutation_p.V179L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.V229L|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	229	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.V229L(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCCCAGAGGTGACTCTGTC	0.607																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(685-687)GTG>CTG		kin of IRRE-like 2 isoform c							74.0	59.0	64.0					19																	36351210		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351210G>C	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.685G>C	19.37:g.36351210G>C	ENSP00000353331:p.Val229Leu					KIRREL2_uc002obz.3_Missense_Mutation_p.V229L|KIRREL2_uc002oca.3_Missense_Mutation_p.V179L|KIRREL2_uc002occ.3_Missense_Mutation_p.V176L|KIRREL2_uc002ocd.3_Missense_Mutation_p.V226L	p.V229L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	897	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		229			Ig-like C2-type 3.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.685G>C	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410482	0.83340	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.11385	2.78;2.78;2.78	3.86	3.86	0.44501	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37906	N	0.001886	T	0.27629	0.0679	M	0.64997	1.995	0.44079	D	0.996837	D;D;D;D;D	0.69078	0.997;0.996;0.997;0.996;0.996	D;D;D;D;D	0.80764	0.994;0.99;0.992;0.987;0.987	T	0.01252	-1.1405	10	0.87932	D	0	-14.5939	11.5369	0.50643	0.0:0.0:1.0:0.0	.	229;209;229;179;229	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	L	229;179;229;209	ENSP00000262625:V229L;ENSP00000345067:V179L;ENSP00000353331:V229L	ENSP00000262625:V229L	V	+	1	0	KIRREL2	41043050	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.336000	0.90033	2.182000	0.69389	0.449000	0.29647	GTG		PASS	0.607	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		14	52	14	52	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948752	38948752	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:38948752T>C	ENST00000359596.3	+	18	1987	c.1987T>C	c.(1987-1989)Ttt>Ctt	p.F663L	RYR1_ENST00000360985.3_Missense_Mutation_p.F663L|RYR1_ENST00000355481.4_Missense_Mutation_p.F663L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	663	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.F663L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAAATGGTACTTTGAGGTGAT	0.617																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1987-1989)TTT>CTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						89.0	76.0	80.0					19																	38948752		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948752T>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1987T>C	19.37:g.38948752T>C	ENSP00000352608:p.Phe663Leu					RYR1_uc002oiu.2_Missense_Mutation_p.F663L	p.F663L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2117	+	all_cancers(60;7.91e-06)		663			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1987T>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269990	0.59540	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75938	-0.98;-0.98;-0.98	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.272201	0.29799	U	0.011161	D	0.87688	0.6240	M	0.90759	3.145	0.45899	D	0.998742	P;D	0.59357	0.885;0.985	P;D	0.67103	0.57;0.949	D	0.90301	0.4330	10	0.87932	D	0	.	14.3026	0.66362	0.0:0.0:0.0:1.0	.	663;663	P21817-2;P21817	.;RYR1_HUMAN	L	663	ENSP00000352608:F663L;ENSP00000347667:F663L;ENSP00000354254:F663L	ENSP00000347667:F663L	F	+	1	0	RYR1	43640592	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.868000	0.87116	2.054000	0.61138	0.449000	0.29647	TTT		PASS	0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	40	10	40	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38994876	38994876	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:38994876A>G	ENST00000359596.3	+	50	7943	c.7943A>G	c.(7942-7944)tAt>tGt	p.Y2648C	RYR1_ENST00000360985.3_Missense_Mutation_p.Y2648C|RYR1_ENST00000355481.4_Missense_Mutation_p.Y2648C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2648	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.Y2648C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCAACCACTATGAGCGCTGT	0.607																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7942-7944)TAT>TGT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						67.0	55.0	59.0					19																	38994876		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38994876A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7943A>G	19.37:g.38994876A>G	ENSP00000352608:p.Tyr2648Cys					RYR1_uc002oiu.2_Missense_Mutation_p.Y2648C|RYR1_uc002oiv.1_5'UTR	p.Y2648C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		50	8073	+	all_cancers(60;7.91e-06)		2648			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7943A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.011677	0.35511	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97959	-4.63;-4.63;-4.63	4.04	4.04	0.47022	.	0.000000	0.64402	U	0.000013	D	0.98413	0.9472	M	0.83483	2.645	0.44129	D	0.996911	D;D	0.76494	0.999;0.998	D;P	0.66979	0.948;0.888	D	0.99081	1.0837	10	0.87932	D	0	.	12.3841	0.55323	1.0:0.0:0.0:0.0	.	2648;2648	P21817-2;P21817	.;RYR1_HUMAN	C	2648	ENSP00000352608:Y2648C;ENSP00000347667:Y2648C;ENSP00000354254:Y2648C	ENSP00000347667:Y2648C	Y	+	2	0	RYR1	43686716	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	5.843000	0.69424	1.821000	0.53095	0.254000	0.18369	TAT		PASS	0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	22	5	22	---	---	---	---
IFNL3	282617	broad.mit.edu	37	19	39734686	39734686	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:39734686G>T	ENST00000413851.2	-	3	408	c.370C>A	c.(370-372)Cac>Aac	p.H124N		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	124					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.H124N(1)									TGCAGGGTGTGAAGGGGCTGG	0.667																																						uc010xut.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CAC>AAC		interleukin 28B							63.0	68.0	66.0					19																	39734686		2203	4300	6503	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734686G>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.370C>A	19.37:g.39734686G>T	ENSP00000409000:p.His124Asn					IL28B_uc010xuu.1_Missense_Mutation_p.H124N	p.H124N	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		3	374	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		124					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.370C>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	G	4.805	0.149705	0.09185	.	.	ENSG00000197110	ENST00000413851	T	0.32753	1.44	3.21	-0.775	0.10988	.	0.938292	0.09023	N	0.859826	T	0.25158	0.0611	M	0.77103	2.36	0.09310	N	1	P	0.41393	0.748	B	0.33620	0.167	T	0.20806	-1.0264	10	0.30854	T	0.27	-1.0172	2.018	0.03502	0.1224:0.1948:0.4833:0.1995	.	124	Q8IZI9	IL28B_HUMAN	N	124	ENSP00000409000:H124N	ENSP00000409000:H124N	H	-	1	0	IL28B	44426526	0.000000	0.05858	0.002000	0.10522	0.156000	0.22039	0.205000	0.17356	-0.126000	0.11682	0.205000	0.17691	CAC		PASS	0.667	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		16	39	16	39	---	---	---	---
MED29	55588	broad.mit.edu	37	19	39880797	39880797	+	5'Flank	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:39880797C>A	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Nonsense_Mutation_p.G18*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.G18*|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Nonsense_Mutation_p.G28*			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)		p.G28*(1)		lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGACCACTCCAGACCTAGGA	0.597																																						uc002old.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(82-84)GGA>TGA		Paf1, RNA polymerase II associated factor,							133.0	126.0	128.0					19																	39880797		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880797C>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880797C>A	Exception_encountered					PAF1_uc002ole.1_Nonsense_Mutation_p.G18*|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.G28*	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		3	257	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		28					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	ENST00000599213.2	37	c.82G>T		.	.	.	.	.	.	.	.	.	.	c	38	7.231538	0.98150	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.2159	14.6207	0.68582	0.0:1.0:0.0:0.0	.	.	.	.	X	28;18	.	ENSP00000221265:G28X	G	-	1	0	PAF1	44572637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.839000	0.75364	2.828000	0.97474	0.651000	0.88453	GGA		PASS	0.597	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		5	61	5	61	---	---	---	---
SELV	348303	broad.mit.edu	37	19	40006605	40006605	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:40006605C>G	ENST00000335426.4	+	1	853	c.753C>G	c.(751-753)ccC>ccG	p.P251P	SELV_ENST00000423711.1_Silent_p.P251P	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		251					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)	p.P251P(1)		breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAACCTTCCCCTCCTCCAGCG	0.627																																						uc010xvc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)CCC>CCG		selenoprotein V							17.0	18.0	18.0					19																	40006605		1922	4137	6059	SO:0001819	synonymous_variant	348303				cell redox homeostasis		selenium binding	g.chr19:40006605C>G																												ENST00000335426.4:c.753C>G	19.37:g.40006605C>G							p.P251P	NM_182704	NP_874363	P59797	SELV_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	853	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		251					Q17RG5	Silent	SNP	ENST00000335426.4	37	c.753C>G	CCDS54266.1																																																																																				PASS	0.627	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389802.1			5	26	5	26	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41931914	41931914	+	IGR	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:41931914A>C	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Missense_Mutation_p.L257R|B3GNT8_ENST00000601379.1_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.L257R(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CAGGTGAGCCAGCAGGGCAGG	0.652																																						uc002oqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)CTG>CGG		UDP-GlcNAc:betaGal							37.0	41.0	40.0					19																	41931914		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931914A>C	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931914A>C						CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	p.L257R	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			3	1224	-			257			Lumenal (Potential).		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.770T>G	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200704	0.38905	.	.	ENSG00000177191	ENST00000321702	T	0.48836	0.8	4.09	4.09	0.47781	.	0.397470	0.23439	N	0.048169	T	0.65709	0.2717	M	0.76170	2.325	0.26960	N	0.965837	D	0.89917	1.0	D	0.79108	0.992	T	0.59156	-0.7507	10	0.87932	D	0	.	10.9692	0.47431	1.0:0.0:0.0:0.0	.	257	Q7Z7M8	B3GN8_HUMAN	R	257	ENSP00000312700:L257R	ENSP00000312700:L257R	L	-	2	0	B3GNT8	46623754	0.964000	0.33143	0.072000	0.20136	0.086000	0.17979	8.234000	0.89801	1.849000	0.53698	0.533000	0.62120	CTG		PASS	0.652	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		8	22	8	22	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44223961	44223961	+	Silent	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:44223961G>C	ENST00000244314.5	+	2	1450	c.1251G>C	c.(1249-1251)gtG>gtC	p.V417V		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	417						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.V417V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCTTGGAAGTGGCCAGTGACA	0.637																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1249-1251)GTG>GTC		immunity-related GTPase family, cinema							35.0	36.0	36.0					19																	44223961		2203	4300	6503	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223961G>C	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1251G>C	19.37:g.44223961G>C							p.V417V	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	1398	+		Prostate(69;0.0435)	417					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.1251G>C	CCDS12629.1																																																																																				PASS	0.637	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		20	12	20	12	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46308061	46308061	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:46308061C>T	ENST00000221538.3	-	3	1244	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E104K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E368K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	368	Glu-rich.					intracellular (GO:0005622)		p.E368K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctctgcctcctcctcgccc	0.652																																						uc002pdm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1102-1104)GAG>AAG		radial spokehead-like 1							82.0	67.0	72.0					19																	46308061		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46308061C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1102G>A	19.37:g.46308061C>T	ENSP00000221538:p.Glu368Lys					RSPH6A_uc002pdl.2_Missense_Mutation_p.E104K	p.E368K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			3	1245	-			368			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1102G>A	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147269	0.77888	.	.	ENSG00000104941	ENST00000221538	T	0.17854	2.25	3.91	3.91	0.45181	.	0.249000	0.39020	N	0.001497	T	0.34832	0.0911	M	0.67953	2.075	0.49582	D	0.9998	D	0.65815	0.995	D	0.67231	0.95	T	0.04400	-1.0954	10	0.18276	T	0.48	-15.4861	14.2466	0.65993	0.0:1.0:0.0:0.0	.	368	Q9H0K4	RSH6A_HUMAN	K	368	ENSP00000221538:E368K	ENSP00000221538:E368K	E	-	1	0	RSPH6A	50999901	1.000000	0.71417	0.994000	0.49952	0.669000	0.39330	5.334000	0.65923	2.461000	0.83175	0.456000	0.33151	GAG		PASS	0.652	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			21	19	21	19	---	---	---	---
CLEC11A	6320	broad.mit.edu	37	19	51226889	51226889	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:51226889C>T	ENST00000250340.4	+	1	304	c.107C>T	c.(106-108)gCc>gTc	p.A36V	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A36V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	36					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.A36V(1)		kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		tggggaggtgcccaggaggag	0.652																																						uc002psy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(106-108)GCC>GTC		stem cell growth factor precursor							52.0	51.0	52.0					19																	51226889		2203	4300	6503	SO:0001583	missense	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51226889C>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.107C>T	19.37:g.51226889C>T	ENSP00000250340:p.Ala36Val						p.A36V	NM_002975	NP_002966	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	285	+		all_neural(266;0.057)	36					B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	c.107C>T	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222708	0.58668	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.53640	0.61	3.09	3.09	0.35607	.	0.000000	0.33477	N	0.004875	T	0.32010	0.0815	L	0.27053	0.805	0.29575	N	0.84962	B	0.31318	0.319	B	0.28784	0.094	T	0.40194	-0.9576	10	0.87932	D	0	-7.4692	9.8213	0.40885	0.0:1.0:0.0:0.0	.	36	Q9Y240	CLC11_HUMAN	V	36	ENSP00000250340:A36V	ENSP00000250340:A36V	A	+	2	0	CLEC11A	55918701	0.981000	0.34729	0.977000	0.42913	0.976000	0.68499	2.098000	0.41757	1.750000	0.51863	0.462000	0.41574	GCC		PASS	0.652	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		8	27	8	27	---	---	---	---
