#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
HIVEP3	59269	broad.mit.edu	37	1	42048314	42048314	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:42048314T>A	ENST00000372583.1	-	4	3040	c.2155A>T	c.(2155-2157)Aag>Tag	p.K719*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.K719*|HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.K719*|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.K719*	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	719	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K719*(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCAAGGCTCTTCTCTTTCCTC	0.537																																						uc001cgz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2155-2157)AAG>TAG		human immunodeficiency virus type I enhancer							112.0	95.0	101.0					1																	42048314		2203	4300	6503	SO:0001587	stop_gained	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048314T>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2155A>T	1.37:g.42048314T>A	ENSP00000361664:p.Lys719*					HIVEP3_uc001cha.3_Nonsense_Mutation_p.K719*|HIVEP3_uc001cgy.2_RNA	p.K719*	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3368	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	719			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	c.2155A>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	46	12.687503	0.99688	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9319	13.5753	0.61870	0.0:0.0:0.0:1.0	.	.	.	.	X	719	.	ENSP00000247584:K719X	K	-	1	0	HIVEP3	41820901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.734000	0.62043	1.885000	0.54596	0.454000	0.30748	AAG		PASS	0.537	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		53	42	53	42	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44019608	44019608	+	Silent	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:44019608C>G	ENST00000359947.4	+	5	715	c.375C>G	c.(373-375)ctC>ctG	p.L125L	PTPRF_ENST00000438120.1_Silent_p.L125L|PTPRF_ENST00000372413.3_Silent_p.L125L|PTPRF_ENST00000372414.3_Silent_p.L125L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	125					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L115L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTCAGTGCTCGAAGGTACGT	0.597																																						uc001cjr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(373-375)CTC>CTG		protein tyrosine phosphatase, receptor type, F							137.0	92.0	107.0					1																	44019608		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44019608C>G	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.375C>G	1.37:g.44019608C>G						PTPRF_uc001cjq.3_Silent_p.L125L|PTPRF_uc001cjs.2_Silent_p.L125L|PTPRF_uc001cjt.3_Silent_p.L125L	p.L125L	NM_002840	NP_002831	P10586	PTPRF_HUMAN			5	715	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	125			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.375C>G	CCDS489.2																																																																																				PASS	0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			14	36	14	36	---	---	---	---
TOE1	114034	broad.mit.edu	37	1	45805976	45805976	+	Splice_Site	SNP	G	G	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:45805976G>C	ENST00000372090.5	+	1	635	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	MUTYH_ENST00000372115.3_5'UTR|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372098.3_5'UTR|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000529984.1_5'UTR|TOE1_ENST00000539779.1_Splice_Site_p.G18R|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000528332.2_5'UTR|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372110.3_5'UTR|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000450313.1_5'UTR|MUTYH_ENST00000372104.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	18						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G18R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					AGCTTCCGACGGTGAGCGGCT	0.627																																						uc009vxq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(52-54)GGT>CGT		target of EGR1, member 1 (nuclear)							38.0	34.0	36.0					1																	45805976		2202	4299	6501	SO:0001630	splice_region_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45805976G>C		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.52+1G>C	1.37:g.45805976G>C						MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'UTR|MUTYH_uc001cnk.2_5'UTR|MUTYH_uc010oll.1_5'UTR|MUTYH_uc001cnm.2_5'UTR|MUTYH_uc001cnl.2_5'UTR|MUTYH_uc009vxp.2_5'UTR|MUTYH_uc001cnn.2_5'UTR|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.G18R|TOE1_uc010oln.1_Missense_Mutation_p.G18R|TOE1_uc001cnr.3_RNA	p.G18R	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			1	635	+	Acute lymphoblastic leukemia(166;0.155)		18					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.52G>C	CCDS521.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353764	0.41700	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.35789	1.47;1.29	5.01	3.15	0.36227	.	1.407250	0.04282	N	0.343983	T	0.25865	0.0630	N	0.24115	0.695	0.80722	D	1	B;B;P	0.38167	0.175;0.326;0.621	B;B;B	0.34652	0.123;0.079;0.187	T	0.13019	-1.0525	10	0.72032	D	0.01	0.0465	4.84	0.13485	0.1747:0.0:0.6564:0.169	.	18;18;18	B4DP23;B4DEM6;Q96GM8	.;.;TOE1_HUMAN	R	18	ENSP00000361162:G18R;ENSP00000438900:G18R	ENSP00000361162:G18R	G	+	1	0	TOE1	45578563	1.000000	0.71417	0.968000	0.41197	0.292000	0.27327	1.728000	0.38105	0.829000	0.34733	0.655000	0.94253	GGT;GGA		PASS	0.627	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077	Missense_Mutation	10	15	10	15	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89658722	89658722	+	Missense_Mutation	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:89658722C>G	ENST00000355754.6	-	5	632	c.535G>C	c.(535-537)Gag>Cag	p.E179Q		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	179	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E179Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGGAGTCCTCAGCTTCATCA	0.483																																						uc001dnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GAG>CAG		guanylate binding protein 4							134.0	125.0	128.0					1																	89658722		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89658722C>G	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.535G>C	1.37:g.89658722C>G	ENSP00000359490:p.Glu179Gln						p.E179Q	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	5	651	-			179					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.535G>C	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779385	0.31502	.	.	ENSG00000162654	ENST00000355754	T	0.75154	-0.91	4.92	0.34	0.15985	Guanylate-binding protein, N-terminal (1);	1.094130	0.06952	N	0.814757	T	0.49575	0.1565	M	0.64170	1.965	0.09310	N	1	B	0.23442	0.085	B	0.23275	0.045	T	0.44892	-0.9298	10	0.42905	T	0.14	.	5.4934	0.16789	0.0:0.5008:0.292:0.2071	.	179	Q96PP9	GBP4_HUMAN	Q	179	ENSP00000359490:E179Q	ENSP00000359490:E179Q	E	-	1	0	GBP4	89431310	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.122000	0.15687	-0.024000	0.13941	0.650000	0.86243	GAG		PASS	0.483	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		5	140	5	140	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89658731	89658731	+	Missense_Mutation	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:89658731C>G	ENST00000355754.6	-	5	623	c.526G>C	c.(526-528)Gat>Cat	p.D176H		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	176	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D176H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCAGCTTCATCAGGTCTGGGG	0.478																																						uc001dnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)GAT>CAT		guanylate binding protein 4							130.0	122.0	124.0					1																	89658731		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89658731C>G	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.526G>C	1.37:g.89658731C>G	ENSP00000359490:p.Asp176His						p.D176H	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	5	642	-			176					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.526G>C	CCDS721.1	.	.	.	.	.	.	.	.	.	.	c	9.339	1.062562	0.19987	.	.	ENSG00000162654	ENST00000355754	T	0.75050	-0.9	4.92	3.06	0.35304	Guanylate-binding protein, N-terminal (1);	0.644741	0.15769	N	0.245544	T	0.51210	0.1661	L	0.49778	1.585	0.09310	N	1	B	0.24092	0.097	B	0.30105	0.111	T	0.48937	-0.8990	10	0.39692	T	0.17	.	9.5557	0.39337	0.0:0.8275:0.0:0.1725	.	176	Q96PP9	GBP4_HUMAN	H	176	ENSP00000359490:D176H	ENSP00000359490:D176H	D	-	1	0	GBP4	89431319	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.246000	0.08878	0.798000	0.33994	-0.127000	0.14921	GAT		PASS	0.478	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		4	142	4	142	---	---	---	---
AKNAD1	254268	broad.mit.edu	37	1	109394998	109394998	+	Missense_Mutation	SNP	T	T	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:109394998T>A	ENST00000370001.3	-	2	557	c.289A>T	c.(289-291)Att>Ttt	p.I97F	AKNAD1_ENST00000369994.1_Missense_Mutation_p.I97F|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.I97F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	97						cytoplasm (GO:0005737)		p.I97F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGCTGGAATATGAAGAGCT	0.393																																						uc001dwa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(289-291)ATT>TTT		hypothetical protein LOC254268							113.0	110.0	111.0					1																	109394998		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109394998T>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.289A>T	1.37:g.109394998T>A	ENSP00000359018:p.Ile97Phe					AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	p.I97F	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			2	558	-			97					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.289A>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219151	0.58560	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.12672	2.69;2.75;2.66	5.77	-0.969	0.10310	.	0.430418	0.21752	N	0.069656	T	0.05044	0.0135	M	0.67953	2.075	0.09310	N	1	P	0.51933	0.949	B	0.44085	0.44	T	0.21690	-1.0238	10	0.66056	D	0.02	-0.1183	1.235	0.01951	0.1235:0.2232:0.2553:0.398	.	97	Q5T1N1	AKND1_HUMAN	F	97	ENSP00000359018:I97F;ENSP00000359011:I97F;ENSP00000359012:I97F	ENSP00000359011:I97F	I	-	1	0	AKNAD1	109196521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.270000	0.18607	-0.416000	0.07473	0.533000	0.62120	ATT		PASS	0.393	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		73	86	73	86	---	---	---	---
CSF1	1435	broad.mit.edu	37	1	110466216	110466216	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:110466216C>T	ENST00000329608.6	+	6	1364	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	CSF1_ENST00000369801.1_Missense_Mutation_p.P325S|CSF1_ENST00000344188.5_Missense_Mutation_p.P325S|CSF1_ENST00000369802.3_Missense_Mutation_p.P325S|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	325					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.P325S(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAGCTTTCCCCCTCCAGGCC	0.582											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)CCC>TCC		colony stimulating factor 1 isoform a precursor							46.0	48.0	48.0					1																	110466216		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466216C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.973C>T	1.37:g.110466216C>T	ENSP00000327513:p.Pro325Ser		OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427	CSF1_uc001dyt.2_Missense_Mutation_p.P325S|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.P325S	p.P325S	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1386	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	325			Lumenal (Potential).		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.973C>T	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731709	0.30684	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000369801	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	4.0	-4.62	0.03370	.	1.186530	0.06337	N	0.707254	T	0.02012	0.0063	L	0.29908	0.895	0.09310	N	1	B;B	0.21071	0.051;0.041	B;B	0.17722	0.019;0.011	T	0.44877	-0.9299	10	0.16896	T	0.51	.	3.6823	0.08314	0.272:0.3602:0.0:0.3678	.	325;325	P09603;P09603-2	CSF1_HUMAN;.	S	325;325;284;325;325	ENSP00000342718:P325S;ENSP00000327513:P325S;ENSP00000433837:P284S;ENSP00000358817:P325S;ENSP00000358816:P325S	ENSP00000327513:P325S	P	+	1	0	CSF1	110267739	0.000000	0.05858	0.013000	0.15412	0.355000	0.29361	-0.879000	0.04188	-0.639000	0.05502	0.313000	0.20887	CCC		PASS	0.582	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		8	109	8	109	---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116940528	116940528	+	Silent	SNP	A	A	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:116940528A>T	ENST00000295598.5	+	15	2244	c.1992A>T	c.(1990-1992)gtA>gtT	p.V664V	ATP1A1_ENST00000369496.4_Silent_p.V633V|ATP1A1_ENST00000537345.1_Silent_p.V664V	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	664					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.V664V(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGGCCTGCGTAGTACACGGCA	0.468																																						uc001ege.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1990-1992)GTA>GTT		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						135.0	119.0	124.0					1																	116940528		2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116940528A>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1992A>T	1.37:g.116940528A>T						ATP1A1_uc010owv.1_Silent_p.V633V|ATP1A1_uc010oww.1_Silent_p.V664V|ATP1A1_uc010owx.1_Silent_p.V633V|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	p.V664V	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	15	2331	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	664			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.1992A>T	CCDS887.1																																																																																				PASS	0.468	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		83	81	83	81	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152129183	152129183	+	Missense_Mutation	SNP	T	T	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:152129183T>A	ENST00000316073.3	-	3	456	c.392A>T	c.(391-393)aAc>aTc	p.N131I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	131	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.N131I(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGGTGGGAGTTCTGCCTTTC	0.527																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)AAC>ATC		repetin							548.0	453.0	482.0					1																	152129183		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129183T>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.392A>T	1.37:g.152129183T>A	ENSP00000317895:p.Asn131Ile						p.N131I	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	457	-			131			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.392A>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300870	0.81136	.	.	ENSG00000215853	ENST00000316073	T	0.12147	2.71	5.08	5.08	0.68730	.	.	.	.	.	T	0.05318	0.0141	L	0.39898	1.24	0.26840	N	0.968386	P	0.51653	0.947	B	0.38327	0.271	T	0.15407	-1.0438	9	0.52906	T	0.07	-1.4116	12.7912	0.57534	0.0:0.0:0.0:1.0	.	131	Q6XPR3	RPTN_HUMAN	I	131	ENSP00000317895:N131I	ENSP00000317895:N131I	N	-	2	0	RPTN	150395807	0.330000	0.24705	0.171000	0.22900	0.446000	0.32137	1.161000	0.31773	1.905000	0.55150	0.443000	0.29094	AAC		PASS	0.527	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		66	499	66	499	---	---	---	---
CCDC181	57821	broad.mit.edu	37	1	169366527	169366527	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:169366527C>T	ENST00000367806.3	-	5	1470	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	CCDC181_ENST00000545005.1_Missense_Mutation_p.E439K|CCDC181_ENST00000367805.3_Missense_Mutation_p.E439K	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	440						nucleus (GO:0005634)		p.E439K(1)									AATAAACATTCCTCTTGCTTT	0.418																																						uc001gga.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)GAA>AAA		hypothetical protein LOC57821							160.0	137.0	144.0					1																	169366527		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169366527C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1318G>A	1.37:g.169366527C>T	ENSP00000356780:p.Glu440Lys					C1orf114_uc001gfz.1_Missense_Mutation_p.E439K|C1orf114_uc009wvq.1_Missense_Mutation_p.E439K	p.E440K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			5	1486	-	all_hematologic(923;0.208)		440					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1318G>A		.	.	.	.	.	.	.	.	.	.	C	28.0	4.885117	0.91814	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	T;T;T	0.26373	1.74;1.74;1.74	5.76	5.76	0.90799	.	0.097538	0.64402	D	0.000002	T	0.43500	0.1250	M	0.73598	2.24	0.32720	N	0.510506	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.11792	-1.0573	9	0.42905	T	0.14	-20.821	18.1155	0.89553	0.0:1.0:0.0:0.0	.	440;439	Q5TID7;Q5TID7-3	CA114_HUMAN;.	K	439;440;439	ENSP00000356779:E439K;ENSP00000356780:E440K;ENSP00000442297:E439K	ENSP00000356779:E439K	E	-	1	0	C1orf114	167633151	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.781000	0.47750	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.418	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		23	88	23	88	---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205814506	205814506	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:205814506G>A	ENST00000367136.4	-	3	480	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	146					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.R146C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ATGCCATCACGCTCCAACCCA	0.572																																						uc001hdj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(436-438)CGT>TGT		peptidase M20 domain containing 1 precursor							102.0	97.0	99.0					1																	205814506		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205814506G>A		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.436C>T	1.37:g.205814506G>A	ENSP00000356104:p.Arg146Cys					PM20D1_uc009xbr.2_RNA	p.R146C	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		3	481	-	Breast(84;0.201)		146					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.436C>T	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270267	0.40194	.	.	ENSG00000162877	ENST00000367136	T	0.09445	2.98	6.04	3.16	0.36331	.	0.449113	0.26609	N	0.023424	T	0.27384	0.0672	M	0.80422	2.495	0.41407	D	0.987716	D	0.61697	0.99	P	0.61658	0.892	T	0.01090	-1.1455	10	0.56958	D	0.05	.	7.9224	0.29854	0.0642:0.1193:0.6923:0.1241	.	146	Q6GTS8	P20D1_HUMAN	C	146	ENSP00000356104:R146C	ENSP00000356104:R146C	R	-	1	0	PM20D1	204081129	0.950000	0.32346	0.225000	0.23894	0.001000	0.01503	3.598000	0.54038	0.439000	0.26476	-0.304000	0.09214	CGT		PASS	0.572	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		67	149	67	149	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206619426	206619426	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:206619426C>T	ENST00000414007.1	+	14	1460	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	627	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.S487L(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCAGTTTATCACAGTTCAGT	0.547																																						uc001hdy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1618-1620)TCA>TTA		SLIT-ROBO Rho GTPase activating protein 2							47.0	49.0	48.0					1																	206619426		2129	4265	6394	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206619426C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1460C>T	1.37:g.206619426C>T	ENSP00000390898:p.Ser487Leu					SRGAP2_uc010prt.1_Missense_Mutation_p.S463L|SRGAP2_uc001hdx.2_Missense_Mutation_p.S540L|SRGAP2_uc010pru.1_Missense_Mutation_p.S463L|SRGAP2_uc010prv.1_Missense_Mutation_p.S464L	p.S540L	NM_015326	NP_056141	O75044	FNBP2_HUMAN			15	1952	+	Breast(84;0.137)		627			Rho-GAP.			Missense_Mutation	SNP	ENST00000414007.1	37	c.1619C>T		.	.	.	.	.	.	.	.	.	.	C	23.6	4.430794	0.83776	.	.	ENSG00000163486	ENST00000414359;ENST00000414007;ENST00000439126	T;T	0.20598	2.06;2.06	5.76	5.76	0.90799	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	.	.	.	0.80722	D	1.000000	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.995	T	0.50816	-0.8783	8	0.62326	D	0.03	.	19.9567	0.97222	0.0:1.0:0.0:0.0	.	474;627	B4DDU0;O75044	.;FNBP2_HUMAN	L	540;487;241	ENSP00000390898:S487L;ENSP00000403036:S241L	ENSP00000390898:S487L	S	+	2	0	SRGAP2	204686049	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	7.814000	0.86154	2.710000	0.92621	0.655000	0.94253	TCA		PASS	0.547	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		23	75	23	75	---	---	---	---