NKG7	4818	broad.mit.edu	37	19	51875756	51875756	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:51875756C>A	ENST00000221978.5	-	1	213	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	NKG7_ENST00000595217.1_Missense_Mutation_p.G12C|NKG7_ENST00000600427.1_Missense_Mutation_p.G12C	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	12						integral component of plasma membrane (GO:0005887)		p.G12C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCAGGGAGCCCCCCAGCAGG	0.607																																						uc002pwj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(34-36)GGC>TGC		natural killer cell group 7 sequence							44.0	48.0	47.0					19																	51875756		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875756C>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.34G>T	19.37:g.51875756C>A	ENSP00000221978:p.Gly12Cys					NKG7_uc002pwk.2_Missense_Mutation_p.G12C	p.G12C	NM_005601	NP_005592	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	205	-		all_neural(266;0.0199)	12			Helical; (Potential).			Missense_Mutation	SNP	ENST00000221978.5	37	c.34G>T	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733275	0.48939	.	.	ENSG00000105374	ENST00000221978	T	0.08370	3.1	4.98	1.53	0.23141	.	0.460210	0.18673	N	0.134395	T	0.19485	0.0468	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.03306	-1.1050	10	0.72032	D	0.01	-7.5476	6.6412	0.22911	0.0:0.6839:0.0:0.3161	.	12	Q16617	NKG7_HUMAN	C	12	ENSP00000221978:G12C	ENSP00000221978:G12C	G	-	1	0	NKG7	56567568	0.000000	0.05858	0.038000	0.18304	0.008000	0.06430	0.240000	0.18042	0.238000	0.21222	0.561000	0.74099	GGC		PASS	0.607	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		27	16	27	16	---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52497492	52497492	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:52497492C>T	ENST00000602063.1	-	6	1186	c.837G>A	c.(835-837)caG>caA	p.Q279Q	ZNF615_ENST00000391795.3_Silent_p.Q284Q|ZNF615_ENST00000376716.5_Silent_p.Q279Q|ZNF615_ENST00000594083.1_Silent_p.Q290Q|ZNF615_ENST00000598071.1_Silent_p.Q290Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	279					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.Q290Q(1)|p.Q279Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TATGAGTTTTCTGATGTATAT	0.403																																						uc002pye.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(835-837)CAG>CAA		zinc finger protein 615							169.0	155.0	160.0					19																	52497492		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497492C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.837G>A	19.37:g.52497492C>T						ZNF615_uc002pyf.1_Silent_p.Q290Q|ZNF615_uc002pyg.1_Silent_p.Q171Q|ZNF615_uc002pyh.1_Silent_p.Q290Q|ZNF615_uc010epi.1_Silent_p.Q286Q|ZNF615_uc010ydg.1_Silent_p.Q284Q	p.Q279Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1129	-		all_neural(266;0.117)	279			C2H2-type 3.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.837G>A	CCDS12846.1																																																																																				PASS	0.403	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		16	78	16	78	---	---	---	---
ZNF331	55422	broad.mit.edu	37	19	54080277	54080277	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:54080277G>T	ENST00000253144.9	+	7	1796	c.463G>T	c.(463-465)Ggt>Tgt	p.G155C	ZNF331_ENST00000511593.2_Missense_Mutation_p.G155C|ZNF331_ENST00000513999.1_Missense_Mutation_p.G155C|ZNF331_ENST00000511154.1_Missense_Mutation_p.G155C|ZNF331_ENST00000512387.1_Missense_Mutation_p.G155C|ZNF331_ENST00000449416.1_Missense_Mutation_p.G155C|ZNF331_ENST00000411977.2_Missense_Mutation_p.G155C|ZNF331_ENST00000513265.1_Intron	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	155					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.G155C(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AATCCATACTGGTGAGAAACC	0.413			T	?	follicular thyroid adenoma																																	uc002qbx.1				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(463-465)GGT>TGT		zinc finger protein 331							97.0	103.0	101.0					19																	54080277		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080277G>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.463G>T	19.37:g.54080277G>T	ENSP00000253144:p.Gly155Cys					ZNF331_uc002qby.1_Missense_Mutation_p.G155C|ZNF331_uc002qbz.1_Missense_Mutation_p.G155C|ZNF331_uc002qca.1_Missense_Mutation_p.G155C|ZNF331_uc010eqr.1_Missense_Mutation_p.G155C|ZNF331_uc002qcb.1_Missense_Mutation_p.G155C|ZNF331_uc002qcc.1_Missense_Mutation_p.G155C|ZNF331_uc002qcd.1_Missense_Mutation_p.G155C	p.G155C	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	1897	+			155					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.463G>T	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471630	0.43942	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387;ENST00000514022;ENST00000505949	T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	3.68	2.63	0.31362	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35739	N	0.003019	T	0.53206	0.1782	M	0.91090	3.175	0.09310	N	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.42582	-0.9443	10	0.87932	D	0	.	8.8051	0.34932	0.1196:0.0:0.8804:0.0	.	155	Q9NQX6	ZN331_HUMAN	C	155	ENSP00000253144:G155C;ENSP00000427439:G155C;ENSP00000393817:G155C;ENSP00000393336:G155C;ENSP00000421014:G155C;ENSP00000423156:G155C;ENSP00000421728:G155C;ENSP00000422471:G155C;ENSP00000427532:G155C	ENSP00000253144:G155C	G	+	1	0	ZNF331	58772089	0.920000	0.31207	0.210000	0.23637	0.629000	0.37895	3.985000	0.56930	2.049000	0.60858	0.563000	0.77884	GGT		PASS	0.413	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		8	151	8	151	---	---	---	---
CACNG6	59285	broad.mit.edu	37	19	54515268	54515268	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:54515268T>C	ENST00000252729.2	+	4	1198	c.608T>C	c.(607-609)gTc>gCc	p.V203A	CACNG6_ENST00000346968.2_Missense_Mutation_p.V157A|CACNG6_ENST00000352529.1_Missense_Mutation_p.V132A	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	203					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V203A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGCAGAGAGTCAGCCCGGAG	0.711																																						uc002qct.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(607-609)GTC>GCC		voltage-dependent calcium channel gamma-6							32.0	35.0	34.0					19																	54515268		2203	4300	6503	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54515268T>C	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.608T>C	19.37:g.54515268T>C	ENSP00000252729:p.Val203Ala					CACNG6_uc002qcu.2_Missense_Mutation_p.V157A|CACNG6_uc002qcv.2_Missense_Mutation_p.V132A	p.V203A	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	4	1198	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		203						Missense_Mutation	SNP	ENST00000252729.2	37	c.608T>C	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	T	4.591	0.109771	0.08780	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.68331	-0.32;1.55;1.58	3.76	-1.04	0.10068	.	0.336522	0.26307	N	0.025133	T	0.42040	0.1185	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24576	0.106;0.001;0.002	B;B;B	0.34722	0.188;0.004;0.007	T	0.36672	-0.9738	10	0.02654	T	1	-2.8667	3.2215	0.06717	0.1973:0.3785:0.0:0.4242	.	132;157;203	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	A	203;132;157	ENSP00000252729:V203A;ENSP00000319135:V132A;ENSP00000319097:V157A	ENSP00000252729:V203A	V	+	2	0	CACNG6	59207080	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-0.605000	0.05661	-0.263000	0.09378	0.456000	0.33151	GTC		PASS	0.711	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			5	24	5	24	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54848764	54848764	+	Missense_Mutation	SNP	G	G	A	rs547083968	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:54848764G>A	ENST00000291759.4	-	5	915	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	287	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R287C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGTAGGAGCGGCTCACAGGG	0.682																																						uc002qfj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(859-861)CGC>TGC		leukocyte immunoglobulin-like receptor subfamily							28.0	28.0	28.0					19																	54848764		2202	4300	6502	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848764G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.859C>T	19.37:g.54848764G>A	ENSP00000291759:p.Arg287Cys					LILRA4_uc002qfi.2_Missense_Mutation_p.R221C	p.R287C	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	916	-	Ovarian(34;0.19)		287			Extracellular (Potential).|Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.859C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	9.011	0.982504	0.18889	.	.	ENSG00000239961	ENST00000291759	T	0.12147	2.71	2.69	-5.39	0.02664	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.831020	0.00864	N	0.001941	T	0.28699	0.0711	M	0.79475	2.455	0.09310	N	1	D	0.53462	0.96	P	0.55303	0.773	T	0.49312	-0.8953	10	0.38643	T	0.18	.	7.7595	0.28944	0.0:0.2845:0.5387:0.1768	.	287	P59901	LIRA4_HUMAN	C	287	ENSP00000291759:R287C	ENSP00000291759:R287C	R	-	1	0	LILRA4	59540576	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.868000	0.00176	-2.648000	0.00425	-1.608000	0.00805	CGC		PASS	0.682	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		13	15	13	15	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179359	55179359	+	Silent	SNP	C	C	T	rs191773308		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:55179359C>T	ENST00000391736.1	+	14	1551	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	LILRB4_ENST00000430952.2_Silent_p.Y411Y|LILRB4_ENST00000391733.3_Silent_p.Y413Y|LILRB4_ENST00000270452.2_Silent_p.Y412Y|LILRB4_ENST00000391734.3_Silent_p.Y359Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	412					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Y412Y(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATGTGACCTACGCCCAGCTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15371	0.0		0.0	False		,,,				2504	0.0					uc002qgp.2																			2	Substitution - coding silent(2)	p.Y412Y(1)	ovary(1)|lung(1)	ovary(3)	3						c.(1234-1236)TAC>TAT		leukocyte immunoglobulin-like receptor,							77.0	82.0	80.0					19																	55179359		2203	4300	6503	SO:0001819	synonymous_variant	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179359C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1236C>T	19.37:g.55179359C>T						LILRB4_uc002qgq.2_Silent_p.Y411Y|LILRB4_uc002qgr.2_Silent_p.Y454Y|LILRB4_uc010ert.2_Silent_p.Y453Y|LILRB4_uc010eru.2_Silent_p.Y442Y	p.Y412Y	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1598	+			412			Cytoplasmic (Potential).|ITIM motif 2.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	c.1236C>T	CCDS12902.1																																																																																				PASS	0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			10	56	10	56	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55708523	55708523	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:55708523T>A	ENST00000376350.3	-	9	1974	c.1952A>T	c.(1951-1953)gAc>gTc	p.D651V	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.D473V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	651	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D651V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACTGGCTACGTCATTCCTCTC	0.562																																						uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1951-1953)GAC>GTC		protein tyrosine phosphatase, receptor type, H							135.0	105.0	115.0					19																	55708523		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708523T>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1952A>T	19.37:g.55708523T>A	ENSP00000365528:p.Asp651Val					PTPRH_uc010esv.2_Missense_Mutation_p.D473V|PTPRH_uc002qjs.2_Missense_Mutation_p.D658V	p.D651V	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	2025	-		Renal(1328;0.245)	651			Extracellular (Potential).|Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1952A>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223751	0.39300	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.51071	0.72;0.72	5.24	-2.45	0.06481	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.322340	0.05621	N	0.579840	T	0.41488	0.1161	L	0.29908	0.895	0.09310	N	1	P;P;P	0.47677	0.899;0.877;0.801	P;P;P	0.49047	0.599;0.533;0.565	T	0.41698	-0.9494	10	0.13853	T	0.58	.	11.4078	0.49908	0.0:0.6317:0.0:0.3683	.	473;473;651	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	V	651;473	ENSP00000365528:D651V;ENSP00000263434:D473V	ENSP00000263434:D473V	D	-	2	0	PTPRH	60400335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.173000	0.09854	-0.388000	0.07797	-0.899000	0.02877	GAC		PASS	0.562	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			12	13	12	13	---	---	---	---
ZNF586	54807	broad.mit.edu	37	19	58291011	58291011	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:58291011A>C	ENST00000396154.2	+	3	1229	c.1056A>C	c.(1054-1056)aaA>aaC	p.K352N	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.K309N|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	352					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.K352N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGTGGGAAATCCTTTGCTG	0.433																																						uc002qqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1054-1056)AAA>AAC		zinc finger protein 586							86.0	91.0	89.0					19																	58291011		2203	4299	6502	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58291011A>C	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.1056A>C	19.37:g.58291011A>C	ENSP00000379458:p.Lys352Asn					ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.K309N|ZNF586_uc002qqf.1_Intron	p.K352N	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1242	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	352			C2H2-type 10.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.1056A>C	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242681	0.22796	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.27890	1.64;1.64	1.65	0.593	0.17478	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56232	0.1971	M	0.89785	3.06	0.24911	N	0.992049	D	0.89917	1.0	D	0.87578	0.998	T	0.38329	-0.9666	9	0.87932	D	0	.	5.7416	0.18098	0.827:0.0:0.173:0.0	.	352	Q9NXT0	ZN586_HUMAN	N	352;309;352	ENSP00000375583:K309N;ENSP00000379458:K352N	ENSP00000375583:K309N	K	+	3	2	ZNF586	62982823	0.220000	0.23631	0.259000	0.24435	0.076000	0.17211	0.389000	0.20751	0.732000	0.32470	0.533000	0.62120	AAA		PASS	0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		13	72	13	72	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58565188	58565188	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:58565188C>T	ENST00000282326.1	+	6	1243	c.996C>T	c.(994-996)aaC>aaT	p.N332N		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	332					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.N332N(1)|p.N332K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCTGCACAACTCCGTCCTCA	0.637																																						uc002qrc.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)	2						c.(994-996)AAC>AAT		zinc finger and SCAN domain containing 1							67.0	59.0	62.0					19																	58565188		2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565188C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.996C>T	19.37:g.58565188C>T							p.N332N	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1243	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	332			C2H2-type 2.		Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.996C>T	CCDS12969.1																																																																																				PASS	0.637	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		27	31	27	31	---	---	---	---