RD3	343035	broad.mit.edu	37	1	211654707	211654707	+	Silent	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:211654707G>A	ENST00000367002.4	-	2	1214	c.51C>T	c.(49-51)tcC>tcT	p.S17S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	17					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)			p.S17S(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGCTCCTGGTGGACAGCCGGG	0.632																																						uc001him.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(49-51)TCC>TCT		retinal degeneration 3							51.0	50.0	50.0					1																	211654707		2203	4300	6503	SO:0001819	synonymous_variant	343035				response to stimulus|visual perception			g.chr1:211654707G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.51C>T	1.37:g.211654707G>A						RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron	p.S17S	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	2	1215	-			17					A8K595	Silent	SNP	ENST00000367002.4	37	c.51C>T	CCDS1498.1																																																																																				PASS	0.632	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		43	113	43	113	---	---	---	---
SMYD2	56950	broad.mit.edu	37	1	214454741	214454741	+	Silent	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:214454741G>T	ENST00000366957.5	+	1	166	c.144G>T	c.(142-144)cgG>cgT	p.R48R	SMYD2_ENST00000415093.2_Silent_p.R48R|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	48	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)	p.R48R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TCAACGAGCGGGGCAACCACT	0.746																																						uc010ptx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(142-144)CGG>CGT		SET and MYND domain containing 2							15.0	14.0	14.0					1																	214454741		2197	4287	6484	SO:0001819	synonymous_variant	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214454741G>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.144G>T	1.37:g.214454741G>T						SMYD2_uc009xdj.2_5'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	p.R48R	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	1	177	+			48					B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Silent	SNP	ENST00000366957.5	37	c.144G>T	CCDS31022.1																																																																																				PASS	0.746	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		11	24	11	24	---	---	---	---
TLR5	7100	broad.mit.edu	37	1	223285747	223285747	+	Nonsense_Mutation	SNP	A	A	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:223285747A>C	ENST00000540964.1	-	4	1088	c.627T>G	c.(625-627)taT>taG	p.Y209*	TLR5_ENST00000342210.6_Nonsense_Mutation_p.Y209*			O60602	TLR5_HUMAN	toll-like receptor 5	209					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.Y209*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGACTCTGCTATACAAGCTAT	0.443																																						uc001hnv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(625-627)TAT>TAG		toll-like receptor 5 precursor							63.0	62.0	62.0					1																	223285747		2203	4300	6503	SO:0001587	stop_gained	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285747A>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.627T>G	1.37:g.223285747A>C	ENSP00000440643:p.Tyr209*					TLR5_uc001hnw.1_Nonsense_Mutation_p.Y209*	p.Y209*	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1073	-			209			Extracellular (Potential).		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Nonsense_Mutation	SNP	ENST00000540964.1	37	c.627T>G	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001523	0.54254	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	.	.	.	5.19	-0.789	0.10935	.	0.733633	0.13608	N	0.375347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1887	0.48673	0.547:0.0:0.453:0.0	.	.	.	.	X	209	.	ENSP00000340089:Y209X	Y	-	3	2	TLR5	221352370	0.019000	0.18553	0.013000	0.15412	0.000000	0.00434	0.401000	0.20948	-0.030000	0.13804	-1.151000	0.01829	TAT		PASS	0.443	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		15	150	15	150	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947700	237947700	+	Missense_Mutation	SNP	G	G	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:237947700G>C	ENST00000366574.2	+	90	13005	c.12688G>C	c.(12688-12690)Ggg>Cgg	p.G4230R	RYR2_ENST00000360064.6_Missense_Mutation_p.G4236R|RYR2_ENST00000542537.1_Missense_Mutation_p.G4214R|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4230					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.G4228R(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)			GGAAGAGCAGGGGCCGAGGAT	0.537																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12688-12690)GGG>CGG		cardiac muscle ryanodine receptor							58.0	66.0	63.0					1																	237947700		1981	4160	6141	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.chr1:237947700G>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.12688G>C	1.37:g.237947700G>C	ENSP00000355533:p.Gly4230Arg					RYR2_uc010pya.1_Missense_Mutation_p.G645R	p.G4230R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12808	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4230					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12688G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	6.908	0.537024	0.13188	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96856	-4.15;-4.15;-4.15	5.11	4.2	0.49525	.	0.615724	0.15192	N	0.275504	D	0.90369	0.6986	N	0.12746	0.255	0.80722	D	1	B;B	0.16603	0.018;0.01	B;B	0.18263	0.021;0.014	D	0.85567	0.1231	10	0.31617	T	0.26	.	9.9579	0.41678	0.1536:0.0:0.8464:0.0	.	1204;4230	B4DGV4;Q92736	.;RYR2_HUMAN	R	4230;4236;4214;1204	ENSP00000355533:G4230R;ENSP00000353174:G4236R;ENSP00000443798:G4214R	ENSP00000353174:G4236R	G	+	1	0	RYR2	236014323	1.000000	0.71417	0.992000	0.48379	0.526000	0.34562	2.826000	0.48104	1.384000	0.46424	0.655000	0.94253	GGG		PASS	0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	51	17	51	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370312	240370312	+	Silent	SNP	C	C	A	rs145706266	byFrequency	TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr1:240370312C>A	ENST00000319653.9	+	5	2430	c.2200C>A	c.(2200-2202)Cgg>Agg	p.R734R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	734					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R877R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAAGGAAGTACGGCATCATAG	0.562																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2200-2202)CGG>AGG		formin 2							62.0	61.0	61.0					1																	240370312		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370312C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2200C>A	1.37:g.240370312C>A						FMN2_uc010pye.1_Silent_p.R738R	p.R734R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2425	+	Ovarian(103;0.127)	all_cancers(173;0.013)	734					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2200C>A	CCDS31069.2																																																																																				PASS	0.562	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	92	6	92	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44161358	44161358	+	Missense_Mutation	SNP	T	T	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:44161358T>A	ENST00000260665.7	-	25	2764	c.2707A>T	c.(2707-2709)Aat>Tat	p.N903Y		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	903					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.N903Y(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTTTGTAATTTCCTGTTTGT	0.338																																						uc002rtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2707-2709)AAT>TAT		leucine-rich PPR motif-containing protein							85.0	82.0	83.0					2																	44161358		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44161358T>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2707A>T	2.37:g.44161358T>A	ENSP00000260665:p.Asn903Tyr					LRPPRC_uc010yob.1_Missense_Mutation_p.N803Y	p.N903Y	NM_133259	NP_573566	P42704	LPPRC_HUMAN			25	2765	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	903					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2707A>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515918	0.64634	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.55052	0.54	5.5	4.32	0.51571	Tetratricopeptide-like helical (1);	0.142657	0.50627	D	0.000115	T	0.64811	0.2632	L	0.57536	1.79	0.80722	D	1	D;P	0.69078	0.997;0.868	D;B	0.63597	0.916;0.24	T	0.63585	-0.6604	10	0.42905	T	0.14	-9.3648	12.5463	0.56201	0.0:0.0:0.1394:0.8606	.	803;903	F5H4J6;P42704	.;LPPRC_HUMAN	Y	803;903	ENSP00000260665:N903Y	ENSP00000260665:N903Y	N	-	1	0	LRPPRC	44014862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.080000	0.71299	0.896000	0.36366	0.402000	0.26972	AAT		PASS	0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		41	66	41	66	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50464081	50464081	+	Missense_Mutation	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:50464081C>G	ENST00000406316.2	-	18	4868	c.3392G>C	c.(3391-3393)gGt>gCt	p.G1131A	NRXN1_ENST00000405472.3_Missense_Mutation_p.G1123A|NRXN1_ENST00000342183.5_Missense_Mutation_p.G96A|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1123A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.G149A|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1131A|NRXN1_ENST00000404971.1_Missense_Mutation_p.G1171A|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1131A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1131	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G1171A(1)|p.G1172A(1)|p.G96A(1)|p.G1131A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGTCCACCACCTTTGCTAAA	0.428																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(286-288)GGT>GCT		neurexin 1 isoform beta precursor							109.0	102.0	104.0					2																	50464081		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50464081C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3392G>C	2.37:g.50464081C>G	ENSP00000384311:p.Gly1131Ala					NRXN1_uc002rxb.3_Missense_Mutation_p.G803A|NRXN1_uc010fbq.2_Missense_Mutation_p.G1171A|NRXN1_uc002rxe.3_Missense_Mutation_p.G1131A|NRXN1_uc002rxc.1_RNA	p.G96A	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1094	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	96			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.287G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244744	0.59103	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79749	1.05;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.371203	0.24229	U	0.040361	T	0.81479	0.4831	M	0.72576	2.205	0.30936	N	0.72633	P;B;P;B	0.46457	0.56;0.292;0.878;0.258	B;B;B;B	0.39805	0.31;0.116;0.28;0.044	D	0.84016	0.0351	10	0.66056	D	0.02	.	19.7969	0.96490	0.0:1.0:0.0:0.0	.	1171;96;1131;1123	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	A	96;50;149;1171;1131;1123;1131;1172;1123;1131	ENSP00000341184:G96A;ENSP00000385580:G149A;ENSP00000385142:G1171A;ENSP00000384311:G1131A;ENSP00000434015:G1123A;ENSP00000385017:G1131A;ENSP00000385434:G1123A;ENSP00000385681:G1131A	ENSP00000341184:G96A	G	-	2	0	NRXN1	50317585	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	2.558000	0.45879	2.679000	0.91253	0.650000	0.86243	GGT		PASS	0.428	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			11	170	11	170	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71886094	71886094	+	Silent	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:71886094C>G	ENST00000258104.3	+	43	5002	c.4725C>G	c.(4723-4725)ccC>ccG	p.P1575P	DYSF_ENST00000409651.1_Silent_p.P1607P|DYSF_ENST00000410041.1_Silent_p.P1593P|DYSF_ENST00000409744.1_Silent_p.P1583P|DYSF_ENST00000394120.2_Silent_p.P1576P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.P1614P|DYSF_ENST00000413539.2_Silent_p.P1606P|DYSF_ENST00000409582.3_Silent_p.P1613P|DYSF_ENST00000429174.2_Silent_p.P1596P|DYSF_ENST00000409762.1_Silent_p.P1592P|DYSF_ENST00000409366.1_Silent_p.P1597P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1575	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.P1575P(1)|p.P1614P(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAGGGACCCCAGGAGTGCT	0.572																																						uc002sie.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4723-4725)CCC>CCG		dysferlin isoform 8							85.0	91.0	89.0					2																	71886094		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71886094C>G	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4725C>G	2.37:g.71886094C>G						DYSF_uc010feg.2_Silent_p.P1606P|DYSF_uc010feh.2_Silent_p.P1582P|DYSF_uc002sig.3_Silent_p.P1561P|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.P1596P|DYSF_uc010fef.2_Silent_p.P1613P|DYSF_uc010fei.2_Silent_p.P1592P|DYSF_uc010fek.2_Silent_p.P1593P|DYSF_uc010fej.2_Silent_p.P1583P|DYSF_uc010fel.2_Silent_p.P1562P|DYSF_uc010feo.2_Silent_p.P1607P|DYSF_uc010fem.2_Silent_p.P1597P|DYSF_uc010fen.2_Silent_p.P1614P|DYSF_uc002sif.2_Silent_p.P1576P|DYSF_uc010yqy.1_Silent_p.P456P|DYSF_uc010yqz.1_Silent_p.P336P	p.P1575P	NM_003494	NP_003485	O75923	DYSF_HUMAN			43	5101	+			1575			Cytoplasmic (Potential).|C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4725C>G	CCDS1918.1																																																																																				PASS	0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		33	230	33	230	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746266	77746266	+	Silent	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:77746266G>A	ENST00000409093.1	-	3	1065	c.729C>T	c.(727-729)tcC>tcT	p.S243S	LRRTM4_ENST00000409884.1_Silent_p.S243S|LRRTM4_ENST00000409282.1_Silent_p.S244S|LRRTM4_ENST00000409911.1_Silent_p.S244S|LRRTM4_ENST00000409088.3_Silent_p.S243S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	243					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S243S(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTTGGCTAATGGAGCGAATCC	0.448																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(727-729)TCC>TCT		leucine rich repeat transmembrane neuronal 4							58.0	54.0	55.0					2																	77746266		1890	4099	5989	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746266G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.729C>T	2.37:g.77746266G>A						LRRTM4_uc002snq.2_Silent_p.S243S|LRRTM4_uc002sns.2_Silent_p.S243S|LRRTM4_uc002snt.2_Silent_p.S244S	p.S243S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1144	-			243			LRR 8.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.729C>T	CCDS46346.1																																																																																				PASS	0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		8	50	8	50	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125175047	125175047	+	Missense_Mutation	SNP	A	A	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:125175047A>C	ENST00000431078.1	+	4	773	c.409A>C	c.(409-411)Agc>Cgc	p.S137R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	137	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S137R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAATGCTGACAGCGTGGTGCA	0.483																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(409-411)AGC>CGC		contactin associated protein-like 5 precursor							88.0	89.0	89.0					2																	125175047		2004	4198	6202	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175047A>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.409A>C	2.37:g.125175047A>C	ENSP00000399013:p.Ser137Arg					CNTNAP5_uc010flu.2_Missense_Mutation_p.S137R	p.S137R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	773	+			137			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.409A>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946774	0.73672	.	.	ENSG00000155052	ENST00000431078	D	0.97505	-4.41	6.17	5.02	0.67125	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.099067	0.43110	D	0.000609	D	0.97068	0.9042	M	0.66378	2.025	0.34626	D	0.71911	D	0.55172	0.97	P	0.56514	0.8	D	0.99271	1.0893	10	0.62326	D	0.03	.	8.5833	0.33642	0.8525:0.0:0.1475:0.0	.	137	Q8WYK1	CNTP5_HUMAN	R	137	ENSP00000399013:S137R	ENSP00000399013:S137R	S	+	1	0	CNTNAP5	124891517	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.850000	0.48294	1.155000	0.42497	0.533000	0.62120	AGC		PASS	0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			8	58	8	58	---	---	---	---
TUBA3D	113457	broad.mit.edu	37	2	132238108	132238108	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:132238108C>T	ENST00000321253.6	+	4	949	c.842C>T	c.(841-843)gCc>gTc	p.A281V		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	281					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A281V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCTGAGAAGGCCTACCACGAG	0.582																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(841-843)GCC>GTC		tubulin, alpha 3d							77.0	116.0	103.0					2																	132238108		2184	4297	6481	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238108C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.842C>T	2.37:g.132238108C>T	ENSP00000326042:p.Ala281Val						p.A281V	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	949	+			281					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.842C>T	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	c	7.201	0.593544	0.13875	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.81996	-1.56	2.24	2.24	0.28232	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.45606	U	0.000346	D	0.82481	0.5046	M	0.80847	2.515	0.48395	D	0.999641	B	0.22146	0.065	B	0.28784	0.094	T	0.82653	-0.0351	10	0.87932	D	0	.	10.1507	0.42791	0.0:1.0:0.0:0.0	.	281	Q13748	TBA3C_HUMAN	V	281	ENSP00000326042:A281V	ENSP00000326042:A281V	A	+	2	0	TUBA3D	131954578	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	6.603000	0.74145	1.243000	0.43853	0.194000	0.17425	GCC		PASS	0.582	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		142	113	142	113	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141283440	141283440	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:141283440C>A	ENST00000389484.3	-	49	8970	c.7999G>T	c.(7999-8001)Gac>Tac	p.D2667Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2667	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.D2667Y(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)		TCTGAATAGTCTCCACAGTCA	0.413										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.(7999-8001)GAC>TAC		low density lipoprotein-related protein 1B							91.0	87.0	89.0					2																	141283440		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283440C>A	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.7999G>T	2.37:g.141283440C>A	ENSP00000374135:p.Asp2667Tyr	TSP Lung(27;0.18)					p.D2667Y	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)	49	8971	-		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)	2667			Extracellular (Potential).|LDL-receptor class A 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7999G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576431	0.86645	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97688	-4.49	4.94	4.94	0.65067	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98444	1.0588	10	0.72032	D	0.01	.	18.7133	0.91666	0.0:1.0:0.0:0.0	.	2667	Q9NZR2	LRP1B_HUMAN	Y	2667;2605	ENSP00000374135:D2667Y	ENSP00000374135:D2667Y	D	-	1	0	LRP1B	140999910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.535000	0.82014	2.724000	0.93272	0.650000	0.86243	GAC		PASS	0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		63	61	63	61	---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183104928	183104928	+	Silent	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:183104928G>T	ENST00000410103.1	-	4	390	c.307C>A	c.(307-309)Cgg>Agg	p.R103R	PDE1A_ENST00000346717.4_Silent_p.R69R|PDE1A_ENST00000351439.5_Silent_p.R87R|PDE1A_ENST00000409365.1_Silent_p.R87R|PDE1A_ENST00000456212.1_Silent_p.R103R|PDE1A_ENST00000331935.6_Silent_p.R103R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000435564.1_Silent_p.R103R|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000358139.2_Silent_p.R103R	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	103					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R103R(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCCATTTTCCGTGTAAAGGTA	0.423																																						uc002uos.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(307-309)CGG>AGG		phosphodiesterase 1A isoform 2							127.0	127.0	127.0					2																	183104928		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183104928G>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.307C>A	2.37:g.183104928G>T						PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.R103R|PDE1A_uc010zfq.1_Silent_p.R103R|PDE1A_uc002uor.2_Silent_p.R87R|PDE1A_uc002uou.2_Silent_p.R69R	p.R103R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		4	391	-			103					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.307C>A	CCDS33344.1																																																																																				PASS	0.423	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			117	207	117	207	---	---	---	---
FSIP2	401024	broad.mit.edu	37	2	186678704	186678704	+	Missense_Mutation	SNP	A	A	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:186678704A>T	ENST00000424728.1	+	18	20260	c.20260A>T	c.(20260-20262)Atg>Ttg	p.M6754L	FSIP2_ENST00000343098.5_Missense_Mutation_p.M6843L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6754								p.M1452L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAGCTTGACATGGCCACACC	0.438																																						uc002upm.2																			2	Substitution - Missense(2)		lung(2)										Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.							66.0	63.0	64.0					2																	186678704		1996	4157	6153	SO:0001583	missense	0							g.chr2:186678704A>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20260A>T	2.37:g.186678704A>T	ENSP00000401306:p.Met6754Leu					uc010zfu.1_Missense_Mutation_p.M1252L								2		+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	RNA	SNP	ENST00000424728.1	37	c.3342A>T		.	.	.	.	.	.	.	.	.	.	A	8.992	0.978071	0.18812	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.39592	1.07;1.08	5.13	-8.24	0.01029	.	0.573134	0.17246	N	0.181345	T	0.36358	0.0964	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.35574	-0.9783	8	0.20046	T	0.44	.	12.079	0.53659	0.2536:0.1268:0.6196:0.0	.	.	.	.	L	6843;6754	ENSP00000344403:M6843L;ENSP00000401306:M6754L	ENSP00000344403:M6843L	M	+	1	0	FSIP2	186386949	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.353000	0.20130	-1.456000	0.01921	-0.290000	0.09829	ATG		PASS	0.438	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		63	152	63	152	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206480528	206480528	+	Silent	SNP	A	A	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr2:206480528A>G	ENST00000406610.2	+	23	3816	c.3609A>G	c.(3607-3609)gcA>gcG	p.A1203A	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Silent_p.A1134A|PARD3B_ENST00000358768.2_Silent_p.A1141A|PARD3B_ENST00000349953.3_Silent_p.A1102A	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1203					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.A1142A(1)|p.A1134A(1)|p.A1141A(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCATGACTGCAGCCGTATAGC	0.587																																						uc002var.1																			3	Substitution - coding silent(3)		lung(3)	skin(2)|ovary(1)|breast(1)	4						c.(3607-3609)GCA>GCG		par-3 partitioning defective 3 homolog B isoform							48.0	53.0	51.0					2																	206480528		1943	4131	6074	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480528A>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3609A>G	2.37:g.206480528A>G						PARD3B_uc002vao.1_Silent_p.A1102A|PARD3B_uc002vap.1_Silent_p.A1141A|PARD3B_uc002vaq.1_Silent_p.A1134A|uc010fuc.1_5'Flank	p.A1203A	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3816	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1203					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.3609A>G																																																																																					PASS	0.587	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		66	67	66	67	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18436276	18436276	+	Missense_Mutation	SNP	G	G	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:18436276G>C	ENST00000338745.6	-	7	2618	c.884C>G	c.(883-885)tCt>tGt	p.S295C	SATB1_ENST00000475083.1_5'Flank|SATB1_ENST00000417717.2_Missense_Mutation_p.S295C|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.S295C	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	295					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S295F(1)|p.S295C(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGTCCGGACAGAGGGCTGGCT	0.582																																						uc003cbh.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|lung(1)	4						c.(883-885)TCT>TGT		special AT-rich sequence binding protein 1							104.0	94.0	97.0					3																	18436276		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18436276G>C		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.884C>G	3.37:g.18436276G>C	ENSP00000341024:p.Ser295Cys					SATB1_uc003cbi.2_Missense_Mutation_p.S295C|SATB1_uc003cbj.2_Missense_Mutation_p.S295C	p.S295C	NM_002971	NP_002962	Q01826	SATB1_HUMAN			7	2619	-			295					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.884C>G	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121429	0.56613	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.47177	0.85;0.85;0.85	5.75	5.75	0.90469	.	0.329474	0.34314	N	0.004074	T	0.25754	0.0627	N	0.01352	-0.895	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.15065	-1.0450	10	0.45353	T	0.12	-20.6018	19.9522	0.97203	0.0:0.0:1.0:0.0	.	295;295	Q01826-2;Q01826	.;SATB1_HUMAN	C	295	ENSP00000341024:S295C;ENSP00000399708:S295C;ENSP00000399518:S295C	ENSP00000341024:S295C	S	-	2	0	SATB1	18411280	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.515000	0.81761	2.725000	0.93324	0.655000	0.94253	TCT		PASS	0.582	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		43	50	43	50	---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38415993	38415993	+	Splice_Site	SNP	G	G	T	rs371569254		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:38415993G>T	ENST00000207870.3	+	11	978	c.888G>T	c.(886-888)gcG>gcT	p.A296A	XYLB_ENST00000542835.1_Splice_Site_p.A159A	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	296					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.A296A(2)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GTGACATTGCGGTAAGGCGAC	0.562																																						uc003cic.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(886-888)GCG>GCT		xylulokinase							164.0	140.0	148.0					3																	38415993		2203	4300	6503	SO:0001630	splice_region_variant	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38415993G>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.888+1G>T	3.37:g.38415993G>T						XYLB_uc011ayp.1_Silent_p.A159A|XYLB_uc003cid.1_Silent_p.A218A	p.A296A	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	11	997	+			296					B2RAW4|B4DDT2|B9EH64	Silent	SNP	ENST00000207870.3	37	c.888G>T	CCDS2678.1																																																																																				PASS	0.562	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	Silent	46	46	46	46	---	---	---	---
NT5DC2	64943	broad.mit.edu	37	3	52562310	52562310	+	Silent	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:52562310C>T	ENST00000307076.4	-	6	949	c.549G>A	c.(547-549)caG>caA	p.Q183Q	NT5DC2_ENST00000307092.4_Silent_p.Q124Q|NT5DC2_ENST00000459839.1_Silent_p.Q195Q|NT5DC2_ENST00000422318.2_Silent_p.Q220Q|NT5DC2_ENST00000490681.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	183							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q183Q(1)		endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGTCCATGAACTGCTTAATGG	0.572																																						uc003deo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(547-549)CAG>CAA		5'-nucleotidase domain containing 2 isoform 2							73.0	77.0	75.0					3																	52562310		2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52562310C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.549G>A	3.37:g.52562310C>T						NT5DC2_uc003dem.2_Silent_p.Q53Q|NT5DC2_uc003den.2_Silent_p.Q220Q|NT5DC2_uc010hmi.2_Silent_p.Q195Q|NT5DC2_uc010hmj.2_5'UTR	p.Q183Q	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	6	973	-			183					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.549G>A	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	2.340	-0.351425	0.05173	.	.	ENSG00000168268	ENST00000489316	.	.	.	4.65	2.79	0.32731	.	.	.	.	.	T	0.60038	0.2238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56739	-0.7929	4	.	.	.	-27.9689	10.7985	0.46474	0.0:0.7779:0.0:0.2221	.	.	.	.	I	105	.	.	V	-	1	0	NT5DC2	52537350	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.120000	0.31271	0.939000	0.37446	0.313000	0.20887	GTT		PASS	0.572	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		49	69	49	69	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65342499	65342499	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:65342499C>T	ENST00000402939.2	-	23	3942	c.3943G>A	c.(3943-3945)Gcc>Acc	p.A1315T	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1344					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.A1315T(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGGCCGTTGGCGGCTGCCGCG	0.697																																						uc003dmn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(3943-3945)GCC>ACC		membrane associated guanylate kinase, WW and PDZ							34.0	39.0	37.0					3																	65342499		2203	4294	6497	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342499C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3943G>A	3.37:g.65342499C>T	ENSP00000385450:p.Ala1315Thr					MAGI1_uc003dmm.2_3'UTR	p.A1315T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4469	-		Lung NSC(201;0.0016)	1344			Poly-Ala.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3943G>A	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	1.102	-0.660889	0.03454	.	.	ENSG00000151276	ENST00000402939	T	0.11495	2.77	4.99	-7.31	0.01441	.	.	.	.	.	T	0.02807	0.0084	N	0.01874	-0.695	0.21527	N	0.999658	B	0.02656	0.0	B	0.01281	0.0	T	0.47355	-0.9124	9	0.14252	T	0.57	0.8717	7.386	0.26882	0.0:0.3407:0.2944:0.3649	.	1315	Q96QZ7-2	.	T	1315	ENSP00000385450:A1315T	ENSP00000385450:A1315T	A	-	1	0	MAGI1	65317539	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.306000	0.02735	-1.324000	0.02272	-0.258000	0.10820	GCC		PASS	0.697	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		3	32	3	32	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65367554	65367554	+	Missense_Mutation	SNP	G	G	A	rs200362587		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:65367554G>A	ENST00000497477.2	-	16	2698	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	MAGI1_ENST00000402939.2_Missense_Mutation_p.A900V|MAGI1_ENST00000330909.8_Missense_Mutation_p.A928V|MAGI1_ENST00000483466.1_Missense_Mutation_p.A928V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	928					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.A900V(1)|p.A928V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATACATACCCGCAAAAACCAC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20574	0.0		0.001	False		,,,				2504	0.0					uc003dmn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(2698-2700)GCG>GTG		membrane associated guanylate kinase, WW and PDZ							113.0	97.0	103.0					3																	65367554		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65367554G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2699C>T	3.37:g.65367554G>A	ENSP00000424369:p.Ala900Val					MAGI1_uc003dmm.2_Missense_Mutation_p.A928V|MAGI1_uc003dmo.2_Missense_Mutation_p.A928V|MAGI1_uc003dmp.2_Missense_Mutation_p.A900V|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.A211V	p.A900V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	16	3225	-		Lung NSC(201;0.0016)	928					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2699C>T		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	15.87|15.87	2.960360|2.960360	0.53400|0.53400	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.19806|.	2.62;2.19;2.18;2.18;2.12;2.22|.	5.43|5.43	4.55|4.55	0.56014|0.56014	.|.	0.524608|.	0.21524|.	N|.	0.073163|.	T|T	0.47728|0.47728	0.1461|0.1461	N|N	0.14661|0.14661	0.345|0.345	0.37661|0.37661	D|D	0.922765|0.922765	B;B;P;B;P|.	0.43578|.	0.048;0.079;0.811;0.212;0.773|.	B;B;B;B;B|.	0.34138|.	0.012;0.016;0.176;0.064;0.176|.	T|T	0.49872|0.49872	-0.8893|-0.8893	10|5	0.30078|.	T|.	0.28|.	-0.6513|-0.6513	16.132|16.132	0.81446|0.81446	0.0:0.1339:0.8661:0.0|0.0:0.1339:0.8661:0.0	.|.	928;900;928;900;928|.	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	V|W	900;928;824;803;928;900;686|809	ENSP00000385450:A900V;ENSP00000331157:A928V;ENSP00000418177:A803V;ENSP00000420323:A928V;ENSP00000424369:A900V;ENSP00000420796:A686V|.	ENSP00000331157:A928V|.	A|R	-|-	2|1	0|2	MAGI1|MAGI1	65342594|65342594	1.000000|1.000000	0.71417|0.71417	0.781000|0.781000	0.31783|0.31783	0.979000|0.979000	0.70002|0.70002	4.606000|4.606000	0.61126|0.61126	1.257000|1.257000	0.44085|0.44085	0.655000|0.655000	0.94253|0.94253	GCG|CGG		PASS	0.473	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		11	52	11	52	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119120970	119120970	+	Silent	SNP	G	G	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:119120970G>C	ENST00000264245.4	+	10	1903	c.1371G>C	c.