ANKEF1	63926	broad.mit.edu	37	20	10036305	10036305	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:10036305C>G	ENST00000378380.3	+	10	2657	c.2328C>G	c.(2326-2328)acC>acG	p.T776T	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.T776T|SNAP25-AS1_ENST00000603542.1_RNA|AL109754.1_ENST00000408554.2_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	776							calcium ion binding (GO:0005509)	p.T776T(1)									CCTTGAAGACCTAAGTCATAG	0.433																																						uc002wno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2326-2328)ACC>ACG		ankyrin repeat domain protein 5							83.0	79.0	81.0					20																	10036305		2203	4300	6503	SO:0001819	synonymous_variant	63926						calcium ion binding	g.chr20:10036305C>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.2328C>G	20.37:g.10036305C>G						uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.T776T|ANKRD5_uc010gbz.2_Silent_p.T587T	p.T776T	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			11	2721	+			776					B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.2328C>G	CCDS13108.1																																																																																				PASS	0.433	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		8	35	8	35	---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13055086	13055086	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:13055086C>A	ENST00000399002.2	+	4	822	c.548C>A	c.(547-549)aCa>aAa	p.T183K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.T183K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	183					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.T156K(1)|p.T183K(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCTATGAGGACAATAAAGGAT	0.438																																						uc002wod.1																			2	Substitution - Missense(2)		lung(2)		0						c.(547-549)ACA>AAA		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						157.0	154.0	155.0					20																	13055086		1978	4169	6147	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13055086C>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.548C>A	20.37:g.13055086C>A	ENSP00000381968:p.Thr183Lys						p.T183K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			4	837	+			183					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.548C>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010597	0.19277	.	.	ENSG00000172296	ENST00000399002;ENST00000378194;ENST00000450297	D;D;D	0.94966	-2.71;-2.71;-3.57	6.17	3.94	0.45596	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199102	0.52532	N	0.000061	D	0.89044	0.6603	L	0.29908	0.895	0.37996	D	0.934064	B	0.12013	0.005	B	0.21546	0.035	T	0.82202	-0.0574	10	0.13853	T	0.58	-5.7977	11.5246	0.50571	0.3232:0.5627:0.1141:0.0	.	183	Q9NUV7	SPTC3_HUMAN	K	183;183;156	ENSP00000381968:T183K;ENSP00000367436:T183K;ENSP00000409125:T156K	ENSP00000367436:T183K	T	+	2	0	SPTLC3	13003086	0.624000	0.27102	0.009000	0.14445	0.026000	0.11368	2.488000	0.45276	0.667000	0.31107	0.655000	0.94253	ACA		PASS	0.438	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		18	69	18	69	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20177290	20177290	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:20177290G>T	ENST00000245957.5	+	16	1743	c.1667G>T	c.(1666-1668)gGg>gTg	p.G556V	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		556								p.G556V(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)		GAAGAACACGGGCACATGCAT	0.468																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1666-1668)GGG>GTG		hypothetical protein LOC26074							160.0	132.0	142.0					20																	20177290		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177290G>T																												ENST00000245957.5:c.1667G>T	20.37:g.20177290G>T	ENSP00000245957:p.Gly556Val					C20orf26_uc010zse.1_Missense_Mutation_p.G536V	p.G556V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1743	+			556					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1667G>T	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.698488|2.698488	0.48307|0.48307	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T|T	0.53640|0.44881	0.61|0.91	5.83|5.83	4.86|4.86	0.63082|0.63082	.|.	0.202885|0.202885	0.43260|0.43260	D|D	0.000597|0.000597	T|T	0.49304|0.49304	0.1549|0.1549	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;D	.|0.56521	.|0.916;0.976	.|P;P	.|0.49301	.|0.561;0.606	T|T	0.46707|0.46707	-0.9172|-0.9172	8|10	0.49607|0.28530	T|T	0.09|0.3	.|.	15.7898|15.7898	0.78345|0.78345	0.0:0.2573:0.7427:0.0|0.0:0.2573:0.7427:0.0	.|.	.|536;556	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	C|V	96|496;124;536;556	ENSP00000388074:G96C|ENSP00000245957:G556V	ENSP00000388074:G96C|ENSP00000245957:G556V	G|G	+|+	1|2	0|0	C20orf26|C20orf26	20125290|20125290	0.998000|0.998000	0.40836|0.40836	0.488000|0.488000	0.27440|0.27440	0.934000|0.934000	0.57294|0.57294	2.828000|2.828000	0.48120|0.48120	1.393000|1.393000	0.46605|0.46605	0.655000|0.655000	0.94253|0.94253	GGC|GGG		PASS	0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			20	59	20	59	---	---	---	---
CST11	140880	broad.mit.edu	37	20	23432461	23432461	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:23432461G>A	ENST00000377009.3	-	2	358	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	109					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L109F(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACCTTGTGAAGCTCCCTTTCC	0.463																																						uc002wtf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CTT>TTT		cystatin 11 isoform 1 precursor							118.0	103.0	108.0					20																	23432461		2203	4300	6503	SO:0001583	missense	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23432461G>A	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.325C>T	20.37:g.23432461G>A	ENSP00000366208:p.Leu109Phe					CST11_uc002wtg.1_Intron	p.L109F	NM_130794	NP_570612	Q9H112	CST11_HUMAN			2	359	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		109					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	37	c.325C>T	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572770	0.28092	.	.	ENSG00000125831	ENST00000377009	T	0.28069	1.63	3.96	3.96	0.45880	Proteinase inhibitor I25, cystatin (2);	0.441177	0.20673	N	0.087797	T	0.58595	0.2133	M	0.88640	2.97	0.46260	D	0.998951	D	0.89917	1.0	D	0.80764	0.994	T	0.62728	-0.6793	10	0.48119	T	0.1	-4.1265	11.8349	0.52319	0.0:0.0:1.0:0.0	.	109	Q9H112	CST11_HUMAN	F	109	ENSP00000366208:L109F	ENSP00000366208:L109F	L	-	1	0	CST11	23380461	0.575000	0.26692	0.061000	0.19648	0.030000	0.12068	1.938000	0.40203	2.486000	0.83907	0.585000	0.79938	CTT		PASS	0.463	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		7	22	7	22	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24523810	24523810	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:24523810T>C	ENST00000376862.3	+	2	710	c.77T>C	c.(76-78)aTt>aCt	p.I26T		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	26					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.I26T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AATGGTTTAATTAACACCAGA	0.547																																						uc002wtw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)ATT>ACT		transmembrane protein 90B							82.0	84.0	83.0					20																	24523810		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523810T>C	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.77T>C	20.37:g.24523810T>C	ENSP00000366058:p.Ile26Thr						p.I26T	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	710	+			26			Cytoplasmic (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.77T>C	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965958	0.34659	.	.	ENSG00000101463	ENST00000376862	D	0.93547	-3.24	5.95	4.82	0.62117	.	0.114808	0.56097	D	0.000021	D	0.91260	0.7245	L	0.60455	1.87	0.48696	D	0.999691	P	0.48764	0.915	B	0.43413	0.419	D	0.90051	0.4149	10	0.72032	D	0.01	-22.9717	9.2974	0.37824	0.16:0.0:0.0:0.84	.	26	Q9H7V2	SYNG1_HUMAN	T	26	ENSP00000366058:I26T	ENSP00000366058:I26T	I	+	2	0	SYNDIG1	24471810	1.000000	0.71417	0.350000	0.25708	0.115000	0.19883	4.046000	0.57376	1.027000	0.39758	0.533000	0.62120	ATT		PASS	0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		20	77	20	77	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36642218	36642218	+	Start_Codon_SNP	SNP	T	T	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:36642218T>C	ENST00000373448.2	-	3	239	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TTI1_ENST00000449821.1_Start_Codon_SNP_p.M1V|TTI1_ENST00000373447.3_Start_Codon_SNP_p.M1V|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	1					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.M1V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAAACTGCCATTGTGCAGCAG	0.473																																						uc002xhl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>GTG		hypothetical protein LOC9675							92.0	85.0	88.0					20																	36642218		2203	4300	6503	SO:0001582	initiator_codon_variant	9675						binding	g.chr20:36642218T>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1A>G	20.37:g.36642218T>C	ENSP00000362547:p.Met1Val					KIAA0406_uc002xhm.2_Missense_Mutation_p.M1V	p.M1V	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	210	-		Myeloproliferative disorder(115;0.00874)	1					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1A>G	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064526	0.55432	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.16597	2.33;2.33;2.33	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	.	.	.	0.80722	D	1	D	0.61697	0.99	D	0.72982	0.979	T	0.42766	-0.9432	9	0.87932	D	0	-24.0891	14.2372	0.65934	0.0:0.0:0.0:1.0	.	1	O43156	TTI1_HUMAN	V	1	ENSP00000362547:M1V;ENSP00000362546:M1V;ENSP00000407270:M1V	ENSP00000362546:M1V	M	-	1	0	TTI1	36075632	1.000000	0.71417	0.918000	0.36340	0.376000	0.30014	6.258000	0.72487	2.148000	0.66965	0.533000	0.62120	ATG		PASS	0.473	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657	Missense_Mutation	33	84	33	84	---	---	---	---
BPI	671	broad.mit.edu	37	20	36946843	36946843	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:36946843C>T	ENST00000262865.4	+	6	730	c.641C>T	c.(640-642)tCc>tTc	p.S214F	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	214					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.S214F(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AATTCTGTATCCTCCGAGCTG	0.493																																						uc002xib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(640-642)TCC>TTC		bactericidal/permeability-increasing protein							162.0	151.0	155.0					20																	36946843		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36946843C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.641C>T	20.37:g.36946843C>T	ENSP00000262865:p.Ser214Phe						p.S214F	NM_001725	NP_001716	P17213	BPI_HUMAN			6	703	+		Myeloproliferative disorder(115;0.00878)	214					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.641C>T	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.63|14.63	2.592420|2.592420	0.46214|0.46214	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000417318|ENST00000262865	.|T	.|0.05139	.|3.49	4.34|4.34	2.34|2.34	0.29019|0.29019	.|Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	.|1.012330	.|0.07925	.|N	.|0.976551	T|T	0.23886|0.23886	0.0578|0.0578	M|M	0.83692|0.83692	2.655|2.655	0.09310|0.09310	N|N	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.66716	.|0.946	T|T	0.06180|0.06180	-1.0841|-1.0841	5|10	.|0.66056	.|D	.|0.02	-17.4316|-17.4316	6.705|6.705	0.23246|0.23246	0.1811:0.7201:0.0:0.0988|0.1811:0.7201:0.0:0.0988	.|.	.|214	.|P17213	.|BPI_HUMAN	S|F	40|214	.|ENSP00000262865:S214F	.|ENSP00000262865:S214F	P|S	+|+	1|2	0|0	BPI|BPI	36380257|36380257	0.000000|0.000000	0.05858|0.05858	0.873000|0.873000	0.34254|0.34254	0.026000|0.026000	0.11368|0.11368	-0.365000|-0.365000	0.07573|0.07573	1.130000|1.130000	0.42092|0.42092	0.555000|0.555000	0.69702|0.69702	CCT|TCC		PASS	0.493	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		18	97	18	97	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146564	37146564	+	Silent	SNP	C	C	G	rs148846201		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:37146564C>G	ENST00000262879.6	+	9	1622	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	RALGAPB_ENST00000397040.1_Silent_p.L446L|RALGAPB_ENST00000537204.1_Silent_p.L446L|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397042.3_Silent_p.L446L|RALGAPB_ENST00000397038.1_Silent_p.L224L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	446					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L446L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTTGAATCTCTTTGGATCAT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18998	0.001		0.0	False		,,,				2504	0.0					uc002xiw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1336-1338)CTC>CTG		Ral GTPase activating protein, beta subunit							138.0	130.0	133.0					20																	37146564		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146564C>G	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1338C>G	20.37:g.37146564C>G						RALGAPB_uc010zvz.1_Silent_p.L446L|RALGAPB_uc002xix.2_Silent_p.L446L|RALGAPB_uc002xiy.1_Silent_p.L446L|RALGAPB_uc002xiz.2_Silent_p.L224L|RALGAPB_uc002xja.1_Silent_p.L173L	p.L446L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			9	1595	+			446					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.1338C>G	CCDS13305.1																																																																																				PASS	0.443	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		10	42	10	42	---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49509695	49509695	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:49509695G>A	ENST00000396029.3	-	5	2123	c.1556C>T	c.(1555-1557)tCa>tTa	p.S519L	ADNP_ENST00000396032.3_Missense_Mutation_p.S519L|ADNP_ENST00000349014.3_Missense_Mutation_p.S519L|ADNP_ENST00000371602.4_Missense_Mutation_p.S519L	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	519					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S519L(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATTGAAAGTTGAACGGCAATA	0.393																																						uc002xvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1555-1557)TCA>TTA		activity-dependent neuroprotector							166.0	163.0	164.0					20																	49509695		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509695G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1556C>T	20.37:g.49509695G>A	ENSP00000379346:p.Ser519Leu					ADNP_uc002xvu.1_Missense_Mutation_p.S519L	p.S519L	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN			5	1901	-			519			C2H2-type 7.		