(1369-1371)tcG>tcC	p.S457S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	457					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.S457S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCTACACTTCGAACGACAGCC	0.592																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1369-1371)TCG>TCC		Cdc42 GTPase-activating protein							81.0	94.0	90.0					3																	119120970		2048	4183	6231	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119120970G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1371G>C	3.37:g.119120970G>C							p.S457S	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			10	1903	+			457					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.1371G>C	CCDS43135.1																																																																																				PASS	0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			64	129	64	129	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147114021	147114021	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:147114021G>T	ENST00000383075.3	-	3	818	c.306C>A	c.(304-306)aaC>aaA	p.N102K	ZIC4_ENST00000525172.2_Missense_Mutation_p.N152K|ZIC4_ENST00000425731.3_Missense_Mutation_p.N140K|ZIC4_ENST00000473123.1_Missense_Mutation_p.N102K|ZIC4_ENST00000484399.1_Missense_Mutation_p.N102K|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	102						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N102K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCACCGTCAGGTTCATGCCCC	0.697																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(304-306)AAC>AAA		zinc finger protein of the cerebellum 4							20.0	24.0	23.0					3																	147114021		2176	4281	6457	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114021G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.306C>A	3.37:g.147114021G>T	ENSP00000372553:p.Asn102Lys					ZIC4_uc003ewc.1_Missense_Mutation_p.N32K|ZIC4_uc011bno.1_Missense_Mutation_p.N152K	p.N102K	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	579	-			102					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.306C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118625	0.77323	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.98	4.98	0.66077	.	0.000000	0.50627	D	0.000119	T	0.63757	0.2538	M	0.80616	2.505	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.65233	0.933;0.901	T	0.69383	-0.5160	10	0.87932	D	0	.	13.5953	0.61987	0.0774:0.0:0.9226:0.0	.	152;102	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	K	102;140;152;102;102;102	ENSP00000372553:N102K;ENSP00000397695:N140K;ENSP00000435509:N152K;ENSP00000417855:N102K;ENSP00000420775:N102K;ENSP00000420627:N102K	ENSP00000372553:N102K	N	-	3	2	ZIC4	148596711	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.773000	0.55333	2.299000	0.77371	0.561000	0.74099	AAC		PASS	0.697	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			19	43	19	43	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170185011	170185011	+	Missense_Mutation	SNP	G	G	T	rs546487810		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr3:170185011G>T	ENST00000231706.5	-	8	2463	c.2148C>A	c.(2146-2148)agC>agA	p.S716R	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	716					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.S716R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGTCCTCCTGGCTCTCGCCCT	0.577																																						uc003fgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(2146-2148)AGC>AGA		solute carrier family 7 (cationic amino acid							72.0	72.0	72.0					3																	170185011		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170185011G>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2148C>A	3.37:g.170185011G>T	ENSP00000231706:p.Ser716Arg					CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank	p.S716R	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		8	2464	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		716					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.2148C>A	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795862	0.50208	.	.	ENSG00000013293	ENST00000231706	D	0.87256	-2.23	5.76	4.88	0.63580	.	0.382752	0.31358	N	0.007799	T	0.74283	0.3696	N	0.08118	0	0.43740	D	0.996232	B	0.02656	0.0	B	0.01281	0.0	T	0.67810	-0.5574	10	0.18710	T	0.47	.	14.564	0.68162	0.07:0.0:0.93:0.0	.	716	Q8TBB6	S7A14_HUMAN	R	716	ENSP00000231706:S716R	ENSP00000231706:S716R	S	-	3	2	SLC7A14	171667705	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.897000	0.48664	1.449000	0.47699	0.655000	0.94253	AGC		PASS	0.577	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		22	232	22	232	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	436622	436622	+	Missense_Mutation	SNP	T	T	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr4:436622T>C	ENST00000338977.5	-	2	1646	c.1598A>G	c.(1597-1599)tAt>tGt	p.Y533C	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.Y545C			Q8TF20	ZN721_HUMAN	zinc finger protein 721	533					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.Y545C(1)|p.Y315C(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCTATGTACATAAAGGATTGC	0.403																																						uc003gag.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1633-1635)TAT>TGT		zinc finger protein 721							89.0	97.0	94.0					4																	436622		2107	4259	6366	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436622T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1598A>G	4.37:g.436622T>C	ENSP00000340524:p.Tyr533Cys					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.Y577C|ZNF721_uc010ibe.2_Missense_Mutation_p.Y533C	p.Y545C	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2325	-			545					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1634A>G		.	.	.	.	.	.	.	.	.	.	T	13.72	2.321662	0.41096	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.54279	0.58;0.58	1.28	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49695	0.1572	N	0.25380	0.74	0.09310	N	1	D;D;D	0.76494	0.999;0.991;0.989	D;P;P	0.83275	0.996;0.907;0.85	T	0.39800	-0.9596	9	0.41790	T	0.15	.	2.2254	0.03982	0.2492:0.2128:0.0:0.538	.	533;545;545	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	C	533;545	ENSP00000340524:Y533C;ENSP00000428878:Y545C	ENSP00000340524:Y533C	Y	-	2	0	ZNF721	426622	0.000000	0.05858	0.000000	0.03702	0.741000	0.42261	-4.553000	0.00216	-0.252000	0.09528	0.155000	0.16302	TAT		PASS	0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		104	112	104	112	---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4304558	4304558	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr4:4304558G>A	ENST00000337872.4	+	3	1116	c.995G>A	c.(994-996)gGt>gAt	p.G332D	ZBTB49_ENST00000355834.3_Missense_Mutation_p.G332D|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	332					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.G332D(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCAGATGATGGTTTGACAAAG	0.418																																						uc003ghu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(994-996)GGT>GAT		zinc finger protein 509							64.0	63.0	63.0					4																	4304558		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304558G>A	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.995G>A	4.37:g.4304558G>A	ENSP00000338807:p.Gly332Asp					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.G32D	p.G332D	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			3	1170	+			332					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.995G>A	CCDS3375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.668|3.668	-0.068063|-0.068063	0.07228|0.07228	.|.	.|.	ENSG00000168826|ENSG00000168826	ENST00000355834;ENST00000337872|ENST00000504302	T;T|.	0.13420|.	2.59;2.88|.	5.33|5.33	-3.17|-3.17	0.05202|0.05202	.|.	1.027540|.	0.07708|.	N|.	0.941590|.	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.09377|.	0.004;0.003|.	T|T	0.27673|0.27673	-1.0067|-1.0067	10|5	0.10636|.	T|.	0.68|.	.|.	4.4726|4.4726	0.11720|0.11720	0.2109:0.4279:0.2721:0.0891|0.2109:0.4279:0.2721:0.0891	.|.	332;332|.	Q6ZSB9-2;Q6ZSB9|.	.;ZBT49_HUMAN|.	D|I	332|69	ENSP00000348091:G332D;ENSP00000338807:G332D|.	ENSP00000338807:G332D|.	G|V	+|+	2|1	0|0	ZBTB49|ZBTB49	4355459|4355459	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.049000|0.049000	0.14656|0.14656	-0.625000|-0.625000	0.05534|0.05534	-0.526000|-0.526000	0.06383|0.06383	-0.218000|-0.218000	0.12543|0.12543	GGT|GTT		PASS	0.418	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		45	46	45	46	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30724309	30724309	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr4:30724309G>A	ENST00000361762.2	+	1	2273	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	PCDH7_ENST00000543491.1_Missense_Mutation_p.R422H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	422					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R375H(1)|p.R422H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAGATTGGGCGCATCCCCCTC	0.627																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1264-1266)CGC>CAC		protocadherin 7 isoform a precursor							44.0	44.0	44.0					4																	30724309		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724309G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1265G>A	4.37:g.30724309G>A	ENSP00000355243:p.Arg422His					PCDH7_uc011bxw.1_Missense_Mutation_p.R375H|PCDH7_uc011bxx.1_Missense_Mutation_p.R422H	p.R422H	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2273	+			422			Extracellular (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1265G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008655	0.75046	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.53640	0.63;0.61	5.48	5.48	0.80851	Cadherin-like (1);	.	.	.	.	T	0.59500	0.2198	L	0.29908	0.895	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.962	T	0.61242	-0.7102	9	0.56958	D	0.05	.	19.3488	0.94376	0.0:0.0:1.0:0.0	.	422;375;422	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	H	422;422;375	ENSP00000355243:R422H;ENSP00000441802:R422H	ENSP00000330302:R375H	R	+	2	0	PCDH7	30333407	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.635000	0.83286	2.569000	0.86673	0.655000	0.94253	CGC		PASS	0.627	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		3	67	3	67	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183594205	183594205	+	Missense_Mutation	SNP	G	G	A	rs532172146		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr4:183594205G>A	ENST00000511685.1	+	7	1282	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	TENM3_ENST00000406950.2_Missense_Mutation_p.E387K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	387					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E387K(1)									AGATTCCGGAGAACTTGATAT	0.358																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)GAA>AAA		odz, odd Oz/ten-m homolog 3							37.0	35.0	36.0					4																	183594205		1807	4082	5889	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183594205G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1159G>A	4.37:g.183594205G>A	ENSP00000424226:p.Glu387Lys						p.E387K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	6	1196	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	387			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1159G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184897	0.78677	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.32988	1.43;1.43	5.04	5.04	0.67666	.	.	.	.	.	T	0.36303	0.0962	M	0.66297	2.02	0.51012	D	0.999908	B	0.29378	0.243	B	0.24541	0.054	T	0.31613	-0.9937	9	0.72032	D	0.01	.	19.0138	0.92886	0.0:0.0:1.0:0.0	.	387	Q9P273	TEN3_HUMAN	K	387	ENSP00000424226:E387K;ENSP00000385276:E387K	ENSP00000385276:E387K	E	+	1	0	ODZ3	183831199	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.114000	0.77103	2.789000	0.95967	0.650000	0.86243	GAA		PASS	0.358	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	16	5	16	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31305407	31305407	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr5:31305407G>T	ENST00000265071.2	+	7	1391	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	CDH6_ENST00000514738.1_Missense_Mutation_p.D321Y	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	376	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D376Y(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTGGTGGAGGATGTAGATGA	0.458																																						uc003jhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1126-1128)GAT>TAT		cadherin 6, type 2 preproprotein							88.0	86.0	87.0					5																	31305407		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31305407G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1126G>T	5.37:g.31305407G>T	ENSP00000265071:p.Asp376Tyr					CDH6_uc003jhd.1_Missense_Mutation_p.D376Y	p.D376Y	NM_004932	NP_004923	P55285	CADH6_HUMAN			7	1452	+			376			Cadherin 3.|Extracellular (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1126G>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899982	0.92035	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.69175	-0.38;-0.38	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90103	0.6908	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92740	0.6207	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	376;376	P55285;P55285-2	CADH6_HUMAN;.	Y	321;376	ENSP00000424843:D321Y;ENSP00000265071:D376Y	ENSP00000265071:D376Y	D	+	1	0	CDH6	31341164	1.000000	0.71417	0.914000	0.36105	0.980000	0.70556	9.431000	0.97494	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.458	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		50	132	50	132	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33549443	33549443	+	Missense_Mutation	SNP	A	A	T	rs200165680		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr5:33549443A>T	ENST00000504830.1	-	21	4506	c.4171T>A	c.(4171-4173)Tgc>Agc	p.C1391S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1306S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1391	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1391S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTCCACGCACTGAATCTCG	0.572										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4171-4173)TGC>AGC		ADAM metallopeptidase with thrombospondin type 1							87.0	96.0	93.0					5																	33549443		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549443A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4171T>A	5.37:g.33549443A>T	ENSP00000422554:p.Cys1391Ser	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.C1306S	p.C1391S	NM_030955	NP_112217	P58397	ATS12_HUMAN			21	4334	-			1391			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4171T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470191	0.84533	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.69040	-0.37;-0.37	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	H	0.96365	3.81	0.80722	D	1	D;D	0.76494	0.999;0.982	D;D	0.83275	0.996;0.952	D	0.90290	0.4322	10	0.87932	D	0	.	12.5076	0.55989	1.0:0.0:0.0:0.0	.	1306;1391	P58397-3;P58397	.;ATS12_HUMAN	S	1391;1306	ENSP00000422554:C1391S;ENSP00000344847:C1306S	ENSP00000344847:C1306S	C	-	1	0	ADAMTS12	33585200	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.600000	0.74132	1.942000	0.56320	0.528000	0.53228	TGC		PASS	0.572	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		41	202	41	202	---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80548572	80548572	+	Missense_Mutation	SNP	G	G	A	rs548849398		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr5:80548572G>A	ENST00000424301.2	+	4	449	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A71T|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.A71T|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	71	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.A71T(2)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCTCACCCCCGCCATTTATGC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19702	0.0		0.0	False		,,,				2504	0.0					uc003khc.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(211-213)GCC>ACC		sarcomeric mitochondrial creatine kinase	Creatine(DB00148)						110.0	94.0	100.0					5																	80548572		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80548572G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.211G>A	5.37:g.80548572G>A	ENSP00000404203:p.Ala71Thr					RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.A71T|CKMT2_uc003khd.3_Missense_Mutation_p.A71T|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	p.A71T	NM_001825	NP_001816	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	4	453	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	71			Phosphagen kinase N-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.211G>A	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892821	0.52121	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	6.04	-3.38	0.04883	ATP:guanido phosphotransferase, N-terminal (4);	0.348813	0.34435	N	0.003966	T	0.49457	0.1558	L	0.52364	1.645	0.31991	N	0.604641	B	0.18863	0.031	B	0.14023	0.01	T	0.29610	-1.0006	10	0.62326	D	0.03	-0.2323	9.9591	0.41686	0.074:0.0:0.3595:0.5666	.	71	P17540	KCRS_HUMAN	T	71	ENSP00000254035:A71T;ENSP00000423264:A71T;ENSP00000410289:A71T;ENSP00000404203:A71T;ENSP00000427635:A71T	ENSP00000254035:A71T	A	+	1	0	CKMT2	80584328	0.801000	0.28930	0.002000	0.10522	0.949000	0.60115	1.225000	0.32551	-1.158000	0.02811	0.561000	0.74099	GCC		PASS	0.612	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		53	51	53	51	---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80548574	80548574	+	Silent	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr5:80548574C>A	ENST00000424301.2	+	4	451	c.213C>A	c.(211-213)gcC>gcA	p.A71A	CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Silent_p.A71A|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Silent_p.A71A|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	71	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.A71A(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TCACCCCCGCCATTTATGCCA	0.612																																						uc003khc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)GCC>GCA		sarcomeric mitochondrial creatine kinase	Creatine(DB00148)						112.0	96.0	101.0					5																	80548574		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80548574C>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.213C>A	5.37:g.80548574C>A						RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Silent_p.A71A|CKMT2_uc003khd.3_Silent_p.A71A|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	p.A71A	NM_001825	NP_001816	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	4	455	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	71			Phosphagen kinase N-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.213C>A	CCDS4053.1																																																																																				PASS	0.612	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		51	54	51	54	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140710522	140710522	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr5:140710522G>A	ENST00000517417.1	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D91N|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	91	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.D91N(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGGATAGACCGGGAGGA	0.512																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(271-273)GAC>AAC		protocadherin gamma subfamily A, 1 isoform 1							110.0	123.0	118.0					5																	140710522		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710522G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.271G>A	5.37:g.140710522G>A	ENSP00000431083:p.Asp91Asn					PCDHGA1_uc011dan.1_Missense_Mutation_p.D91N	p.D91N	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	271	+			91			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.271G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801336	0.90538	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52295	0.67;0.67	4.37	4.37	0.52481	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000085	T	0.81607	0.4858	H	0.98769	4.325	0.40224	D	0.97777	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90094	0.4179	10	0.87932	D	0	.	17.0903	0.86620	0.0:0.0:1.0:0.0	.	91;91	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	N	91	ENSP00000431083:D91N;ENSP00000367345:D91N	ENSP00000367345:D91N	D	+	1	0	PCDHGA1	140690706	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.601000	0.98297	2.432000	0.82394	0.655000	0.94253	GAC		PASS	0.512	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		8	249	8	249	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153078581	153078581	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr5:153078581G>A	ENST00000285900.5	+	10	1743	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	GRIA1_ENST00000521843.2_Missense_Mutation_p.R398Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R467Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R387Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R477Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R477Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	467					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R467Q(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACGGAGCCCGAGACCCTGAC	0.562																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1399-1401)CGA>CAA		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						67.0	64.0	65.0					5																	153078581		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078581G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1400G>A	5.37:g.153078581G>A	ENSP00000285900:p.Arg467Gln					GRIA1_uc003luy.3_Missense_Mutation_p.R467Q|GRIA1_uc003luz.3_Missense_Mutation_p.R372Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R387Q|GRIA1_uc011dcx.1_Missense_Mutation_p.R398Q|GRIA1_uc011dcy.1_Missense_Mutation_p.R477Q|GRIA1_uc011dcz.1_Missense_Mutation_p.R477Q|GRIA1_uc010jia.1_Missense_Mutation_p.R447Q	p.R467Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1765	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	467			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1400G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516394	0.85495	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.76448	1.13;1.13;-1.02;1.13;1.13;1.13;-1.02	5.44	5.44	0.79542	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	L	0.47016	1.485	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;1.0;0.533;1.0;1.0;0.903	D;D;B;D;D;B	0.91635	0.999;0.999;0.036;0.999;0.998;0.313	T	0.79393	-0.1822	10	0.18276	T	0.48	.	18.2393	0.89961	0.0:0.0:1.0:0.0	.	477;477;387;477;467;467	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	Q	467;467;387;421;467;398;398;477;477	ENSP00000285900:R467Q;ENSP00000427920:R387Q;ENSP00000339343:R467Q;ENSP00000427864:R398Q;ENSP00000442108:R398Q;ENSP00000428994:R477Q;ENSP00000415569:R477Q	ENSP00000285900:R467Q	R	+	2	0	GRIA1	153058774	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.787000	0.85759	2.548000	0.85928	0.655000	0.94253	CGA		PASS	0.562	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			20	34	20	34	---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11185599	11185599	+	Silent	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr6:11185599C>T	ENST00000379446.5	-	7	2467	c.2301G>A	c.(2299-2301)gtG>gtA	p.V767V	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.V767V	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	767					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.V767V(3)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCTGGGCAGTCACCTGCCGTG	0.557																																						uc003mzv.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(2299-2301)GTG>GTA		neural precursor cell expressed, developmentally							191.0	158.0	169.0					6																	11185599		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11185599C>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2301G>A	6.37:g.11185599C>T						NEDD9_uc010joz.2_Silent_p.V767V|NEDD9_uc003mzw.3_Silent_p.V621V	p.V767V	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		7	2468	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	767					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.2301G>A	CCDS4520.1																																																																																				PASS	0.557	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		7	199	7	199	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66205194	66205194	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr6:66205194G>A	ENST00000370621.3	-	4	636	c.110C>T	c.(109-111)tCa>tTa	p.S37L	EYS_ENST00000503581.1_Missense_Mutation_p.S37L|EYS_ENST00000342421.5_Missense_Mutation_p.S37L|EYS_ENST00000393380.2_Missense_Mutation_p.S37L|EYS_ENST00000370618.3_Missense_Mutation_p.S37L|EYS_ENST00000370616.2_Missense_Mutation_p.S37L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	37					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S37L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACATATGATGAGGGTTGTGG	0.393																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(109-111)TCA>TTA		eyes shut homolog isoform 1							105.0	105.0	105.0					6																	66205194		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205194G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.110C>T	6.37:g.66205194G>A	ENSP00000359655:p.Ser37Leu					EYS_uc003peq.2_Missense_Mutation_p.S37L|EYS_uc003per.1_Missense_Mutation_p.S37L|EYS_uc010kaj.1_RNA	p.S37L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	648	-			37					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.110C>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.975144	0.74360	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89875	-1.61;-1.6;-1.6;-2.58;-2.54;-2.54	4.76	-4.37	0.03633	.	.	.	.	.	T	0.60894	0.2304	N	0.19112	0.55	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.08055	0.001;0.003;0.002	T	0.54563	-0.8275	9	0.54805	T	0.06	.	5.5871	0.17281	0.5419:0.0:0.2738:0.1843	.	37;37;37	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	37	ENSP00000424243:S37L;ENSP00000359655:S37L;ENSP00000359650:S37L;ENSP00000377042:S37L;ENSP00000341818:S37L;ENSP00000359652:S37L	ENSP00000341818:S37L	S	-	2	0	EYS	66261915	0.000000	0.05858	0.000000	0.03702	0.574000	0.36063	0.050000	0.14120	-0.611000	0.05709	-0.229000	0.12294	TCA		PASS	0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	279	7	279	---	---	---	---
MARCKS	4082	broad.mit.edu	37	6	114181255	114181255	+	Missense_Mutation	SNP	A	A	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr6:114181255A>T	ENST00000368635.4	+	2	880	c.499A>T	c.(499-501)Agc>Tgc	p.S167C		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	167	Calmodulin-binding (PSD).				energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.S167C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		TTTCAAGCTGAGCGGCTTCTC	0.617																																						uc003pvy.3																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)AGC>TGC		myristoylated alanine-rich protein kinase C							10.0	12.0	12.0					6																	114181255		2024	4101	6125	SO:0001583	missense	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181255A>T	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.499A>T	6.37:g.114181255A>T	ENSP00000357624:p.Ser167Cys						p.S167C	NM_002356	NP_002347	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	894	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	167			Calmodulin-binding (PSD).		E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	ENST00000368635.4	37	c.499A>T	CCDS5101.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369202	0.82463	.	.	ENSG00000155130	ENST00000368635	T	0.46063	0.88	3.17	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55798	-0.8084	10	0.87932	D	0	.	10.6886	0.45858	1.0:0.0:0.0:0.0	.	167	P29966	MARCS_HUMAN	C	167	ENSP00000357624:S167C	ENSP00000357624:S167C	S	+	1	0	MARCKS	114287948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.941000	0.63540	1.188000	0.43014	0.374000	0.22700	AGC		PASS	0.617	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		19	33	19	33	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146480556	146480556	+	Missense_Mutation	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr6:146480556C>G	ENST00000282753.1	+	2	1008	c.773C>G	c.(772-774)tCt>tGt	p.S258C	GRM1_ENST00000355289.4_Missense_Mutation_p.S258C|GRM1_ENST00000361719.2_Missense_Mutation_p.S258C|GRM1_ENST00000507907.1_Missense_Mutation_p.S258C|GRM1_ENST00000492807.2_Missense_Mutation_p.S258C|GRM1_ENST00000392299.2_Missense_Mutation_p.S258C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	258					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.S258C(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCGCCCATTCTGACAAAATC	0.527																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(772-774)TCT>TGT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						102.0	94.0	96.0					6																	146480556		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480556C>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.773C>G	6.37:g.146480556C>G	ENSP00000282753:p.Ser258Cys					GRM1_uc010khu.1_Missense_Mutation_p.S258C|GRM1_uc010khv.1_Missense_Mutation_p.S258C|GRM1_uc003qll.2_Missense_Mutation_p.S258C|GRM1_uc011edz.1_Missense_Mutation_p.S258C|GRM1_uc011eea.1_Missense_Mutation_p.S258C	p.S258C	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1243	+		Ovarian(120;0.0387)	258			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.773C>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982078	0.93044	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.065998	0.64402	D	0.000006	D	0.92877	0.7734	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.76575	0.979;0.964;0.988;0.967	D	0.93720	0.7032	10	0.87932	D	0	.	19.1244	0.93376	0.0:1.0:0.0:0.0	.	258;258;253;258	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	258	ENSP00000354896:S258C;ENSP00000376119:S258C;ENSP00000424095:S258C;ENSP00000282753:S258C;ENSP00000347437:S258C;ENSP00000425599:S258C	ENSP00000282753:S258C	S	+	2	0	GRM1	146522249	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	7.441000	0.80485	2.513000	0.84729	0.655000	0.94253	TCT		PASS	0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		23	148	23	148	---	---	---	---
GINM1	116254	broad.mit.edu	37	6	149903651	149903651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr6:149903651C>T	ENST00000367419.5	+	7	914	c.793C>T	c.(793-795)Cag>Tag	p.Q265*		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	265						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q265*(1)									AGTATTCTTTCAGTTTTTGAA	0.363																																						uc003qmq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(793-795)CAG>TAG		hypothetical protein LOC116254 precursor							170.0	171.0	170.0					6																	149903651		2203	4300	6503	SO:0001587	stop_gained	116254					integral to membrane		g.chr6:149903651C>T	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.793C>T	6.37:g.149903651C>T	ENSP00000356389:p.Gln265*						p.Q265*	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	7	820	+		Ovarian(120;0.0907)	265			Extracellular (Potential).		B2RDY7|E1P5A2	Nonsense_Mutation	SNP	ENST00000367419.5	37	c.793C>T	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433728	0.83776	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.59	4.44	0.53790	.	0.339562	0.35495	N	0.003164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4013	11.7172	0.51661	0.8451:0.1549:0.0:0.0	.	.	.	.	X	265	.	.	Q	+	1	0	C6orf72	149945344	0.998000	0.40836	0.547000	0.28179	0.834000	0.47266	2.346000	0.44027	1.063000	0.40649	-0.262000	0.10625	CAG		PASS	0.363	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		6	320	6	320	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42005902	42005902	+	Silent	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:42005902G>A	ENST00000395925.3	-	15	2853	c.2769C>T	c.(2767-2769)ccC>ccT	p.P923P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	923					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P923P(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTGCTGGGCGGGCGTGAGGC	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2767-2769)CCC>CCT		GLI-Kruppel family member GLI3							19.0	24.0	22.0					7																	42005902		2188	4292	6480	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005902G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2769C>T	7.37:g.42005902G>A						GLI3_uc011kbg.1_Silent_p.P864P	p.P923P	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	2860	-			923					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.2769C>T	CCDS5465.1																																																																																				PASS	0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		7	16	7	16	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408322	47408322	+	Missense_Mutation	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:47408322C>G	ENST00000398879.1	-	17	2287	c.1921G>C	c.(1921-1923)Gtg>Ctg	p.V641L	TNS3_ENST00000355730.3_Missense_Mutation_p.V401L|TNS3_ENST00000311160.9_Missense_Mutation_p.V641L			Q68CZ2	TENS3_HUMAN	tensin 3	641					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.V641L(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGACAGCCACCCTACTGCTG	0.662																																						uc003tnv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1921-1923)GTG>CTG		tensin 3							49.0	57.0	55.0					7																	47408322		2044	4186	6230	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408322C>G	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1921G>C	7.37:g.47408322C>G	ENSP00000381854:p.Val641Leu					TNS3_uc003tnw.2_Missense_Mutation_p.V641L	p.V641L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			17	2288	-			641					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1921G>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650464	0.29336	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93659	-2.83;-2.83;-3.26;-2.92	5.59	5.59	0.84812	.	2.018570	0.02164	N	0.059087	D	0.90844	0.7124	L	0.45581	1.43	0.41925	D	0.990534	P	0.37864	0.61	B	0.31946	0.138	T	0.76990	-0.2754	10	0.28530	T	0.3	-13.5794	10.5159	0.44889	0.0:0.9116:0.0:0.0884	.	641	Q68CZ2	TENS3_HUMAN	L	641;751;641;401;97;744	ENSP00000312143:V641L;ENSP00000381854:V641L;ENSP00000347968:V401L;ENSP00000414358:V744L	ENSP00000312143:V641L	V	-	1	0	TNS3	47374847	0.006000	0.16342	0.711000	0.30485	0.244000	0.25665	2.132000	0.42083	2.614000	0.88457	0.655000	0.94253	GTG		PASS	0.662	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		41	166	41	166	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72892464	72892464	+	Missense_Mutation	SNP	T	T	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:72892464T>C	ENST00000339594.4	-	7	1665	c.1327A>G	c.(1327-1329)Atg>Gtg	p.M443V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.M443V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	443	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.M443V(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTTTGGCCATATCCAACAAA	0.478																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(1327-1329)ATG>GTG		bromodomain adjacent to zinc finger domain, 1B							137.0	117.0	124.0					7																	72892464		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892464T>C	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1327A>G	7.37:g.72892464T>C	ENSP00000342434:p.Met443Val						p.M443V	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	1672	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	443			Lys-rich.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1327A>G	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395376	0.25205	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.56776	0.44;0.44	5.56	5.56	0.83823	.	0.044310	0.85682	D	0.000000	T	0.39118	0.1066	L	0.27053	0.805	0.39545	D	0.968887	B	0.31485	0.325	B	0.25405	0.06	T	0.32508	-0.9904	10	0.33141	T	0.24	-31.1844	14.8993	0.70666	0.0:0.0:0.0:1.0	.	443	Q9UIG0	BAZ1B_HUMAN	V	443	ENSP00000342434:M443V;ENSP00000385442:M443V	ENSP00000342434:M443V	M	-	1	0	BAZ1B	72530400	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.773000	0.62331	2.112000	0.64535	0.482000	0.46254	ATG		PASS	0.478	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		74	232	74	232	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763554	110763554	+	Silent	SNP	T	T	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:110763554T>G	ENST00000422987.3	+	2	1557	c.726T>G	c.(724-726)tcT>tcG	p.S242S	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Silent_p.S242S|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Silent_p.S242S|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	242					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S242S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAGCATCTCTTTTTACGATA	0.348																																						uc003vft.