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.1556C>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477682	0.44044	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	6.01	0.97437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054330	0.85682	D	0.000000	T	0.51907	0.1702	L	0.34521	1.04	0.54753	D	0.999989	P	0.47762	0.9	B	0.41332	0.354	T	0.51325	-0.8720	9	0.42905	T	0.14	-21.3236	20.5211	0.99222	0.0:0.0:1.0:0.0	.	519	Q9H2P0	ADNP_HUMAN	L	519	.	ENSP00000342905:S519L	S	-	2	0	ADNP	48943102	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	7.630000	0.83225	2.861000	0.98227	0.650000	0.86243	TCA		PASS	0.393	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		18	146	18	146	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58330363	58330363	+	Missense_Mutation	SNP	C	C	T	rs145693547	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr20:58330363C>T	ENST00000371015.1	+	4	952	c.485C>T	c.(484-486)aCg>aTg	p.T162M	PHACTR3_ENST00000395636.2_Missense_Mutation_p.T121M|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T121M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000395639.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000361300.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T159M	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	162						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.T162M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCCACTGGGACGGACCAGGTC	0.607													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		13645	0.0		0.0	False		,,,				2504	0.001					uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(484-486)ACG>ATG		phosphatase and actin regulator 3 isoform 1		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	40.0	35.0	37.0		476,362,485,362,362	0.4	0.0	20	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	81,81,81,81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/557,121/519,162/560,121/519,121/449	58330363	3,13003	2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58330363C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.485C>T	20.37:g.58330363C>T	ENSP00000360054:p.Thr162Met					PHACTR3_uc002yat.2_Missense_Mutation_p.T159M|PHACTR3_uc010zzw.1_Missense_Mutation_p.T121M|PHACTR3_uc002yav.2_Missense_Mutation_p.T121M|PHACTR3_uc002yaw.2_Missense_Mutation_p.T121M|PHACTR3_uc002yax.2_Missense_Mutation_p.T121M	p.T162M	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		4	952	+	all_lung(29;0.00344)		162					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.485C>T	CCDS13480.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.86	2.064792	0.36470	4.54E-4	1.16E-4	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33438	1.85;1.86;1.41;1.86;1.86;1.86;1.41	3.6	0.373	0.16178	.	0.555420	0.19899	N	0.103544	T	0.38558	0.1045	L	0.46157	1.445	0.09310	N	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.959;0.959	T	0.13602	-1.0503	10	0.40728	T	0.16	-6.8102	3.5926	0.07994	0.1956:0.5729:0.0:0.2315	.	121;162;159	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	M	159;162;121;121;121;121;121	ENSP00000353002:T159M;ENSP00000360054:T162M;ENSP00000379001:T121M;ENSP00000442483:T121M;ENSP00000347866:T121M;ENSP00000378998:T121M;ENSP00000354555:T121M	ENSP00000347866:T121M	T	+	2	0	PHACTR3	57763758	0.116000	0.22171	0.017000	0.16124	0.052000	0.14988	1.158000	0.31737	-0.010000	0.14271	-0.282000	0.10007	ACG		PASS	0.607	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		11	8	11	8	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10906916	10906916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:10906916C>A	ENST00000361285.4	-	24	1974	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Nonsense_Mutation_p.G531*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.G511*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	549			G -> E (in dbSNP:rs169758).		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.G549*(1)|p.G531*(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)		TAATCGGATCCAGCTACAACA	0.393																																						uc002yip.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1645-1647)GGA>TGA		transmembrane phosphatase with tensin homology							135.0	119.0	124.0					21																	10906916		2203	4300	6503	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906916C>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.1645G>T	21.37:g.10906916C>A	ENSP00000355208:p.Gly549*					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.G531*|TPTE_uc002yir.1_Nonsense_Mutation_p.G511*|TPTE_uc010gkv.1_Nonsense_Mutation_p.G411*	p.G549*	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)	24	2013	-			549					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1645G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	20.4	3.986455	0.74589	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	1.79	0.877	0.19145	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.3638	0.11215	0.0:0.7896:0.0:0.2104	.	.	.	.	X	531;549;511	.	ENSP00000298232:G531X	G	-	1	0	TPTE	9928787	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.829000	0.04415	0.305000	0.22832	0.184000	0.17185	GGA		PASS	0.393	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	37	4	37	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10906937	10906937	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:10906937T>A	ENST00000361285.4	-	24	1953	c.1624A>T	c.(1624-1626)Act>Tct	p.T542S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.T524S|TPTE_ENST00000342420.5_Missense_Mutation_p.T504S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	542					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.T542S(1)|p.T524S(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)		TCACTGGAAGTCATTTTCTCG	0.383																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1624-1626)ACT>TCT		transmembrane phosphatase with tensin homology							145.0	128.0	134.0					21																	10906937		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906937T>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.1624A>T	21.37:g.10906937T>A	ENSP00000355208:p.Thr542Ser					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T524S|TPTE_uc002yir.1_Missense_Mutation_p.T504S|TPTE_uc010gkv.1_Missense_Mutation_p.T404S	p.T542S	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)	24	1992	-			542					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1624A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	1.877	-0.458696	0.04508	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.94280	-3.25;-3.39;-3.37	1.6	-3.21	0.05140	.	.	.	.	.	T	0.74869	0.3773	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.31193	0.312;0.312;0.022	B;B;B	0.19666	0.026;0.026;0.01	T	0.70403	-0.4881	9	0.09338	T	0.73	.	2.7788	0.05355	0.19:0.0:0.3953:0.4147	.	504;524;542	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	524;542;504	ENSP00000298232:T524S;ENSP00000355208:T542S;ENSP00000344441:T504S	ENSP00000298232:T524S	T	-	1	0	TPTE	9928808	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.025000	0.13577	-0.901000	0.03891	0.155000	0.16302	ACT		PASS	0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	44	6	44	---	---	---	---
KRTAP11-1	337880	broad.mit.edu	37	21	32253731	32253731	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:32253731C>A	ENST00000332378.4	-	1	143	c.113G>T	c.(112-114)gGc>gTc	p.G38V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	38						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G38V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAGATGCCGCCCAGGCAGTC	0.567																																						uc002yov.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(112-114)GGC>GTC		keratin associated protein 11-1							76.0	73.0	74.0					21																	32253731		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253731C>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.113G>T	21.37:g.32253731C>A	ENSP00000330720:p.Gly38Val						p.G38V	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			1	144	-			38					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.113G>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960453	0.34565	.	.	ENSG00000182591	ENST00000332378	T	0.03035	4.07	5.4	3.54	0.40534	.	0.366329	0.28021	N	0.016914	T	0.05364	0.0142	L	0.42245	1.32	0.40794	D	0.983283	B	0.27286	0.174	B	0.37346	0.247	T	0.34900	-0.9810	10	0.46703	T	0.11	-5.3129	7.9645	0.30091	0.0:0.7418:0.0:0.2582	.	38	Q8IUC1	KR111_HUMAN	V	38	ENSP00000330720:G38V	ENSP00000330720:G38V	G	-	2	0	KRTAP11-1	31175602	0.152000	0.22762	0.998000	0.56505	0.857000	0.48899	1.238000	0.32707	1.428000	0.47296	0.650000	0.86243	GGC		PASS	0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			7	47	7	47	---	---	---	---
GART	2618	broad.mit.edu	37	21	34904752	34904752	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:34904752G>T	ENST00000381831.3	-	5	690	c.427C>A	c.(427-429)Cct>Act	p.P143T	GART_ENST00000361093.5_Missense_Mutation_p.P143T|GART_ENST00000381839.3_Missense_Mutation_p.P143T|GART_ENST00000381815.4_Missense_Mutation_p.P143T|GART_ENST00000497313.1_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	143	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.P143T(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACCAAAGCAGGGAAGTCTGCA	0.423																																						uc002yrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(427-429)CCT>ACT		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						150.0	156.0	154.0					21																	34904752		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34904752G>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.427C>A	21.37:g.34904752G>T	ENSP00000371253:p.Pro143Thr					GART_uc002yrz.2_Missense_Mutation_p.P143T|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.P143T|GART_uc002ysa.2_Missense_Mutation_p.P143T	p.P143T	NM_000819	NP_000810	P22102	PUR2_HUMAN			5	562	-			143			ATP (By similarity).|ATP-grasp.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.427C>A	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062577	0.93898	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.51574	1.29;1.29;1.29;1.27;0.7;0.7	6.07	6.07	0.98685	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.92077	3.27	0.80722	D	1	P	0.38922	0.651	P	0.47915	0.561	T	0.75932	-0.3143	10	0.87932	D	0	-23.7084	20.6593	0.99626	0.0:0.0:1.0:0.0	.	143	P22102	PUR2_HUMAN	T	143	ENSP00000371236:P143T;ENSP00000371253:P143T;ENSP00000371261:P143T;ENSP00000354388:P143T;ENSP00000413040:P143T;ENSP00000398631:P143T	ENSP00000354388:P143T	P	-	1	0	GART	33826622	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	CCT		PASS	0.423	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		9	165	9	165	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38877629	38877629	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:38877629G>C	ENST00000398960.2	+	9	1358	c.1283G>C	c.(1282-1284)gGa>gCa	p.G428A	DYRK1A_ENST00000338785.3_Missense_Mutation_p.G428A|DYRK1A_ENST00000339659.4_Missense_Mutation_p.G419A|DYRK1A_ENST00000451934.1_Missense_Mutation_p.G428A|DYRK1A_ENST00000398956.2_Missense_Mutation_p.G428A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.G200A|DYRK1A_ENST00000321219.8_Missense_Mutation_p.G428A	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.G428A(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACATTCTTGGAGTGGAAACA	0.453																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1282-1284)GGA>GCA		dual-specificity tyrosine-(Y)-phosphorylation							77.0	75.0	75.0					21																	38877629		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38877629G>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1283G>C	21.37:g.38877629G>C	ENSP00000381932:p.Gly428Ala					DYRK1A_uc002ywi.2_Missense_Mutation_p.G428A|DYRK1A_uc002ywj.2_Missense_Mutation_p.G419A|DYRK1A_uc002ywl.2_Missense_Mutation_p.G428A|DYRK1A_uc002ywm.2_Missense_Mutation_p.G428A|DYRK1A_uc011aei.1_Missense_Mutation_p.G189A	p.G428A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			9	1358	+			428			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1283G>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965442	0.92855	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.58358	0.44;0.34;0.47;0.44;0.34;0.47;0.89	5.83	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051037	0.85682	D	0.000000	T	0.64864	0.2637	L	0.42686	1.345	0.80722	D	1	D;D;D;D;D	0.65815	0.984;0.984;0.994;0.993;0.995	P;P;D;P;P	0.64877	0.794;0.794;0.93;0.884;0.851	T	0.68454	-0.5404	10	0.72032	D	0.01	.	16.7342	0.85443	0.0:0.1294:0.8706:0.0	.	428;428;428;419;428	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	A	428;419;428;428;428;428;200	ENSP00000342690:G428A;ENSP00000340373:G419A;ENSP00000319032:G428A;ENSP00000416089:G428A;ENSP00000381932:G428A;ENSP00000381929:G428A;ENSP00000407854:G200A	ENSP00000319032:G428A	G	+	2	0	DYRK1A	37799499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	1.431000	0.47355	0.650000	0.86243	GGA		PASS	0.453	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		10	33	10	33	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43412128	43412128	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:43412128G>A	ENST00000310826.5	-	3	2260	c.2077C>T	c.(2077-2079)Cca>Tca	p.P693S	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.P693S|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P693S	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	693					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.P693S(1)									TTTTCTCCTGGATGCATTTTT	0.433																																						uc002zab.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2077-2079)CCA>TCA		zinc finger protein 295 isoform L							120.0	140.0	133.0					21																	43412128		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43412128G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2077C>T	21.37:g.43412128G>A	ENSP00000308759:p.Pro693Ser					ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.P693S|ZNF295_uc002zaa.3_Missense_Mutation_p.P693S	p.P693S	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2291	-			693					Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2077C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044779	0.55110	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.59083	0.29;0.29;0.29	5.53	5.53	0.82687	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.071677	0.56097	D	0.000023	T	0.59032	0.2164	L	0.43152	1.355	0.48571	D	0.999676	D	0.62365	0.991	P	0.50192	0.634	T	0.52019	-0.8631	10	0.15066	T	0.55	-15.7677	19.466	0.94939	0.0:0.0:1.0:0.0	.	693	Q9ULJ3	ZN295_HUMAN	S	693	ENSP00000308759:P693S;ENSP00000381512:P693S;ENSP00000381523:P693S	ENSP00000308759:P693S	P	-	1	0	ZNF295	42285197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.972000	0.63756	2.607000	0.88179	0.655000	0.94253	CCA		PASS	0.433	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		26	161	26	161	---	---	---	---
UBASH3A	53347	broad.mit.edu	37	21	43867227	43867227	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:43867227G>C	ENST00000319294.6	+	15	1940	c.1909G>C	c.(1909-1911)Gtg>Ctg	p.V637L	UBASH3A_ENST00000291535.6_Missense_Mutation_p.V599L|UBASH3A_ENST00000398367.1_Missense_Mutation_p.W526C	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	637	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V637L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGGGAGTTGGTGAACCCACC	0.473																																						uc002zbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1909-1911)GTG>CTG		ubiquitin associated and SH3 domain containing,							142.0	146.0	145.0					21																	43867227		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43867227G>C	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1909G>C	21.37:g.43867227G>C	ENSP00000317327:p.Val637Leu					UBASH3A_uc002zbf.2_Missense_Mutation_p.V599L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.W526C	p.V637L	NM_018961	NP_061834	P57075	UBS3A_HUMAN			15	1945	+			637			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1909G>C	CCDS13687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.843|9.843	1.191572|1.191572	0.21954|0.21954	.|.	.|.	ENSG00000160185|ENSG00000160185	ENST00000291535;ENST00000319294|ENST00000398367	T;T|T	0.29655|0.09630	1.56;1.56|2.96	4.46|4.46	2.41|2.41	0.29592|0.29592	.|.	0.807231|.	0.10635|.	N|.	0.651700|.	T|T	0.09686|0.09686	0.0238|0.0238	L|L	0.39898|0.39898	1.24|1.24	0.19300|0.19300	N|N	0.999971|0.999971	B;B|B	0.21309|0.11235	0.05;0.054|0.004	B;B|B	0.21360|0.14578	0.034;0.022|0.011	T|T	0.23726|0.23726	-1.0180|-1.0180	10|9	0.54805|0.87932	T|D	0.06|0	-16.4855|-16.4855	6.8326|6.8326	0.23919|0.23919	0.111:0.1854:0.7035:0.0|0.111:0.1854:0.7035:0.0	.|.	599;637|526	P57075-2;P57075|G5E9E4	.;UBS3A_HUMAN|.	L|C	599;637|526	ENSP00000291535:V599L;ENSP00000317327:V637L|ENSP00000381408:W526C	ENSP00000291535:V599L|ENSP00000381408:W526C	V|W	+|+	1|3	0|0	UBASH3A|UBASH3A	42740296|42740296	1.000000|1.000000	0.71417|0.71417	0.403000|0.403000	0.26384|0.26384	0.445000|0.445000	0.32107|0.32107	1.492000|1.492000	0.35594|0.35594	1.042000|1.042000	0.40150|0.40150	0.563000|0.563000	0.77884|0.77884	GTG|TGG		PASS	0.473	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		31	105	31	105	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46309233	46309233	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr21:46309233C>A	ENST00000397850.2	-	14	2287	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	ITGB2_ENST00000397857.1_Missense_Mutation_p.C612F|ITGB2_ENST00000397854.3_Missense_Mutation_p.C555F|ITGB2_ENST00000355153.4_Missense_Mutation_p.C612F|ITGB2_ENST00000302347.5_Missense_Mutation_p.C612F|ITGB2_ENST00000397852.1_Missense_Mutation_p.C612F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	612	Cysteine-rich tandem repeats.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.C612F(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCACTCCTGGCACAGAGGCAG	0.672																																						uc002zgd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(1834-1836)TGC>TTC		integrin, beta 2 precursor	Simvastatin(DB00641)						52.0	47.0	49.0					21																	46309233		2203	4299	6502	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46309233C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1835G>T	21.37:g.46309233C>A	ENSP00000380948:p.Cys612Phe					ITGB2_uc002zge.2_Missense_Mutation_p.C612F|ITGB2_uc002zgf.3_Missense_Mutation_p.C612F|ITGB2_uc011afl.1_Missense_Mutation_p.C534F|ITGB2_uc010gpw.2_Missense_Mutation_p.C555F|ITGB2_uc002zgg.2_Missense_Mutation_p.C612F	p.C612F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	12	1879	-			612			Extracellular (Potential).|Cysteine-rich tandem repeats.|IV.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.1835G>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730683	0.48939	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35;-3.35	4.7	4.7	0.59300	.	.	.	.	.	D	0.97983	0.9336	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.98847	1.0757	9	0.87932	D	0	.	13.5007	0.61454	0.0:1.0:0.0:0.0	.	555;612	A8MYE6;P05107	.;ITB2_HUMAN	F	612;612;555;612;612;612	ENSP00000380950:C612F;ENSP00000380955:C612F;ENSP00000380952:C555F;ENSP00000347279:C612F;ENSP00000380948:C612F;ENSP00000303242:C612F	ENSP00000303242:C612F	C	-	2	0	ITGB2	45133661	1.000000	0.71417	0.054000	0.19295	0.131000	0.20780	6.711000	0.74675	2.297000	0.77311	0.655000	0.94253	TGC		PASS	0.672	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		3	13	3	13	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17583061	17583061	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:17583061A>T	ENST00000319363.6	+	7	764	c.631A>T	c.(631-633)Acc>Tcc	p.T211S		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	211					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.T211S(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CACCGTGGAGACCCTGGAGGC	0.587																																						uc002zly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(631-633)ACC>TCC		interleukin 17A receptor precursor							129.0	113.0	118.0					22																	17583061		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17583061A>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.631A>T	22.37:g.17583061A>T	ENSP00000320936:p.Thr211Ser					IL17RA_uc010gqt.2_Missense_Mutation_p.T211S	p.T211S	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	7	764	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	211			Extracellular (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.631A>T	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	A	1.542	-0.541627	0.04053	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.05649	3.41	5.23	-2.69	0.06022	.	1.462200	0.04289	N	0.345095	T	0.06096	0.0158	L	0.55481	1.735	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.08055	0.001;0.003	T	0.43718	-0.9374	10	0.07990	T	0.79	-2.086	5.3036	0.15791	0.4392:0.2655:0.2953:0.0	.	211;211	D3YTB4;Q96F46	.;I17RA_HUMAN	S	211	ENSP00000320936:T211S	ENSP00000320936:T211S	T	+	1	0	IL17RA	15963061	0.111000	0.22076	0.001000	0.08648	0.002000	0.02628	0.543000	0.23237	-0.551000	0.06175	-0.464000	0.05259	ACC		PASS	0.587	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		5	44	5	44	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26270319	26270319	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:26270319A>G	ENST00000407587.2	+	23	4190	c.4021A>G	c.(4021-4023)Atc>Gtc	p.I1341V	MYO18B_ENST00000335473.7_Missense_Mutation_p.I1340V|MYO18B_ENST00000536101.1_Missense_Mutation_p.I1340V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1340	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I1341V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCTCAGAGCATCGTTCTCTT	0.537																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4018-4020)ATC>GTC		myosin XVIIIB							96.0	94.0	95.0					22																	26270319		1904	4134	6038	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26270319A>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4021A>G	22.37:g.26270319A>G	ENSP00000386096:p.Ile1341Val					MYO18B_uc003aca.1_Missense_Mutation_p.I1221V|MYO18B_uc010guy.1_Missense_Mutation_p.I1222V|MYO18B_uc010guz.1_Missense_Mutation_p.I1221V|MYO18B_uc011aka.1_Missense_Mutation_p.I494V|MYO18B_uc011akb.1_Missense_Mutation_p.I853V	p.I1340V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			23	4268	+			1340			IQ.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4018A>G		.	.	.	.	.	.	.	.	.	.	A	14.23	2.473066	0.43942	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.71461	-0.57;-0.57;-0.57	5.45	3.31	0.37934	.	0.173830	0.38272	N	0.001750	T	0.64204	0.2577	M	0.63428	1.95	0.31151	N	0.705538	B;B;B;B	0.27013	0.101;0.103;0.135;0.166	B;B;B;B	0.30572	0.074;0.055;0.08;0.117	T	0.65005	-0.6273	10	0.52906	T	0.07	.	5.4563	0.16592	0.7596:0.0:0.0845:0.1558	.	853;1340;1341;1340	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1340;1340;1341	ENSP00000441229:I1340V;ENSP00000334563:I1340V;ENSP00000386096:I1341V	ENSP00000334563:I1340V	I	+	1	0	MYO18B	24600319	0.101000	0.21875	0.452000	0.26994	0.957000	0.61999	0.551000	0.23361	0.872000	0.35775	0.528000	0.53228	ATC		PASS	0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		18	42	18	42	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30189468	30189468	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:30189468C>T	ENST00000397771.2	-	18	1977	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q	ASCC2_ENST00000307790.3_Silent_p.Q600Q|ASCC2_ENST00000542393.1_Silent_p.Q524Q			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Q600Q(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTCGCCTGGCTGCAGTGGCA	0.607																																						uc003agr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1798-1800)CAG>CAA		activating signal cointegrator 1 complex subunit							66.0	53.0	58.0					22																	30189468		2203	4300	6503	SO:0001819	synonymous_variant	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30189468C>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1800G>A	22.37:g.30189468C>T						ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Silent_p.Q600Q|ASCC2_uc011akr.1_Silent_p.Q524Q	p.Q600Q	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		17	1905	-			600					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	37	c.1800G>A	CCDS13869.1																																																																																				PASS	0.607	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		3	20	3	20	---	---	---	---
SYN3	8224	broad.mit.edu	37	22	33260987	33260987	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:33260987G>T	ENST00000358763.2	-	6	868	c.626C>A	c.(625-627)tCt>tAt	p.S209Y	SYN3_ENST00000332840.5_Missense_Mutation_p.S209Y	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	209	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.S209Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AATGAGCTGAGAGAACTAGGA	0.453																																						uc003amx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(625-627)TCT>TAT		synapsin III isoform IIIa							160.0	161.0	161.0					22																	33260987		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33260987G>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.626C>A	22.37:g.33260987G>T	ENSP00000351614:p.Ser209Tyr					SYN3_uc003amy.2_Missense_Mutation_p.S209Y|SYN3_uc003amz.2_Missense_Mutation_p.S208Y	p.S209Y	NM_003490	NP_003481	O14994	SYN3_HUMAN			5	785	-			209			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.626C>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236688	0.79800	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.34472	1.36;1.36	5.91	5.91	0.95273	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.69157	-0.5219	10	0.87932	D	0	-3.6553	20.2985	0.98592	0.0:0.0:1.0:0.0	.	208;209;209	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	Y	209	ENSP00000351614:S209Y;ENSP00000330219:S209Y	ENSP00000330219:S209Y	S	-	2	0	SYN3	31590987	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.937000	0.87672	2.793000	0.96121	0.655000	0.94253	TCT		PASS	0.453	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			7	169	7	169	---	---	---	---
TST	7263	broad.mit.edu	37	22	37407247	37407247	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:37407247C>G	ENST00000403892.3	-	2	1449	c.715G>C	c.(715-717)Gat>Cat	p.D239H	TST_ENST00000249042.3_Missense_Mutation_p.D239H|Y_RNA_ENST00000516603.1_RNA	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	239	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)	p.D239H(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TGCGAGAGATCCACCTTCTTG	0.607																																						uc003aqg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GAT>CAT		thiosulfate sulfurtransferase							53.0	39.0	44.0					22																	37407247		2203	4300	6503	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407247C>G	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.715G>C	22.37:g.37407247C>G	ENSP00000385828:p.Asp239His					TST_uc003aqh.2_Missense_Mutation_p.D239H	p.D239H	NM_003312	NP_003303	Q16762	THTR_HUMAN			2	1415	-			239			Rhodanese 2.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.715G>C	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553022	0.86127	.	.	ENSG00000128311	ENST00000403892;ENST00000249042	T;T	0.51071	0.72;0.72	5.08	3.94	0.45596	Rhodanese-like (5);	0.098061	0.64402	D	0.000002	T	0.58090	0.2098	M	0.91090	3.175	0.80722	D	1	B	0.25719	0.132	B	0.30179	0.112	T	0.63033	-0.6727	10	0.66056	D	0.02	-31.1238	11.9279	0.52829	0.0:0.9054:0.0:0.0946	.	239	Q16762	THTR_HUMAN	H	239	ENSP00000385828:D239H;ENSP00000249042:D239H	ENSP00000249042:D239H	D	-	1	0	TST	35737193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.353000	0.59411	1.102000	0.41551	0.655000	0.94253	GAT		PASS	0.607	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			6	11	6	11	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120492	38120492	+	Silent	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:38120492C>A	ENST00000406386.3	+	7	2184	c.1929C>A	c.(1927-1929)acC>acA	p.T643T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	643					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.T643T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACAGAACCACCCAACAAGACA	0.572																																						uc003atr.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1927-1929)ACC>ACA		TRIO and F-actin binding protein isoform 6							151.0	171.0	164.0					22																	38120492		1979	4162	6141	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120492C>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1929C>A	22.37:g.38120492C>A						TRIOBP_uc003atu.2_Silent_p.T471T|TRIOBP_uc003atq.1_Silent_p.T643T|TRIOBP_uc003ats.1_Silent_p.T471T	p.T643T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2200	+	Melanoma(58;0.0574)		643					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1929C>A	CCDS43015.1																																																																																				PASS	0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	116	7	116	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38524296	38524296	+	Missense_Mutation	SNP	G	G	A	rs375740918		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:38524296G>A	ENST00000332509.3	-	9	1511	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L	PLA2G6_ENST00000402064.1_Intron|PLA2G6_ENST00000335539.3_Intron|PLA2G6_ENST00000490473.1_5'Flank	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	443					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.P443L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TAGGCTGATCGGTGGGGGCTG	0.642																																						uc003auy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1327-1329)CCG>CTG		phospholipase A2, group VI isoform a	Quinacrine(DB01103)	G	,,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	100.0	95.0	97.0		,,1328	2.3	0.9	22		97	0,8600		0,0,4300	no	intron,intron,missense	PLA2G6	NM_001004426.1,NM_001199562.1,NM_003560.2	,,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,443/807	38524296	1,13005	2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38524296G>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1328C>T	22.37:g.38524296G>A	ENSP00000333142:p.Pro443Leu					PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Missense_Mutation_p.P443L|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.P408L	p.P443L	NM_003560	NP_003551	O60733	PA2G6_HUMAN			9	1464	-	Melanoma(58;0.045)		443					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1328C>T	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.150308|3.150308	0.57151|0.57151	2.27E-4|2.27E-4	0.0|0.0	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000452794	T|.	0.62105|.	0.05|.	4.78|4.78	2.35|2.35	0.29111|0.29111	.|.	0.621039|.	0.17339|.	N|.	0.177818|.	T|.	0.24547|.	0.0595|.	N|N	0.14661|0.14661	0.345|0.345	0.29597|0.29597	N|N	0.847952|0.847952	B;B|.	0.30211|.	0.273;0.003|.	B;B|.	0.20184|.	0.028;0.001|.	T|.	0.20605|.	-1.0270|.	10|.	0.27082|.	T|.	0.32|.	-18.9942|-18.9942	6.5952|6.5952	0.22669|0.22669	0.0:0.2802:0.4442:0.2756|0.0:0.2802:0.4442:0.2756	.|.	408;443|.	B7Z6K3;O60733|.	.;PA2G6_HUMAN|.	L|X	443;304;371;443;408|100	ENSP00000333142:P443L|.	ENSP00000333142:P443L|.	P|R	-|-	2|1	0|2	PLA2G6|PLA2G6	36854242|36854242	0.008000|0.008000	0.16893|0.16893	0.886000|0.886000	0.34754|0.34754	0.977000|0.977000	0.68977|0.68977	1.639000|1.639000	0.37176|0.37176	1.129000|1.129000	0.42072|0.42072	0.563000|0.563000	0.77884|0.77884	CCG|CGA		PASS	0.642	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		21	36	21	36	---	---	---	---