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(724-726)TCT>TCG		leucine rich repeat neuronal 3 precursor							58.0	61.0	60.0					7																	110763554		2202	4298	6500	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763554T>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.726T>G	7.37:g.110763554T>G						IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.S242S|LRRN3_uc003vfs.3_Silent_p.S242S	p.S242S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1772	+			242			Extracellular (Potential).|LRR 8.		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.726T>G	CCDS5754.1																																																																																				PASS	0.348	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		65	123	65	123	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117232171	117232171	+	Silent	SNP	C	C	T	rs200204024		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:117232171C>T	ENST00000003084.6	+	14	2082	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	CFTR_ENST00000454343.1_Silent_p.F589F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	650					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.F650F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GTGATTCTTTCGACCAATTTA	0.383									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1948-1950)TTC>TTT		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						66.0	67.0	67.0					7																	117232171		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232171C>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1950C>T	7.37:g.117232171C>T						CFTR_uc011knq.1_Silent_p.F56F	p.F650F	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2082	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		650			Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.1950C>T	CCDS5773.1																																																																																				PASS	0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	143	9	143	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128452070	128452070	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:128452070G>A	ENST00000297788.4	+	13	2612	c.2245G>A	c.(2245-2247)Ggt>Agt	p.G749S	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	749						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G749F(4)|p.G749S(2)|p.G865F(2)|p.G865S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAAGAGCTATGGTAGCATGGT	0.498																																						uc003vnv.1																			9	Substitution - Missense(9)		lung(9)	ovary(2)	2						c.(2245-2247)GGT>AGT		coiled-coil domain containing 136							100.0	100.0	100.0					7																	128452070		2029	4191	6220	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128452070G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2245G>A	7.37:g.128452070G>A	ENSP00000297788:p.Gly749Ser					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.G565S|CCDC136_uc010llq.1_Missense_Mutation_p.G118S|CCDC136_uc003vny.1_Missense_Mutation_p.G359S	p.G749S	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			13	2612	+			749					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2245G>A	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.22|10.22	1.290525|1.290525	0.23478|0.23478	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T;T|.	0.45668|.	0.89;0.89|.	5.63|5.63	0.626|0.626	0.17670|0.17670	.|.	1.518450|.	0.03678|.	N|.	0.245139|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19331|.	0.007;0.035;0.035|.	B;B;B|.	0.20767|.	0.007;0.031;0.031|.	T|T	0.25572|0.25572	-1.0128|-1.0128	10|5	0.11794|.	T|.	0.64|.	-0.0056|-0.0056	4.6226|4.6226	0.12463|0.12463	0.3195:0.0:0.5397:0.1409|0.3195:0.0:0.5397:0.1409	.|.	749;749;749|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	S|I	749;749;749;340|625	ENSP00000297788:G749S;ENSP00000417991:G340S|.	ENSP00000297788:G749S|.	G|M	+|+	1|3	0|0	CCDC136|CCDC136	128239306|128239306	0.025000|0.025000	0.19082|0.19082	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.338000|1.338000	0.33873|0.33873	0.046000|0.046000	0.15833|0.15833	-0.150000|-0.150000	0.13652|0.13652	GGT|ATG		PASS	0.498	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		50	127	50	127	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128494225	128494225	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:128494225C>T	ENST00000325888.8	+	40	6943	c.6682C>T	c.(6682-6684)Cgg>Tgg	p.R2228W	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2195W	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2228	Intradomain insert; mediate targeting to Z lines.				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.R2228W(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						CTTCCTGGGCCGGGAGCGCCT	0.716																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6682-6684)CGG>TGG		gamma filamin isoform a							20.0	27.0	25.0					7																	128494225		1965	4136	6101	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494225C>T	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.6682C>T	7.37:g.128494225C>T	ENSP00000327145:p.Arg2228Trp					FLNC_uc003voa.3_Missense_Mutation_p.R2195W	p.R2228W	NM_001458	NP_001449	Q14315	FLNC_HUMAN			40	6891	+			2228			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6682C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340873	0.81911	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85702	-2.01;-2.02	5.64	4.76	0.60689	.	0.000000	0.64402	D	0.000001	D	0.86748	0.6007	N	0.22421	0.69	0.51482	D	0.999929	D;D	0.89917	1.0;0.997	D;P	0.80764	0.994;0.761	D	0.88473	0.3063	10	0.87932	D	0	.	13.8475	0.63477	0.1537:0.8463:0.0:0.0	.	2195;2228	Q14315-2;Q14315	.;FLNC_HUMAN	W	2228;2195	ENSP00000327145:R2228W;ENSP00000344002:R2195W	ENSP00000327145:R2228W	R	+	1	2	FLNC	128281461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.154000	0.42291	1.373000	0.46208	0.655000	0.94253	CGG		PASS	0.716	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			9	33	9	33	---	---	---	---
AHCYL2	23382	broad.mit.edu	37	7	129040166	129040166	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:129040166G>A	ENST00000325006.3	+	6	913	c.859G>A	c.(859-861)Gat>Aat	p.D287N	AHCYL2_ENST00000446544.2_Missense_Mutation_p.D286N|AHCYL2_ENST00000474594.1_Missense_Mutation_p.D184N|AHCYL2_ENST00000446212.1_Missense_Mutation_p.D185N|AHCYL2_ENST00000531335.2_Missense_Mutation_p.D206N|AHCYL2_ENST00000490911.1_Missense_Mutation_p.D184N	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	287					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.D184N(1)|p.D287N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						AGAGTCAGAAGATGACTTTTG	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.1																			2	Substitution - Missense(2)	p.D287G(1)	lung(2)	ovary(2)	2						c.(859-861)GAT>AAT		S-adenosylhomocysteine hydrolase-like 2 isoform							190.0	187.0	188.0					7																	129040166		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129040166G>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.859G>A	7.37:g.129040166G>A	ENSP00000315931:p.Asp287Asn					AHCYL2_uc003vot.2_Missense_Mutation_p.D286N|AHCYL2_uc003vov.2_Missense_Mutation_p.D184N|AHCYL2_uc011kow.1_Missense_Mutation_p.D185N|AHCYL2_uc011kox.1_Missense_Mutation_p.D184N	p.D287N	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			6	913	+			287					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.859G>A	CCDS5812.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442251	0.96187	.	.	ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.73319	2.225	0.58432	D	0.999996	P;P;D;P;P	0.53151	0.89;0.89;0.958;0.89;0.949	P;P;P;P;P	0.57425	0.722;0.722;0.82;0.722;0.725	D	0.87336	0.2328	10	0.87932	D	0	-9.6753	17.128	0.86719	0.0:0.0:1.0:0.0	.	184;185;287;184;286	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.;.;SAHH3_HUMAN;.;.	N	287;286;206;184;185;184	ENSP00000315931:D287N;ENSP00000413639:D286N;ENSP00000431787:D206N;ENSP00000420459:D184N;ENSP00000405267:D185N;ENSP00000420801:D184N	ENSP00000315931:D287N	D	+	1	0	AHCYL2	128827402	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.384000	0.97219	2.446000	0.82766	0.563000	0.77884	GAT		PASS	0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			63	118	63	118	---	---	---	---
TAS2R41	259287	broad.mit.edu	37	7	143175723	143175723	+	Missense_Mutation	SNP	A	A	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:143175723A>G	ENST00000408916.1	+	1	758	c.758A>G	c.(757-759)gAt>gGt	p.D253G	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	253					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D253G(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGATCATTGATGCCGCAAAA	0.498																																						uc003wdc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(757-759)GAT>GGT		taste receptor, type 2, member 41							134.0	133.0	134.0					7																	143175723		2037	4199	6236	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175723A>G	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.758A>G	7.37:g.143175723A>G	ENSP00000386201:p.Asp253Gly					uc003wda.2_Intron	p.D253G	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	758	+	Melanoma(164;0.15)		253			Helical; Name=6; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.758A>G	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283271	0.23392	.	.	ENSG00000221855	ENST00000408916	T	0.37058	1.22	6.0	3.5	0.40072	.	0.351548	0.21287	U	0.077056	T	0.34716	0.0907	M	0.72479	2.2	0.09310	N	1	P	0.39216	0.664	B	0.39299	0.296	T	0.34229	-0.9837	10	0.52906	T	0.07	.	4.6588	0.12632	0.6737:0.163:0.1633:0.0	.	253	P59536	T2R41_HUMAN	G	253	ENSP00000386201:D253G	ENSP00000386201:D253G	D	+	2	0	TAS2R41	142885845	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.800000	0.27042	1.083000	0.41159	0.533000	0.62120	GAT		PASS	0.498	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			55	137	55	137	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174631	150174631	+	Silent	SNP	T	T	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr7:150174631T>A	ENST00000307271.3	+	5	2335	c.1761T>A	c.(1759-1761)ctT>ctA	p.L587L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	587	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.L587L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACAAAGCCCTTCGGCGCATTT	0.468																																						uc003whj.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1759-1761)CTT>CTA		GTPase, IMAP family member 8							74.0	85.0	81.0					7																	150174631		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174631T>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1761T>A	7.37:g.150174631T>A							p.L587L	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2091	+			587						Silent	SNP	ENST00000307271.3	37	c.1761T>A	CCDS34777.1																																																																																				PASS	0.468	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		74	162	74	162	---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1728668	1728668	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:1728668G>T	ENST00000331222.4	+	3	1043	c.796G>T	c.(796-798)Gca>Tca	p.A266S	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	266					adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A266S(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CTGGAACTTCGCACAGCCAGA	0.577																																					Pancreas(155;338 1942 6138 10888 50612)	uc003wpo.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(796-798)GCA>TCA		ceroid-lipofuscinosis, neuronal 8							97.0	101.0	100.0					8																	1728668		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728668G>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.796G>T	8.37:g.1728668G>T	ENSP00000328182:p.Ala266Ser						p.A266S	NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	1101	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	266					Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.796G>T	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549568	0.13374	.	.	ENSG00000182372	ENST00000331222	D	0.91521	-2.86	5.17	3.31	0.37934	.	0.467919	0.18586	U	0.136879	T	0.82121	0.4968	L	0.40543	1.245	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.63377	-0.6651	10	0.11485	T	0.65	-16.2694	4.8559	0.13559	0.1525:0.0:0.5362:0.3113	.	266	Q9UBY8	CLN8_HUMAN	S	266	ENSP00000328182:A266S	ENSP00000328182:A266S	A	+	1	0	CLN8	1716075	0.074000	0.21230	0.135000	0.22099	0.501000	0.33797	1.148000	0.31614	1.111000	0.41721	0.650000	0.86243	GCA		PASS	0.577	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		65	153	65	153	---	---	---	---
SLC35G5	83650	broad.mit.edu	37	8	11189016	11189017	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:11189016_11189017GC>CT	ENST00000382435.4	+	1	620_621	c.401_402GC>CT	c.(400-402)cGC>cCT	p.R134P		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	134	EamA 1.					integral component of membrane (GO:0016021)		p.R134P(2)|p.R134R(1)									GCCACTGTTCGCAAAGGTTCTT	0.609																																						uc003wtp.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(400-402)CGC>CCC|c.(400-402)CGC>CGT		acyl-malonyl condensing enzyme																																				SO:0001583	missense	83650					integral to membrane		g.chr8:11189016G>C|g.chr8:11189017C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	Exception_encountered	8.37:g.11189016_11189017delinsCT	ENSP00000371872:p.Arg134Pro						p.R134P|p.R134R	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	522|523	+			134			DUF6 1.		A2RRL6	Missense_Mutation|Silent	SNP	ENST00000382435.4	37	c.401G>C|c.402C>T	CCDS5980.1																																																																																				PASS	0.609	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		70|71	168|172	70	168	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25126369	25126369	+	Missense_Mutation	SNP	A	A	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:25126369A>G	ENST00000276440.7	+	3	180	c.136A>G	c.(136-138)Aga>Gga	p.R46G	DOCK5_ENST00000481100.1_Missense_Mutation_p.R46G|DOCK5_ENST00000410074.1_Missense_Mutation_p.R46G	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	46	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R46G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGTTGGTACAGAGGATATAC	0.299																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(136-138)AGA>GGA		dedicator of cytokinesis 5							58.0	56.0	57.0					8																	25126369		2200	4300	6500	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25126369A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.136A>G	8.37:g.25126369A>G	ENSP00000276440:p.Arg46Gly					DOCK5_uc010luf.1_RNA|DOCK5_uc003xef.2_Missense_Mutation_p.R46G	p.R46G	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	3	273	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	46			SH3.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.136A>G	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455138	0.63401	.	.	ENSG00000147459	ENST00000410074;ENST00000481100;ENST00000276440	T;T;T	0.52057	0.68;0.68;0.68	5.27	2.7	0.31948	Src homology-3 domain (4);	0.067545	0.56097	D	0.000034	T	0.68815	0.3042	M	0.87180	2.865	0.48341	D	0.999632	D	0.89917	1.0	D	0.91635	0.999	T	0.71251	-0.4648	10	0.56958	D	0.05	.	10.1788	0.42955	0.6809:0.3191:0.0:0.0	.	46	Q9H7D0	DOCK5_HUMAN	G	46	ENSP00000387036:R46G;ENSP00000429737:R46G;ENSP00000276440:R46G	ENSP00000276440:R46G	R	+	1	2	DOCK5	25182286	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.476000	0.35420	0.816000	0.34421	0.528000	0.53228	AGA		PASS	0.299	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		5	22	5	22	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540872	55540872	+	Missense_Mutation	SNP	A	A	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:55540872A>T	ENST00000220676.1	+	4	4578	c.4430A>T	c.(4429-4431)gAt>gTt	p.D1477V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1477					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D1477V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CATGACACTGATATCTTTAAT	0.358																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4429-4431)GAT>GTT		retinitis pigmentosa RP1 protein							44.0	48.0	47.0					8																	55540872		2200	4299	6499	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540872A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4430A>T	8.37:g.55540872A>T	ENSP00000220676:p.Asp1477Val					RP1_uc011ldy.1_Intron	p.D1477V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4578	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1477						Missense_Mutation	SNP	ENST00000220676.1	37	c.4430A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	6.701	0.497913	0.12762	.	.	ENSG00000104237	ENST00000220676	T	0.23754	1.89	5.48	-8.33	0.00992	.	1.581150	0.03695	N	0.247628	T	0.21509	0.0518	L	0.57536	1.79	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.28332	-1.0047	10	0.41790	T	0.15	.	7.0088	0.24851	0.1293:0.1321:0.5612:0.1774	.	1477	P56715	RP1_HUMAN	V	1477	ENSP00000220676:D1477V	ENSP00000220676:D1477V	D	+	2	0	RP1	55703425	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-1.743000	0.01834	-1.299000	0.02344	-0.408000	0.06270	GAT		PASS	0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		36	93	36	93	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72935258	72935258	+	Missense_Mutation	SNP	A	A	T	rs535633249		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:72935258A>T	ENST00000262209.4	-	27	3450	c.3243T>A	c.(3241-3243)gaT>gaA	p.D1081E	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1081					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.D1081E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATGGCTATCATCATCCTCTG	0.398																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(3241-3243)GAT>GAA		ankyrin-like protein 1	Menthol(DB00825)						228.0	197.0	208.0					8																	72935258		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72935258A>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3243T>A	8.37:g.72935258A>T	ENSP00000262209:p.Asp1081Glu					uc011lff.1_Intron|uc003xyy.2_Intron	p.D1081E	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		27	3418	-			1081			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.3243T>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	5.659	0.306149	0.10733	.	.	ENSG00000104321	ENST00000262209	T	0.36340	1.26	5.92	0.861	0.19048	.	0.216222	0.48286	N	0.000188	T	0.05364	0.0142	N	0.00063	-2.32	0.19575	N	0.999963	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.11485	T	0.65	-22.7924	4.7469	0.13042	0.2393:0.132:0.0:0.6287	.	1081	O75762	TRPA1_HUMAN	E	1081	ENSP00000262209:D1081E	ENSP00000262209:D1081E	D	-	3	2	TRPA1	73097812	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.109000	0.31135	0.126000	0.18424	-0.384000	0.06662	GAT		PASS	0.398	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		45	106	45	106	---	---	---	---