MGAT3	4248	broad.mit.edu	37	22	39884666	39884666	+	Silent	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:39884666C>T	ENST00000341184.6	+	2	1529	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	438					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.G438G(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCCAGAATGGCGACTTCCCAC	0.662																																						uc003axv.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1312-1314)GGC>GGT		mannosyl (beta-1,4-)-glycoprotein							57.0	55.0	56.0					22																	39884666		2203	4300	6503	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884666C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1314C>T	22.37:g.39884666C>T						MGAT3_uc010gxy.2_Silent_p.G438G	p.G438G	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	1553	+	Melanoma(58;0.04)		438			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1314C>T	CCDS13994.2																																																																																				PASS	0.662	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		13	17	13	17	---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41318337	41318337	+	Splice_Site	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:41318337G>T	ENST00000357137.4	+	8	1140	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	XPNPEP3_ENST00000544094.1_Splice_Site_p.R329S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	352					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.R352S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CCGTCCCCAGGTTCACCGCAC	0.448																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)AGG>AGT		X-prolyl aminopeptidase (aminopeptidase P) 3,							116.0	113.0	114.0					22																	41318337		2203	4300	6503	SO:0001630	splice_region_variant	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41318337G>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1056-1G>T	22.37:g.41318337G>T						XPNPEP3_uc003azi.2_Missense_Mutation_p.R273S|XPNPEP3_uc011aoy.1_RNA	p.R352S	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			8	1148	+			352					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1056G>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291945	0.23564	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.76316	-1.01;-1.01	5.85	3.77	0.43336	Peptidase M24, structural domain (3);	0.041876	0.85682	D	0.000000	T	0.80798	0.4692	L	0.52823	1.66	0.53005	D	0.99996	D	0.54964	0.969	P	0.56434	0.798	T	0.78628	-0.2130	9	.	.	.	.	11.8574	0.52446	0.1425:0.0:0.8575:0.0	.	352	Q9NQH7	XPP3_HUMAN	S	352;329	ENSP00000349658:R352S;ENSP00000441942:R329S	.	R	+	3	2	XPNPEP3	39648283	1.000000	0.71417	0.993000	0.49108	0.061000	0.15899	3.950000	0.56676	0.802000	0.34089	0.655000	0.94253	AGG		PASS	0.448	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098	Missense_Mutation	22	105	22	105	---	---	---	---
PPARA	5465	broad.mit.edu	37	22	46627709	46627709	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:46627709G>T	ENST00000396000.2	+	7	997	c.732G>T	c.(730-732)atG>atT	p.M244I	PPARA_ENST00000407236.1_Missense_Mutation_p.M244I|PPARA_ENST00000402126.1_Missense_Mutation_p.M244I|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.M244I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	244					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.M244I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TACATGATATGGAGACACTGT	0.527																																						uc003bgw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(730-732)ATG>ATT		peroxisome proliferative activated receptor,	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						80.0	49.0	59.0					22																	46627709		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627709G>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.732G>T	22.37:g.46627709G>T	ENSP00000379322:p.Met244Ile					PPARA_uc003bgx.1_Missense_Mutation_p.M244I|PPARA_uc010hab.1_Missense_Mutation_p.M244I|PPARA_uc003bhb.1_Missense_Mutation_p.M244I|PPARA_uc010hac.1_Missense_Mutation_p.M41I	p.M244I	NM_005036	NP_005027	Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	8	998	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	244					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.732G>T	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591577	0.66219	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	L	0.45581	1.43	0.80722	D	1	B;P	0.52170	0.002;0.951	B;P	0.52159	0.016;0.691	T	0.70011	-0.4989	10	0.39692	T	0.17	.	18.1236	0.89579	0.0:0.0:1.0:0.0	.	25;244	F5H1U1;Q07869	.;PPARA_HUMAN	I	244;244;25;244;244	ENSP00000379322:M244I;ENSP00000262735:M244I;ENSP00000385523:M244I;ENSP00000385246:M244I	ENSP00000262735:M244I	M	+	3	0	PPARA	45006373	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	9.632000	0.98428	2.518000	0.84900	0.655000	0.94253	ATG		PASS	0.527	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		5	21	5	21	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46760592	46760592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:46760592G>A	ENST00000262738.3	-	33	8595	c.8596C>T	c.(8596-8598)Cag>Tag	p.Q2866*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2866					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.Q2866*(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCAGGCTCTGGTCGGGCCAG	0.692																																						uc003bhw.1																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(8596-8598)CAG>TAG		cadherin EGF LAG seven-pass G-type receptor 1							25.0	27.0	26.0					22																	46760592		2191	4295	6486	SO:0001587	stop_gained	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46760592G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8596C>T	22.37:g.46760592G>A	ENSP00000262738:p.Gln2866*						p.Q2866*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	33	8596	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2866			Cytoplasmic (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Nonsense_Mutation	SNP	ENST00000262738.3	37	c.8596C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	48	14.641038	0.99804	.	.	ENSG00000075275	ENST00000262738	.	.	.	4.76	3.74	0.42951	.	0.486117	0.15980	U	0.235337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	14.387	0.66953	0.0:0.8436:0.1564:0.0	.	.	.	.	X	2866	.	ENSP00000262738:Q2866X	Q	-	1	0	CELSR1	45139256	0.975000	0.34042	0.352000	0.25734	0.038000	0.13279	2.820000	0.48057	0.987000	0.38709	-0.344000	0.07964	CAG		PASS	0.692	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	12	6	12	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46832148	46832148	+	Missense_Mutation	SNP	T	T	C	rs75709433		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:46832148T>C	ENST00000262738.3	-	4	4444	c.4445A>G	c.(4444-4446)aAc>aGc	p.N1482S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1482	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.N1482S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAAGCGGCCGTTGTAGAGAAG	0.592																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4444-4446)AAC>AGC		cadherin EGF LAG seven-pass G-type receptor 1							93.0	74.0	80.0					22																	46832148		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46832148T>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4445A>G	22.37:g.46832148T>C	ENSP00000262738:p.Asn1482Ser						p.N1482S	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	4	4445	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1482			Extracellular (Potential).|Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4445A>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527981	0.85706	.	.	ENSG00000075275	ENST00000262738	T	0.78003	-1.14	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.146062	0.42964	U	0.000636	D	0.82765	0.5108	L	0.51914	1.62	0.80722	D	1	P	0.50156	0.932	P	0.59546	0.859	D	0.84571	0.0655	10	0.66056	D	0.02	.	14.217	0.65800	0.0:0.0:0.0:1.0	.	1482	Q9NYQ6	CELR1_HUMAN	S	1482	ENSP00000262738:N1482S	ENSP00000262738:N1482S	N	-	2	0	CELSR1	45210812	1.000000	0.71417	0.872000	0.34217	0.921000	0.55340	7.371000	0.79600	1.905000	0.55150	0.449000	0.29647	AAC		PASS	0.592	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		13	23	13	23	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1401640	1401640	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:1401640A>C	ENST00000381524.3	+	3	230	c.44A>C	c.(43-45)cAc>cCc	p.H15P	CSF2RA_ENST00000432318.2_Missense_Mutation_p.H15P|CSF2RA_ENST00000355432.3_Missense_Mutation_p.H15P|CSF2RA_ENST00000381500.1_Missense_Mutation_p.H15P|CSF2RA_ENST00000417535.2_Missense_Mutation_p.H15P|CSF2RA_ENST00000361536.3_Missense_Mutation_p.H15P|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.H15P|CSF2RA_ENST00000381509.3_Missense_Mutation_p.H15P|CSF2RA_ENST00000494969.2_Missense_Mutation_p.H15P|CSF2RA_ENST00000355805.2_Missense_Mutation_p.H15P			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	15					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.H15P(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGTTACCACACCCAGCATTC	0.522																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(43-45)CAC>CCC		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						273.0	278.0	276.0					X																	1401640		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1401640A>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.44A>C	X.37:g.1401640A>C	ENSP00000370935:p.His15Pro					CSF2RA_uc011mhb.1_Missense_Mutation_p.H15P|CSF2RA_uc004cpq.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpn.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpo.2_Missense_Mutation_p.H15P|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.H15P|CSF2RA_uc010ncv.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpr.2_Missense_Mutation_p.H15P	p.H15P	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			4	366	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	15					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.44A>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	1.535	-0.543431	0.04053	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.94613	-3.14;-3.14;-3.47;-3.14;0.8;1.75;-3.29;0.73;0.92;-2.99;-3.47	1.21	-2.42	0.06542	.	.	.	.	.	D	0.91526	0.7324	.	.	.	0.20403	N	0.9999	P;P;P;P;P;P	0.51240	0.782;0.943;0.871;0.871;0.62;0.676	B;P;B;B;B;B	0.52598	0.402;0.703;0.136;0.136;0.06;0.227	T	0.83025	-0.0165	8	0.31617	T	0.26	.	1.7644	0.02998	0.3817:0.3093:0.0:0.3091	.	15;15;15;15;15;15	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	P	15	ENSP00000370940:H15P;ENSP00000416437:H15P;ENSP00000354836:H15P;ENSP00000370935:H15P;ENSP00000410667:H15P;ENSP00000397452:H15P;ENSP00000370920:H15P;ENSP00000348058:H15P;ENSP00000347606:H15P;ENSP00000394227:H15P;ENSP00000370911:H15P	ENSP00000347606:H15P	H	+	2	0	CSF2RA	1361640	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.122000	0.10627	-0.438000	0.07232	0.287000	0.19450	CAC		PASS	0.522	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			33	199	33	199	---	---	---	---
AKAP17A	8227	broad.mit.edu	37	X	1712489	1712489	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:1712489C>A	ENST00000313871.3	+	2	330	c.134C>A	c.(133-135)tCc>tAc	p.S45Y	AKAP17A_ENST00000381261.3_Missense_Mutation_p.S45Y	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	45					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.S45Y(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCGGGGAAGTCCATCTCCAAC	0.592																																						uc004cqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)TCC>TAC		DNA segment on chromosome X and Y (unique) 155							141.0	121.0	128.0					X																	1712489		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712489C>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.134C>A	X.37:g.1712489C>A	ENSP00000324827:p.Ser45Tyr					SFRS17A_uc010ncx.1_Missense_Mutation_p.S45Y|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	p.S45Y	NM_005088	NP_005079	Q02040	AK17A_HUMAN			2	330	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	45					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.134C>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.397849	0.25205	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.35048	1.33;1.33	2.02	2.02	0.26589	.	0.177118	0.39834	U	0.001256	T	0.55130	0.1901	.	.	.	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	T	0.49615	-0.8921	9	0.87932	D	0	-22.1096	12.3922	0.55364	0.0:1.0:0.0:0.0	.	45;45	Q02040-3;Q02040	.;AK17A_HUMAN	Y	45	ENSP00000324827:S45Y;ENSP00000370660:S45Y	ENSP00000324827:S45Y	S	+	2	0	AKAP17A	1672489	1.000000	0.71417	0.160000	0.22671	0.426000	0.31534	2.941000	0.49011	0.780000	0.33566	0.100000	0.15512	TCC		PASS	0.592	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		26	74	26	74	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148818	34148818	+	Silent	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:34148818C>G	ENST00000346193.3	-	1	1629	c.1578G>C	c.(1576-1578)cgG>cgC	p.R526R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	526								p.R526R(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACTGGACGTCCGACGAGTCT	0.667																																						uc004ddg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1576-1578)CGG>CGC		hypothetical protein LOC158724							35.0	39.0	38.0					X																	34148818		2194	4294	6488	SO:0001819	synonymous_variant	158724							g.chrX:34148818C>G	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1578G>C	X.37:g.34148818C>G							p.R526R	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1611	-			526					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1578G>C	CCDS43926.1																																																																																				PASS	0.667	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		13	7	13	7	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149076	34149076	+	Silent	SNP	G	G	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:34149076G>A	ENST00000346193.3	-	1	1371	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	440								p.D440D(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATCCCATACGTCCTTCAGCG	0.557													g|||	1	0.000264901	0.0	0.0	3775	,	,		11816	0.0		0.001	False		,,,				2504	0.0					uc004ddg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1318-1320)GAC>GAT		hypothetical protein LOC158724							45.0	46.0	45.0					X																	34149076		2104	4229	6333	SO:0001819	synonymous_variant	158724							g.chrX:34149076G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1320C>T	X.37:g.34149076G>A							p.D440D	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1353	-			440					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1320C>T	CCDS43926.1																																																																																				PASS	0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		11	11	11	11	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50121135	50121135	+	RNA	SNP	T	T	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:50121135T>A	ENST00000376025.2	-	0	3131							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCTTGTATCTAATTTTGATA	0.493																																						uc010njr.1																			0				ovary(1)|kidney(1)	2						c.(3073-3075)AGA>TGA		diacylglycerol kinase kappa							117.0	109.0	111.0					X																	50121135		1907	4111	6018			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50121135T>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50121135T>A							p.R1025*	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			23	3133	-	Ovarian(276;0.236)		1025					B2RP91	Nonsense_Mutation	SNP	ENST00000376025.2	37	c.3073A>T																																																																																					PASS	0.493	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		10	34	10	34	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69626794	69626794	+	Nonsense_Mutation	SNP	G	G	T	rs191024322		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:69626794G>T	ENST00000374403.3	+	28	3206	c.3124G>T	c.(3124-3126)Gag>Tag	p.E1042*	KIF4A_ENST00000374388.3_Nonsense_Mutation_p.E1042*	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1042	Globular.|Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1042*(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CATGGACATCGAGGATCTAAA	0.378																																						uc004dyg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(3124-3126)GAG>TAG		kinesin family member 4							82.0	73.0	76.0					X																	69626794		2203	4300	6503	SO:0001587	stop_gained	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69626794G>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3124G>T	X.37:g.69626794G>T	ENSP00000363524:p.Glu1042*					KIF4A_uc010nkw.2_Nonsense_Mutation_p.E1042*	p.E1042*	NM_012310	NP_036442	O95239	KIF4A_HUMAN			28	3251	+			1042			Globular.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Nonsense_Mutation	SNP	ENST00000374403.3	37	c.3124G>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	39	7.852547	0.98525	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	.	.	.	5.07	4.21	0.49690	.	0.200869	0.34338	N	0.004041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3792	0.32461	0.1078:0.0:0.8922:0.0	.	.	.	.	X	1042;1042;344	.	.	E	+	1	0	KIF4A	69543519	0.987000	0.35691	0.913000	0.36048	0.935000	0.57460	2.152000	0.42272	1.246000	0.43901	0.600000	0.82982	GAG		PASS	0.378	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		4	41	4	41	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73067615	73067615	+	lincRNA	SNP	C	C	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:73067615C>T	ENST00000429829.1	-	0	4973					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTCTGGGTTTCCAGCATCCCT	0.363																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							49.0	49.0	49.0					X																	73067615		875	1990	2865			7503							g.chrX:73067615C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73067615C>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.4974G>A																																																																																					PASS	0.363	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		11	5	11	5	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91456402	91456403	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:91456402_91456403CC>AA	ENST00000373094.1	+	3	3907_3908	c.3062_3063CC>AA	c.(3061-3063)aCC>aAA	p.T1021K	PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T1021K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T1021K|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T1021K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T1021K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1021					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1021N(2)|p.T1021T(2)|p.T1021K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CGATCTTGCACCCCCATGAAAG	0.381																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	large_intestine(2)	2						c.(3061-3063)ACC>AAC|c.(3061-3063)ACC>ACA		protocadherin 11 X-linked isoform c																																				SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91456402C>A|g.chrX:91456403C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	Exception_encountered	X.37:g.91456402_91456403delinsAA	ENSP00000362186:p.Thr1021Lys					PCDH11X_uc004efl.1_Missense_Mutation_p.T1021N|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Missense_Mutation_p.T1021N|PCDH11X_uc004efm.1_Missense_Mutation_p.T1021N|PCDH11X_uc004efn.1_Missense_Mutation_p.T1021N|PCDH11X_uc004efl.1_Silent_p.T1021T|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Silent_p.T1021T|PCDH11X_uc004efm.1_Silent_p.T1021T|PCDH11X_uc004efn.1_Silent_p.T1021T	p.T1021N|p.T1021T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			3	3907|3908	+			1021			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation|Silent	SNP	ENST00000373094.1	37	c.3062C>A|c.3063C>A	CCDS14461.1																																																																																				PASS	0.381	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		11	11	11	11	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105149285	105149285	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:105149285C>G	ENST00000243300.9	+	10	1097	c.794C>G	c.(793-795)gCt>gGt	p.A265G	NRK_ENST00000428173.2_Missense_Mutation_p.A265G	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A265G(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCCTTGGAAGCTCTCTTCGTT	0.393										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(793-795)GCT>GGT		Nik related kinase							161.0	132.0	141.0					X																	105149285		1857	4077	5934	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105149285C>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.794C>G	X.37:g.105149285C>G	ENSP00000434830:p.Ala265Gly	HNSCC(51;0.14)				NRK_uc010npc.1_5'UTR	p.A265G	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			10	1097	+			265			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.794C>G		.	.	.	.	.	.	.	.	.	.	C	24.5	4.540397	0.85917	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.66099	-0.19;-0.19	5.83	5.83	0.93111	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	0.47455	D	0.000228	T	0.77425	0.4128	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79293	-0.1863	10	0.87932	D	0	.	16.2384	0.82393	0.0:1.0:0.0:0.0	.	265	Q7Z2Y5	NRK_HUMAN	G	265	ENSP00000434830:A265G;ENSP00000438378:A265G	ENSP00000434830:A265G	A	+	2	0	NRK	105035941	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.386000	0.66238	2.438000	0.82558	0.600000	0.82982	GCT		PASS	0.393	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		3	10	3	10	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117749584	117749584	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:117749584G>C	ENST00000276202.7	+	30	3265	c.3202G>C	c.(3202-3204)Gaa>Caa	p.E1068Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.E1068Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1068					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1068Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATACAAGTTTGAATTTCTGCA	0.343																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3202-3204)GAA>CAA		dedicator of cytokinesis 11							89.0	74.0	79.0					X																	117749584		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117749584G>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3202G>C	X.37:g.117749584G>C	ENSP00000276202:p.Glu1068Gln					DOCK11_uc004eqq.2_Missense_Mutation_p.E834Q	p.E1068Q	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			30	3265	+			1068					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3202G>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308697	0.81247	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.96716	-4.1;-4.1	5.5	5.5	0.81552	.	0.152135	0.56097	D	0.000021	D	0.98086	0.9369	M	0.82823	2.61	0.53688	D	0.999977	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	D	0.98470	1.0600	10	0.54805	T	0.06	-7.5375	18.6727	0.91517	0.0:0.0:1.0:0.0	.	1068;1068	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	1068	ENSP00000276204:E1068Q;ENSP00000276202:E1068Q	ENSP00000276202:E1068Q	E	+	1	0	DOCK11	117633612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.229000	0.78088	2.442000	0.82660	0.544000	0.68410	GAA		PASS	0.343	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		7	8	7	8	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117814528	117814528	+	Silent	SNP	A	A	G			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:117814528A>G	ENST00000276202.7	+	49	5607	c.5544A>G	c.(5542-5544)acA>acG	p.T1848T	DOCK11_ENST00000276204.6_Silent_p.T1848T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1848	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1848T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAGAACTCACAGAAAGGAAGA	0.348																																						uc004eqp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(5542-5544)ACA>ACG		dedicator of cytokinesis 11							102.0	109.0	107.0					X																	117814528		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117814528A>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5544A>G	X.37:g.117814528A>G						DOCK11_uc004eqq.2_Silent_p.T1627T	p.T1848T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			49	5607	+			1848			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.5544A>G	CCDS35373.1																																																																																				PASS	0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		66	33	66	33	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117959765	117959765	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:117959765G>T	ENST00000310164.2	+	4	1065	c.558G>T	c.(556-558)agG>agT	p.R186S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	186					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R186S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGCTGAGTAGGGACCTCCGAC	0.502																																						uc004equ.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(556-558)AGG>AGT		zinc finger, CCHC domain containing 12							67.0	67.0	67.0					X																	117959765		2203	4298	6501	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959765G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.558G>T	X.37:g.117959765G>T	ENSP00000308921:p.Arg186Ser						p.R186S	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1031	+			186					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.558G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	0.360	-0.939944	0.02322	.	.	ENSG00000174460	ENST00000310164	T	0.08807	3.05	2.99	-0.701	0.11269	.	0.857190	0.09739	N	0.762120	T	0.07458	0.0188	M	0.63843	1.955	0.20926	N	0.999822	B	0.22683	0.073	B	0.25291	0.059	T	0.47711	-0.9096	10	0.09843	T	0.71	-6.5999	2.3778	0.04346	0.3949:0.0:0.3744:0.2307	.	186	Q6PEW1	ZCH12_HUMAN	S	186	ENSP00000308921:R186S	ENSP00000308921:R186S	R	+	3	2	ZCCHC12	117843793	0.878000	0.30173	0.485000	0.27403	0.596000	0.36781	-0.149000	0.10204	-0.288000	0.09051	0.600000	0.82982	AGG		PASS	0.502	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		41	31	41	31	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128696704	128696704	+	Silent	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:128696704G>T	ENST00000371113.4	+	12	1350	c.1185G>T	c.(1183-1185)gcG>gcT	p.A395A	OCRL_ENST00000357121.5_Silent_p.A395A	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	395	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.A395A(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ACATTTGTGCGAGAATGAGTT	0.438																																						uc004euq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(1183-1185)GCG>GCT		phosphatidylinositol polyphosphate 5-phosphatase							158.0	134.0	142.0					X																	128696704		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696704G>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1185G>T	X.37:g.128696704G>T						OCRL_uc004eur.2_Silent_p.A395A	p.A395A	NM_000276	NP_000267	Q01968	OCRL_HUMAN			12	1350	+			395					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.1185G>T	CCDS35393.1																																																																																				PASS	0.438	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		4	51	4	51	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037237	148037237	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:148037237G>C	ENST00000370460.2	+	11	2141	c.1662G>C	c.(1660-1662)gaG>gaC	p.E554D	AFF2_ENST00000286437.5_Missense_Mutation_p.E195D|AFF2_ENST00000342251.3_Missense_Mutation_p.E521D|AFF2_ENST00000370457.5_Missense_Mutation_p.E521D	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	554					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.E554D(2)|p.E195D(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACCCATGGAGACTATTTCTC	0.463																																						uc004fcp.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(1660-1662)GAG>GAC		fragile X mental retardation 2							198.0	212.0	207.0					X																	148037237		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037237G>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1662G>C	X.37:g.148037237G>C	ENSP00000359489:p.Glu554Asp					AFF2_uc004fcq.2_Missense_Mutation_p.E544D|AFF2_uc004fcr.2_Missense_Mutation_p.E515D|AFF2_uc011mxb.1_Missense_Mutation_p.E519D|AFF2_uc004fcs.2_Missense_Mutation_p.E521D|AFF2_uc011mxc.1_Missense_Mutation_p.E195D	p.E554D	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2141	+	Acute lymphoblastic leukemia(192;6.56e-05)		554					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1662G>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856922	0.51376	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.42	4.55	0.56014	.	3.603530	0.00397	N	0.000058	T	0.77718	0.4172	M	0.66939	2.045	0.41241	D	0.986647	D;D;D;D;D;D	0.64830	0.994;0.993;0.993;0.993;0.993;0.994	D;P;P;P;P;D	0.64506	0.926;0.879;0.879;0.879;0.879;0.926	T	0.64433	-0.6409	10	0.39692	T	0.17	.	9.2453	0.37523	0.1647:0.0:0.8353:0.0	.	195;519;521;515;544;554	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	D	554;521;521;195	ENSP00000359489:E554D;ENSP00000359486:E521D;ENSP00000345459:E521D;ENSP00000286437:E195D	ENSP00000286437:E195D	E	+	3	2	AFF2	147844937	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	1.559000	0.36320	2.259000	0.74868	0.600000	0.82982	GAG		PASS	0.463	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		71	166	71	166	---	---	---	---