HEY1	23462	broad.mit.edu	37	8	80677993	80677993	+	Silent	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:80677993C>T	ENST00000354724.3	-	5	544	c.345G>A	c.(343-345)gcG>gcA	p.A115A	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Silent_p.A25A|HEY1_ENST00000337919.5_Silent_p.A119A	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	115	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A115A(2)|p.A119A(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CAAGGGCGTGCGCGTCAAAGT	0.488			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ybm.2				Dom	yes		8	8q21	23462		hairy/enhancer-of-split related with YRPW motif 1			M					3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	lung(3)	3						c.(343-345)GCG>GCA		hairy/enhancer-of-split related with YRPW motif							42.0	44.0	43.0					8																	80677993		2203	4300	6503	SO:0001819	synonymous_variant	23462				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr8:80677993C>T	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.345G>A	8.37:g.80677993C>T			OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	HEY1_uc010lzq.2_5'UTR|HEY1_uc003ybl.2_Silent_p.A119A	p.A115A	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Epithelial(68;0.076)|all cancers(69;0.179)		5	545	-	all_lung(9;5.1e-05)		115			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).		B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	c.345G>A	CCDS6225.1																																																																																				PASS	0.488	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		4	107	4	107	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113299462	113299462	+	Silent	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:113299462C>A	ENST00000297405.5	-	58	9406	c.9162G>T	c.(9160-9162)ggG>ggT	p.G3054G	CSMD3_ENST00000352409.3_Silent_p.G2984G|CSMD3_ENST00000455883.2_Silent_p.G2885G|CSMD3_ENST00000343508.3_Silent_p.G3014G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3054	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3054G(1)|p.G3014G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGCCACATGTCCCAGTAGCAT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)	p.G3054E(1)	lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9160-9162)GGG>GGT		CUB and Sushi multiple domains 3 isoform 1							104.0	96.0	99.0					8																	113299462		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113299462C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9162G>T	8.37:g.113299462C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G2256G|CSMD3_uc003ynt.2_Silent_p.G3014G|CSMD3_uc011lhx.1_Silent_p.G2885G	p.G3054G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9321	-			3054			Extracellular (Potential).|Sushi 22.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9162G>T	CCDS6315.1																																																																																				PASS	0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		45	100	45	100	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113395831	113395831	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr8:113395831C>A	ENST00000297405.5	-	37	6240	c.5996G>T	c.(5995-5997)gGa>gTa	p.G1999V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1929V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1895V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1959V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1999	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1959V(1)|p.G1999V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGTTGTCTCCCCCATCATA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5995-5997)GGA>GTA		CUB and Sushi multiple domains 3 isoform 1							82.0	81.0	81.0					8																	113395831		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113395831C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5996G>T	8.37:g.113395831C>A	ENSP00000297405:p.Gly1999Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G1201V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1959V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1895V	p.G1999V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			37	6155	-			1999			Extracellular (Potential).|CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5996G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253630	0.39797	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	4.42	4.42	0.53409	CUB (5);	0.254682	0.32120	N	0.006555	T	0.24851	0.0603	L	0.43701	1.375	0.53688	D	0.999977	B;B;P	0.43169	0.001;0.0;0.8	B;B;P	0.52159	0.002;0.004;0.691	T	0.00763	-1.1576	10	0.28530	T	0.3	.	13.6283	0.62181	0.0:0.797:0.203:0.0	.	1895;1999;1959	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1959;1999;1269;1895;1929	ENSP00000345799:G1959V;ENSP00000297405:G1999V;ENSP00000341558:G1269V;ENSP00000412263:G1895V;ENSP00000343124:G1929V	ENSP00000297405:G1999V	G	-	2	0	CSMD3	113465007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.201000	0.51059	2.440000	0.82611	0.467000	0.42956	GGA		PASS	0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	91	32	91	---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17795590	17795590	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr9:17795590C>A	ENST00000380607.4	+	9	1028	c.908C>A	c.(907-909)cCt>cAt	p.P303H	SH3GL2_ENST00000537391.1_Missense_Mutation_p.P256H	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	303	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.P303H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GACTTTGAACCTGAAAATGAA	0.468																																						uc003zna.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(907-909)CCT>CAT		SH3-domain GRB2-like 2							104.0	98.0	100.0					9																	17795590		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17795590C>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.908C>A	9.37:g.17795590C>A	ENSP00000369981:p.Pro303His					SH3GL2_uc011lmy.1_Missense_Mutation_p.P256H	p.P303H	NM_003026	NP_003017	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	9	1196	+			303			SH3.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.908C>A	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784837	0.70222	.	.	ENSG00000107295	ENST00000541215;ENST00000380607;ENST00000537391	T;T	0.60424	0.19;0.19	5.7	4.8	0.61643	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);Variant SH3 (1);	0.116691	0.56097	D	0.000025	D	0.82318	0.5011	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87784	0.2614	10	0.87932	D	0	.	16.7605	0.85510	0.0:0.8709:0.1291:0.0	.	303	Q99962	SH3G2_HUMAN	H	132;303;256	ENSP00000369981:P303H;ENSP00000443365:P256H	ENSP00000369981:P303H	P	+	2	0	SH3GL2	17785590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	1.401000	0.46761	0.561000	0.74099	CCT		PASS	0.468	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		44	37	44	37	---	---	---	---
DCAF10	79269	broad.mit.edu	37	9	37801401	37801401	+	Splice_Site	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr9:37801401G>T	ENST00000377724.3	+	1	903	c.538G>T	c.(538-540)Ggg>Tgg	p.G180W	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Splice_Site_p.G180W	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	180					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.G180W(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTCGCCCGACGGGTAAGCGCG	0.736																																						uc004aao.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(538-540)GGG>TGG		WD repeat domain 32							16.0	9.0	12.0					9																	37801401		1910	3861	5771	SO:0001630	splice_region_variant	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37801401G>T	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.539+1G>T	9.37:g.37801401G>T						uc004aan.1_5'Flank|DCAF10_uc010mlz.2_Intron	p.G180W	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN			1	612	+			180			WD 1.		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.538G>T	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611233	0.87258	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.02103	4.45;4.45	4.61	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.00436	-1.1740	10	0.87932	D	0	.	11.786	0.52043	0.0:0.1795:0.8205:0.0	.	180	Q5QP82	DCA10_HUMAN	W	180	ENSP00000366953:G180W;ENSP00000242323:G180W	ENSP00000242323:G180W	G	+	1	0	DCAF10	37791401	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.564000	0.73969	2.092000	0.63282	0.313000	0.20887	GGG		PASS	0.736	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345	Missense_Mutation	8	16	8	16	---	---	---	---
ERCC6L2	375748	broad.mit.edu	37	9	98683538	98683538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr9:98683538C>T	ENST00000288985.7	+	7	1578	c.1273C>T	c.(1273-1275)Caa>Taa	p.Q425*	ERCC6L2_ENST00000437817.1_Nonsense_Mutation_p.Q236*|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	425					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.Q425*(2)									TTTGATACTTCAATCTTCTGA	0.348																																						uc004avt.3																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)		0						c.(1273-1275)CAA>TAA		RAD26L hypothetical protein							114.0	115.0	114.0					9																	98683538		2203	4300	6503	SO:0001587	stop_gained	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98683538C>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1273C>T	9.37:g.98683538C>T	ENSP00000288985:p.Gln425*					C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Nonsense_Mutation_p.Q127*|C9orf102_uc010mry.1_Nonsense_Mutation_p.Q127*|C9orf102_uc010mrz.2_Nonsense_Mutation_p.Q236*|C9orf102_uc004avu.2_5'Flank	p.Q425*	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			7	1661	+		Acute lymphoblastic leukemia(62;0.0559)	425					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	ENST00000288985.7	37	c.1273C>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942365	0.73672	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	.	.	.	5.51	0.954	0.19595	.	1.102450	0.07095	N	0.839415	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.5024	16.0778	0.80979	0.5557:0.4443:0.0:0.0	.	.	.	.	X	107;425;236	.	ENSP00000288985:Q425X	Q	+	1	0	C9orf102	97723359	0.000000	0.05858	0.200000	0.23457	0.900000	0.52787	0.565000	0.23578	0.271000	0.22005	0.585000	0.79938	CAA		PASS	0.348	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		8	142	8	142	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101778305	101778305	+	Silent	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr9:101778305C>G	ENST00000375001.3	+	11	1974	c.1551C>G	c.(1549-1551)ccC>ccG	p.P517P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	517	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.P517P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGAGGAGCCCCTCATCACAG	0.592																																						uc004azb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(1549-1551)CCC>CCG		alpha 1 type XV collagen precursor							45.0	46.0	45.0					9																	101778305		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101778305C>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1551C>G	9.37:g.101778305C>G							p.P517P	NM_001855	NP_001846	P39059	COFA1_HUMAN			11	1757	+		Acute lymphoblastic leukemia(62;0.0562)	517			Nonhelical region 1 (NC1).|4.|4 X tandem repeats.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1551C>G	CCDS35081.1																																																																																				PASS	0.592	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		16	34	16	34	---	---	---	---
OR1Q1	158131	broad.mit.edu	37	9	125377461	125377461	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr9:125377461C>A	ENST00000297913.2	+	1	514	c.445C>A	c.(445-447)Cat>Aat	p.H149N	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	149					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H149N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTCATGTGCCATGCTCTCTC	0.488																																						uc011lyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)CAT>AAT		olfactory receptor, family 1, subfamily Q,							206.0	174.0	185.0					9																	125377461		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377461C>A		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.445C>A	9.37:g.125377461C>A	ENSP00000297913:p.His149Asn						p.H149N	NM_012364	NP_036496	Q15612	OR1Q1_HUMAN			1	445	+			149			Helical; Name=4; (Potential).		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.445C>A	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	9.888	1.203447	0.22121	.	.	ENSG00000165202	ENST00000297913	T	0.36878	1.23	5.48	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.270973	0.26654	N	0.023192	T	0.25044	0.0608	L	0.34521	1.04	0.09310	N	1	P	0.45768	0.866	B	0.38655	0.278	T	0.17899	-1.0354	10	0.87932	D	0	-18.6122	9.0972	0.36647	0.0:0.8109:0.0:0.1891	.	149	Q15612	OR1Q1_HUMAN	N	149	ENSP00000297913:H149N	ENSP00000297913:H149N	H	+	1	0	OR1Q1	124417282	0.000000	0.05858	0.230000	0.23976	0.093000	0.18481	-0.739000	0.04866	1.549000	0.49425	0.655000	0.94253	CAT		PASS	0.488	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			47	218	47	218	---	---	---	---
OR1L4	254973	broad.mit.edu	37	9	125487159	125487159	+	Silent	SNP	T	T	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr9:125487159T>C	ENST00000259466.1	+	1	891	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D297D(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GGAACAAAGATATGAAAAGGG	0.398																																						uc004bmu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)GAT>GAC		olfactory receptor, family 1, subfamily L,							59.0	58.0	58.0					9																	125487159		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125487159T>C		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.891T>C	9.37:g.125487159T>C							p.D297D	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	891	+			297			Cytoplasmic (Potential).		Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.891T>C	CCDS35129.1																																																																																				PASS	0.398	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			52	77	52	77	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131745571	131745571	+	Splice_Site	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr9:131745571G>A	ENST00000372577.2	+	18	1817		c.e18-1			NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.?(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTCCAACCAGGTTAACGACA	0.463																																						uc004bws.1																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.e18-1		nucleoporin 188kDa							186.0	175.0	179.0					9																	131745571		2203	4300	6503	SO:0001630	splice_region_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131745571G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1797-1G>A	9.37:g.131745571G>A						NUP188_uc004bwu.2_5'Flank	p.R599_splice	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			18	1819	+								Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	37	c.1797_splice	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444570	0.63178	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5867	0.91192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP188	130785392	1.000000	0.71417	0.998000	0.56505	0.659000	0.38960	9.182000	0.94881	2.708000	0.92522	0.563000	0.77884	.		PASS	0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Intron	5	225	5	225	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5803317	5803317	+	Missense_Mutation	SNP	G	G	C	rs368195651	byFrequency	TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr10:5803317G>C	ENST00000328090.5	+	19	7682	c.7057G>C	c.(7057-7059)Gaa>Caa	p.E2353Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2353								p.E2353K(1)|p.E2353Q(1)									AAATATCATTGAATTGCTTCA	0.338													G|||	3	0.000599042	0.0023	0.0	5008	,	,		22756	0.0		0.0	False		,,,				2504	0.0					uc001iij.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(7057-7059)GAA>CAA		hypothetical protein LOC54906		G	GLN/GLU	1,3763		0,1,1881	120.0	113.0	115.0		7057	6.1	0.9	10		115	0,8228		0,0,4114	no	missense	FAM208B	NM_017782.4	29	0,1,5995	CC,CG,GG		0.0,0.0266,0.0083	probably-damaging	2353/2431	5803317	1,11991	1882	4114	5996	SO:0001583	missense	54906							g.chr10:5803317G>C	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7057G>C	10.37:g.5803317G>C	ENSP00000328426:p.Glu2353Gln					C10orf18_uc001iik.2_Missense_Mutation_p.E1197Q	p.E2353Q	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			19	7682	+			2353					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.7057G>C	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943793	0.73672	2.66E-4	0.0	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.62232	0.04	6.06	6.06	0.98353	.	0.174016	0.40640	N	0.001046	T	0.81202	0.4773	M	0.80183	2.485	0.38018	D	0.934765	D	0.71674	0.998	D	0.68353	0.957	D	0.83449	0.0047	10	0.72032	D	0.01	.	20.2194	0.98323	0.0:0.0:1.0:0.0	.	2353	Q5VWN6	F208B_HUMAN	Q	2353;1548	ENSP00000328426:E2353Q	ENSP00000328426:E2353Q	E	+	1	0	C10orf18	5843323	1.000000	0.71417	0.870000	0.34147	0.249000	0.25844	7.723000	0.84788	2.879000	0.98667	0.650000	0.86243	GAA		PASS	0.338	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		7	245	7	245	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26310568	26310568	+	Missense_Mutation	SNP	A	A	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr10:26310568A>C	ENST00000265944.5	+	8	888	c.722A>C	c.(721-723)aAa>aCa	p.K241T	MYO3A_ENST00000543632.1_Missense_Mutation_p.K241T|MYO3A_ENST00000376302.1_Missense_Mutation_p.K241T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K241T(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCACTCTTCAAAATACCAAGG	0.507																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(721-723)AAA>ACA		myosin IIIA							125.0	109.0	114.0					10																	26310568		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26310568A>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.722A>C	10.37:g.26310568A>C	ENSP00000265944:p.Lys241Thr					MYO3A_uc009xko.1_Missense_Mutation_p.K241T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.K241T|MYO3A_uc001ism.2_Missense_Mutation_p.K241T	p.K241T	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			8	1082	+			241			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.722A>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	30	5.057100	0.93846	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632	T;T;T	0.64803	-0.12;2.46;-0.12	6.03	6.03	0.97812	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	0.74816	0.3766	L	0.48935	1.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.995;0.999	T	0.76828	-0.2815	10	0.87932	D	0	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	241;241;241;241	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	T	241	ENSP00000265944:K241T;ENSP00000365479:K241T;ENSP00000445909:K241T	ENSP00000265944:K241T	K	+	2	0	MYO3A	26350574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	AAA		PASS	0.507	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		59	133	59	133	---	---	---	---