VAMP7	6845	broad.mit.edu	37	X	155149476	155149476	+	Splice_Site	SNP	G	G	T			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrX:155149476G>T	ENST00000286448.6	+	6	598		c.e6-1		VAMP7_ENST00000262640.6_Intron|VAMP7_ENST00000460621.1_Splice_Site|VAMP7_ENST00000479687.1_Splice_Site	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7						calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.?(1)		large_intestine(1)|lung(8)	9	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)					AATATTTTCAGATCTGGTAGC	0.303																																						uc004fnr.2																			1	Unknown(1)		lung(1)		0						c.e6-1		vesicle-associated membrane protein 7 isoform 1							116.0	123.0	120.0					X																	155149476		2203	4296	6499	SO:0001630	splice_region_variant	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155149476G>T	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.434-1G>T	X.37:g.155149476G>T						VAMP7_uc004fnt.2_Splice_Site_p.D104_splice|VAMP7_uc011naa.1_Splice_Site_p.D106_splice|VAMP7_uc011nab.1_Splice_Site_p.D44_splice|VAMP7_uc004fns.2_Intron|VAMP7_uc011nac.1_Splice_Site_p.D78_splice	p.D145_splice	NM_005638	NP_005629	P51809	VAMP7_HUMAN			6	608	+	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)							Q53GY7|Q7Z409|Q9H4A7	Splice_Site	SNP	ENST00000286448.6	37	c.434_splice	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724992	0.48833	.	.	ENSG00000124333	ENST00000286448;ENST00000460621	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3064	0.49338	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VAMP7	154802670	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	6.229000	0.72294	1.798000	0.52647	0.284000	0.19432	.		PASS	0.303	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638	Intron	13	41	13	41	---	---	---	---
RBMY1A1	5940	broad.mit.edu	37	Y	23702641	23702641	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chrY:23702641C>A	ENST00000382707.2	+	4	523	c.371C>A	c.(370-372)cCc>cAc	p.P124H	RBMY1A1_ENST00000439108.2_5'UTR|RBMY1A1_ENST00000303902.5_Missense_Mutation_p.P124H	NM_005058.2	NP_005049.1	P0DJD3	RBY1A_HUMAN	RNA binding motif protein, Y-linked, family 1, member A1	124					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.P124H(1)		lung(3)	3						GGGTGGCTTCCCTCACATGAA	0.433																																						uc004fuq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CCC>CAC		RNA binding motif protein, Y-linked, family 1,							41.0	79.0	71.0					Y																	23702641		501	1737	2238	SO:0001583	missense	5940				mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|RNA binding	g.chrY:23702641C>A		CCDS14796.1	Yq11.23	2013-02-12	2003-09-12		ENSG00000234414	ENSG00000234414		"""RNA binding motif (RRM) containing"""	9912	protein-coding gene	gene with protein product		400006	"""RNA binding motif protein, Y chromosome, family 1, member A1"""	RBM1, RBM2		8269511, 9598316	Standard	XM_005262514		Approved	YRRM1, YRRM2		P0DJD3	OTTHUMG00000043592	ENST00000382707.2:c.371C>A	Y.37:g.23702641C>A	ENSP00000372154:p.Pro124His					RBMY1A1_uc010nxa.2_Missense_Mutation_p.P124H|RBMY1A1_uc004fur.3_Intron|RBMY1A1_uc011nbd.1_Missense_Mutation_p.P89H	p.P124H	NM_001006120	NP_001006120	Q15414	RBY1A_HUMAN			4	483	+			124					Q15376|Q15377|Q15414|Q6NSB5|Q86VU6|Q8NHR0	Missense_Mutation	SNP	ENST00000382707.2	37	c.371C>A	CCDS14796.1																																																																																				PASS	0.433	RBMY1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101933.2	NM_005058		6	83	6	83	---	---	---	---
OR6N2	81442	broad.mit.edu	37	1	158747277	158747277	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr1:158747277delC	ENST00000339258.1	-	1	148	c.149delG	c.(148-150)cgafs	p.R50fs		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGCATCCAGTCGGATGACTGA	0.478																																						uc010pir.1																			0					0						c.(148-150)CGAfs		olfactory receptor, family 6, subfamily N,							156.0	146.0	150.0					1																	158747277		2203	4300	6503	SO:0001589	frameshift_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747277delC	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.149delG	1.37:g.158747277delC	ENSP00000344101:p.Arg50fs						p.R50fs	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	149	-	all_hematologic(112;0.0378)		50			Cytoplasmic (Potential).		Q6IFR2	Frame_Shift_Del	DEL	ENST00000339258.1	37	c.149delG	CCDS30906.1																																																																																					0.478	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			132	69	132	69	---	---	---	---
ANKRD36C	400986	broad.mit.edu	37	2	96525717	96525718	+	Frame_Shift_Ins	INS	-	-	T	rs368489323|rs111957693|rs77057279		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr2:96525717_96525718insT	ENST00000456556.1	-	61	3871_3872	c.3787_3788insA	c.(3787-3789)ctgfs	p.L1263fs	ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.L514fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.L290fs			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1263							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CTTATTTTTCAGTTTTCGAATT	0.282																																						uc002sva.1																			0													Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly  similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.																																				SO:0001589	frameshift_variant	0							g.chr2:96525717_96525718insT	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3787_3788insA	2.37:g.96525717_96525718insT	ENSP00000403302:p.Leu1263fs					uc002suz.1_Frame_Shift_Ins_p.L290fs|uc002svb.1_Frame_Shift_Ins_p.L290fs								41		-								C9JZ08|Q15694|Q53S06|Q658V2	RNA	INS	ENST00000456556.1	37	c.2149_2150insA																																																																																						0.282	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	4	3	4	---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52831910	52831910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr3:52831910delG	ENST00000449956.2	+	6	633	c.627delG	c.(625-627)ctgfs	p.L209fs	ITIH3_ENST00000416872.2_Frame_Shift_Del_p.L209fs	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	209					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACGACCTCCTGGGAAGCGCCC	0.527																																						uc003dfv.2																			0				ovary(2)|liver(1)	3						c.(625-627)CTGfs		inter-alpha (globulin) inhibitor H3							64.0	65.0	65.0					3																	52831910		2047	4218	6265	SO:0001589	frameshift_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52831910delG		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.627delG	3.37:g.52831910delG	ENSP00000415769:p.Leu209fs					ITIH3_uc011bek.1_Frame_Shift_Del_p.L209fs	p.L209fs	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	6	663	+			209					Q3B7H5|Q53F06|Q6LAM2|Q99085	Frame_Shift_Del	DEL	ENST00000449956.2	37	c.627delG	CCDS46845.1																																																																																					0.527	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		11	11	11	11	---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8271798	8271799	+	Frame_Shift_Del	DEL	CC	CC	-	rs528115462		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr4:8271798_8271799delCC	ENST00000307358.2	+	1	307_308	c.103_104delCC	c.(103-105)cccfs	p.P35fs	HTRA3_ENST00000382512.3_Frame_Shift_Del_p.P35fs	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	35	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GTCGCGGTGTCCCAGCCCCCGC	0.787																																						uc003gla.2																			0				ovary(1)	1						c.(103-105)CCCfs		HtrA serine peptidase 3 precursor																																				SO:0001589	frameshift_variant	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8271798_8271799delCC	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.103_104delCC	4.37:g.8271798_8271799delCC	ENSP00000303766:p.Pro35fs					HTRA3_uc003gkz.2_Frame_Shift_Del_p.P35fs	p.P35fs	NM_053044	NP_444272	P83110	HTRA3_HUMAN			1	307_308	+			35			IGFBP N-terminal.		Q7Z7A2	Frame_Shift_Del	DEL	ENST00000307358.2	37	c.103_104delCC	CCDS3400.1																																																																																					0.787	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		4	2	4	2	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79983004	79983004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr9:79983004delT	ENST00000360280.3	+	62	8765	c.8505delT	c.(8503-8505)catfs	p.H2835fs	VPS13A_ENST00000376636.3_Frame_Shift_Del_p.H2796fs|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.H2835fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.H2835fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2835					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCAGTTCCATACAACATCCG	0.323																																						uc004akr.2																			0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(8503-8505)CATfs		vacuolar protein sorting 13A isoform A							78.0	72.0	74.0					9																	79983004		2202	4299	6501	SO:0001589	frameshift_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79983004delT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8505delT	9.37:g.79983004delT	ENSP00000353422:p.His2835fs					VPS13A_uc004akp.3_Frame_Shift_Del_p.H2835fs|VPS13A_uc004akq.3_Frame_Shift_Del_p.H2835fs|VPS13A_uc004aks.2_Frame_Shift_Del_p.H2796fs	p.H2835fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			62	8765	+			2835					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	c.8505delT	CCDS6655.1																																																																																					0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	2	4	2	---	---	---	---
TAS2R7	50837	broad.mit.edu	37	12	10954482	10954482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr12:10954482delG	ENST00000240687.2	-	1	744	c.688delC	c.(688-690)catfs	p.H230fs		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	230					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GCTCTCACATGGGCTTCTGTG	0.507																																						uc001qyv.2																			0				skin(1)	1						c.(688-690)CATfs		taste receptor, type 2, member 7							82.0	87.0	85.0					12																	10954482		2203	4300	6503	SO:0001589	frameshift_variant	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954482delG	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.688delC	12.37:g.10954482delG	ENSP00000240687:p.His230fs						p.H230fs	NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN			1	745	-			230			Cytoplasmic (Potential).		Q645Y1	Frame_Shift_Del	DEL	ENST00000240687.2	37	c.688delC	CCDS8631.1																																																																																					0.507	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			19	9	19	9	---	---	---	---
LOC283585	283585	broad.mit.edu	37	14	87372333	87372334	+	5'UTR	INS	-	-	CT	rs397947311|rs10666183|rs35340591	byFrequency	TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr14:87372333_87372334insCT	ENST00000557527.1	+	0	212_213																											cacgctgtcacctcGTCTCTAC	0.545														1419	0.283347	0.1982	0.3775	5008	,	,		15337	0.2629		0.3966	False		,,,				2504	0.2362					uc001xvs.2																			0													Homo sapiens cDNA clone IMAGE:4821442.																																				SO:0001623	5_prime_UTR_variant	0							g.chr14:87372333_87372334insCT																												ENST00000557527.1:c.-107->CT	14.37:g.87372334_87372335dupCT														1		+									RNA	INS	ENST00000557527.1	37	c.209_210insCT																																																																																						0.545	RP11-322L20.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413105.1			4	2	4	2	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56677004	56677004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr17:56677004delC	ENST00000240361.8	-	14	1805	c.1720delG	c.(1720-1722)gttfs	p.V574fs	TEX14_ENST00000349033.5_Frame_Shift_Del_p.V568fs|TEX14_ENST00000389934.3_Frame_Shift_Del_p.V568fs			Q8IWB6	TEX14_HUMAN	testis expressed 14	574					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAGAGTGAACCCTTGGTGAA	0.463																																						uc010dcz.1																			0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(1720-1722)GTTfs		testis expressed sequence 14 isoform a							41.0	43.0	42.0					17																	56677004		2193	4277	6470	SO:0001589	frameshift_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56677004delC	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1720delG	17.37:g.56677004delC	ENSP00000240361:p.Val574fs					TEX14_uc002iwr.1_Frame_Shift_Del_p.V568fs|TEX14_uc002iws.1_Frame_Shift_Del_p.V568fs|TEX14_uc010dda.1_Frame_Shift_Del_p.V348fs	p.V574fs	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			14	1838	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		574					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Frame_Shift_Del	DEL	ENST00000240361.8	37	c.1720delG	CCDS56042.1																																																																																					0.463	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			34	26	34	26	---	---	---	---
Unknown	0	broad.mit.edu	37	19	47141417	47141417	+	IGR	DEL	G	G	-			TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr19:47141417delG								GNG8 (3475 upstream) : DACT3 (9451 downstream)																							TCCCACATACGGTCTCTCAAT	0.547																																						uc002pez.1																			0													Homo sapiens cDNA FLJ10148 fis, clone HEMBA1003370.																																				SO:0001628	intergenic_variant	0							g.chr19:47141417delG																													19.37:g.47141417delG														1		-									RNA	DEL		37	c.1002delC																																																																																				0		0.547									7	4	7	4	---	---	---	---
MFNG	4242	broad.mit.edu	37	22	37875441	37875441	+	Frame_Shift_Del	DEL	C	C	-	rs372219546		TCGA-18-3421-01A-01D-0983-08	TCGA-18-3421-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9f0e482e-e72d-4c57-b4f7-4580edabd390	b7b6806b-f8ad-480b-9309-522ca8dde2bf	g.chr22:37875441delC	ENST00000356998.3	-	4	726	c.503delG	c.(502-504)ggafs	p.G168fs	MFNG_ENST00000416983.3_Frame_Shift_Del_p.G154fs	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	168					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GCTGGGCCTTCCCACATAGAC	0.632																																						uc003ass.1																			0				lung(1)	1						c.(502-504)GGAfs		O-fucosylpeptide							71.0	67.0	68.0					22																	37875441		2203	4300	6503	SO:0001589	frameshift_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37875441delC	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.503delG	22.37:g.37875441delC	ENSP00000349490:p.Gly168fs					MFNG_uc011ani.1_Frame_Shift_Del_p.G46fs|MFNG_uc011anj.1_Frame_Shift_Del_p.G154fs|CARD10_uc003ast.1_RNA	p.G168fs	NM_002405	NP_002396	O00587	MFNG_HUMAN			4	673	-	Melanoma(58;0.0574)		168			Lumenal (Potential).		B4DLT6|O43730|Q504S9	Frame_Shift_Del	DEL	ENST00000356998.3	37	c.503delG	CCDS13947.1																																																																																					0.632	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		26	20	26	20	---	---	---	---