CCNY	219771	broad.mit.edu	37	10	35854998	35854998	+	Missense_Mutation	SNP	A	A	G	rs201763356		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr10:35854998A>G	ENST00000374704.4	+	9	974	c.794A>G	c.(793-795)aAt>aGt	p.N265S	CCNY_ENST00000339497.5_Missense_Mutation_p.N240S|CCNY_ENST00000374706.1_Missense_Mutation_p.N211S|CCNY_ENST00000265375.9_Missense_Mutation_p.N211S	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	265	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.N211S(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTCAACATCAATGTTCCTTCC	0.483																																						uc001iyw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)AAT>AGT		cyclin Y isoform 1							141.0	126.0	131.0					10																	35854998		2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35854998A>G	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.794A>G	10.37:g.35854998A>G	ENSP00000363836:p.Asn265Ser					CCNY_uc001iyu.3_Missense_Mutation_p.N211S|CCNY_uc001iyv.3_Missense_Mutation_p.N211S|CCNY_uc001iyx.3_Missense_Mutation_p.N211S|CCNY_uc009xmb.2_Missense_Mutation_p.N240S|CCNY_uc010qet.1_Missense_Mutation_p.N132S	p.N265S	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN			9	974	+			265			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.794A>G	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603885	0.87157	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.7	5.7	0.88788	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.47716	1.5	0.80722	D	1	P;D;D	0.89917	0.751;1.0;1.0	P;D;D	0.91635	0.629;0.999;0.999	T	0.00662	-1.1621	10	0.33940	T	0.23	-10.6897	15.9767	0.80071	1.0:0.0:0.0:0.0	.	132;240;265	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	S	211;265;265;240;211;132	ENSP00000363838:N211S;ENSP00000363836:N265S;ENSP00000344275:N240S;ENSP00000265375:N211S	ENSP00000265375:N211S	N	+	2	0	CCNY	35895004	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.299000	0.96137	2.186000	0.69663	0.533000	0.62120	AAT		PASS	0.483	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		75	247	75	247	---	---	---	---
BMPR1A	657	broad.mit.edu	37	10	88672053	88672053	+	Missense_Mutation	SNP	A	A	T	rs141608069		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr10:88672053A>T	ENST00000372037.3	+	8	1124	c.587A>T	c.(586-588)gAt>gTt	p.D196V		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	196					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.D196V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTGGAACAGGATGAAGCATTT	0.358			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	uc001kdy.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	Mis|N|F	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						c.(586-588)GAT>GTT		bone morphogenetic protein receptor, type IA							82.0	79.0	80.0					10																	88672053		2203	4300	6503	SO:0001583	missense	657	Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88672053A>T	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.587A>T	10.37:g.88672053A>T	ENSP00000361107:p.Asp196Val						p.D196V	NM_004329	NP_004320	P36894	BMR1A_HUMAN			8	1135	+			196			Cytoplasmic (Potential).		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.587A>T	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708914	0.48517	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.84370	-1.84	5.21	4.03	0.46877	.	0.133241	0.50627	D	0.000105	D	0.82328	0.5013	M	0.61703	1.905	0.80722	D	1	B	0.20671	0.047	B	0.23852	0.049	T	0.76846	-0.2808	10	0.37606	T	0.19	.	11.449	0.50140	0.8649:0.0:0.0:0.1351	.	196	P36894	BMR1A_HUMAN	V	196	ENSP00000361107:D196V	ENSP00000224764:D196V	D	+	2	0	BMPR1A	88662033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.273000	0.78527	0.861000	0.35504	0.460000	0.39030	GAT		PASS	0.358	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		50	80	50	80	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6191414	6191414	+	Missense_Mutation	SNP	A	A	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:6191414A>T	ENST00000530810.1	-	1	224	c.143T>A	c.(142-144)aTa>aAa	p.I48K	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I48K(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAACCACTATCAGGATGCT	0.498																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(142-144)ATA>AAA		olfactory receptor, family 52, subfamily B,							162.0	161.0	161.0					11																	6191414		2070	4215	6285	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191414A>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.143T>A	11.37:g.6191414A>T	ENSP00000432011:p.Ile48Lys						p.I48K	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	143	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	48			Helical; Name=1; (Potential).		Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.143T>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	A	7.562	0.664915	0.14710	.	.	ENSG00000255307	ENST00000530810	T	0.00457	7.29	5.02	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01029	0.0034	H	0.98487	4.245	0.09310	N	1	B	0.28128	0.201	B	0.19148	0.024	T	0.30707	-0.9969	9	0.87932	D	0	.	8.6955	0.34293	0.8449:0.0:0.1551:0.0	.	48	Q96RD2	O52B2_HUMAN	K	48	ENSP00000432011:I48K	ENSP00000432011:I48K	I	-	2	0	OR52B2	6147990	0.009000	0.17119	0.002000	0.10522	0.196000	0.23810	2.599000	0.46231	0.394000	0.25230	-0.304000	0.09214	ATA		PASS	0.498	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		54	117	54	117	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6265463	6265463	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:6265463C>A	ENST00000379936.2	+	6	1667	c.1552C>A	c.(1552-1554)Ctg>Atg	p.L518M		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	518					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L518M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGCTGAGCTGGAGTCCAG	0.597																																						uc001mco.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1552-1554)CTG>ATG		cyclic nucleotide gated channel alpha 4							80.0	79.0	79.0					11																	6265463		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6265463C>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1552C>A	11.37:g.6265463C>A	ENSP00000369268:p.Leu518Met					CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	p.L518M	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1659	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	518			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.1552C>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927642	0.52759	.	.	ENSG00000132259	ENST00000379936	D	0.97710	-4.5	5.28	3.42	0.39159	.	0.000000	0.64402	D	0.000002	D	0.95114	0.8417	L	0.38838	1.175	0.36685	D	0.879287	B	0.33904	0.431	B	0.38264	0.269	D	0.94332	0.7563	10	0.46703	T	0.11	.	10.7501	0.46205	0.0:0.8448:0.0:0.1552	.	518	Q8IV77	CNGA4_HUMAN	M	518	ENSP00000369268:L518M	ENSP00000369268:L518M	L	+	1	2	CNGA4	6222039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.541000	0.45735	0.812000	0.34326	0.632000	0.83419	CTG		PASS	0.597	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		39	109	39	109	---	---	---	---
OR2AG2	338755	broad.mit.edu	37	11	6789694	6789694	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:6789694G>T	ENST00000338569.2	-	1	592	c.495C>A	c.(493-495)caC>caA	p.H165Q		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H165Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGAAAGGGAGGTGCATAGTGT	0.512																																						uc001meq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(493-495)CAC>CAA		olfactory receptor, family 2, subfamily AG,							121.0	98.0	106.0					11																	6789694		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789694G>T	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.495C>A	11.37:g.6789694G>T	ENSP00000342697:p.His165Gln						p.H165Q	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	495	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	165			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.495C>A	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.818984	0.00595	.	.	ENSG00000188124	ENST00000338569	T	0.00058	8.79	4.36	-3.59	0.04583	GPCR, rhodopsin-like superfamily (1);	0.124811	0.36482	N	0.002562	T	0.00073	0.0002	N	0.04994	-0.135	0.09310	N	1	B	0.14012	0.009	B	0.21360	0.034	T	0.23655	-1.0182	10	0.30078	T	0.28	.	6.1625	0.20372	0.4:0.381:0.219:0.0	.	165	A6NM03	O2AG2_HUMAN	Q	165	ENSP00000342697:H165Q	ENSP00000342697:H165Q	H	-	3	2	OR2AG2	6746270	0.000000	0.05858	0.018000	0.16275	0.017000	0.09413	-3.558000	0.00431	-0.727000	0.04888	-0.140000	0.14226	CAC		PASS	0.512	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		53	95	53	95	---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36522776	36522776	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:36522776G>A	ENST00000526995.1	-	2	536	c.290C>T	c.(289-291)tCa>tTa	p.S97L	TRAF6_ENST00000348124.5_Missense_Mutation_p.S97L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	97	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|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)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S97L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GTACCTTATTGATTTTATGAT	0.423																																						uc001mwr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)TCA>TTA		TNF receptor-associated factor 6							30.0	25.0	27.0					11																	36522776		2202	4297	6499	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36522776G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.290C>T	11.37:g.36522776G>A	ENSP00000433623:p.Ser97Leu					TRAF6_uc001mws.1_Missense_Mutation_p.S97L	p.S97L	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			3	630	-	all_lung(20;0.211)	all_hematologic(20;0.107)	97			Interaction with TAX1BP1.|RING-type.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.290C>T	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738064	0.69304	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.83506	-1.73;-1.73	5.62	5.62	0.85841	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	N	0.11201	0.11	0.80722	D	1	D	0.63880	0.993	P	0.52710	0.707	T	0.72174	-0.4370	10	0.02654	T	1	-17.6743	19.6539	0.95828	0.0:0.0:1.0:0.0	.	97	Q9Y4K3	TRAF6_HUMAN	L	97	ENSP00000433623:S97L;ENSP00000337853:S97L	ENSP00000337853:S97L	S	-	2	0	TRAF6	36479352	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	9.869000	0.99810	2.653000	0.90120	0.467000	0.42956	TCA		PASS	0.423	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		7	19	7	19	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48164469	48164469	+	Splice_Site	SNP	A	A	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:48164469A>G	ENST00000418331.2	+	12	2795		c.e12-1			NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J						contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.?(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gttttgttttAGATCCCCCTC	0.418																																						uc001ngp.3																			2	Unknown(2)		lung(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.e12-2		protein tyrosine phosphatase, receptor type, J							44.0	41.0	42.0					11																	48164469		2201	4298	6499	SO:0001630	splice_region_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48164469A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2444-1A>G	11.37:g.48164469A>G							p.D815_splice	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			12	2799	+								Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Splice_Site	SNP	ENST00000418331.2	37	c.2444_splice	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732656	0.48939	.	.	ENSG00000149177	ENST00000418331	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5793	0.56381	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRJ	48121045	1.000000	0.71417	0.980000	0.43619	0.442000	0.32017	4.881000	0.63114	2.225000	0.72522	0.533000	0.62120	.		PASS	0.418	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		Intron	15	32	15	32	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66472844	66472844	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:66472844C>A	ENST00000533211.1	-	15	2234	c.1903G>T	c.(1903-1905)Gcc>Tcc	p.A635S	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A635S|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A635S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	635					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A635S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCAGCCGGGCCCGCCGCGCC	0.672																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1903-1905)GCC>TCC		spectrin, beta, non-erythrocytic 2							21.0	25.0	24.0					11																	66472844		2174	4255	6429	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472844C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1903G>T	11.37:g.66472844C>A	ENSP00000432568:p.Ala635Ser						p.A635S	NM_006946	NP_008877	O15020	SPTN2_HUMAN			14	1975	-			635			Spectrin 3.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.1903G>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105662	0.37145	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.51817	0.69;0.69;0.69	4.45	4.45	0.53987	.	0.395296	0.25277	N	0.031832	T	0.36386	0.0965	L	0.35414	1.06	0.30308	N	0.788754	B	0.32324	0.364	B	0.35114	0.196	T	0.30765	-0.9967	10	0.22109	T	0.4	.	11.2662	0.49112	0.1831:0.8169:0.0:0.0	.	635	O15020	SPTN2_HUMAN	S	635	ENSP00000432568:A635S;ENSP00000311489:A635S;ENSP00000433593:A635S	ENSP00000311489:A635S	A	-	1	0	SPTBN2	66229420	0.350000	0.24878	0.983000	0.44433	0.720000	0.41350	2.898000	0.48672	2.294000	0.77228	0.491000	0.48974	GCC		PASS	0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		16	46	16	46	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67177085	67177085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:67177085G>T	ENST00000542590.1	+	9	1215	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000312390.5_Nonsense_Mutation_p.E401*			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	401					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.E401*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCCCGGAGGAGCCCAGACC	0.726																																						uc001ola.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1201-1203)GAG>TAG		TBC1 domain family, member 10C							6.0	8.0	8.0					11																	67177085		2087	4080	6167	SO:0001587	stop_gained	374403					intracellular	Rab GTPase activator activity	g.chr11:67177085G>T	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1201G>T	11.37:g.67177085G>T	ENSP00000443654:p.Glu401*					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	p.E401*	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1230	+			401					G3V1D6	Nonsense_Mutation	SNP	ENST00000542590.1	37	c.1201G>T	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199239	0.79015	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	.	.	.	4.91	4.91	0.64330	.	0.000000	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.4649	0.61247	0.0:0.0:1.0:0.0	.	.	.	.	X	401	.	ENSP00000310193:E401X	E	+	1	0	TBC1D10C	66933661	0.237000	0.23815	1.000000	0.80357	0.499000	0.33736	3.150000	0.50662	2.565000	0.86533	0.455000	0.32223	GAG		PASS	0.726	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		7	4	7	4	---	---	---	---
PRCP	5547	broad.mit.edu	37	11	82549495	82549495	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:82549495C>A	ENST00000313010.3	-	8	1402	c.1208G>T	c.(1207-1209)aGg>aTg	p.R403M	PRCP_ENST00000535099.1_Missense_Mutation_p.R298M|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.R424M	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	403					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)	p.R424M(1)|p.R403M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCAGGAGGGCCTTGGTCTCAC	0.408																																						uc001ozs.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1207-1209)AGG>ATG		prolylcarboxypeptidase isoform 1 preproprotein							141.0	126.0	131.0					11																	82549495		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82549495C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1208G>T	11.37:g.82549495C>A	ENSP00000317362:p.Arg403Met					PRCP_uc001ozr.2_Missense_Mutation_p.R424M	p.R403M	NM_005040	NP_005031	P42785	PCP_HUMAN			8	1321	-			403					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1208G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189078	0.78789	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.15017	2.46;2.46;2.46	6.06	5.15	0.70609	.	0.206684	0.49916	D	0.000137	T	0.50069	0.1594	M	0.91300	3.195	0.53688	D	0.999977	D;D	0.71674	0.998;0.996	D;D	0.70016	0.938;0.967	T	0.62590	-0.6822	9	.	.	.	-7.755	15.1502	0.72692	0.0:0.9329:0.0:0.0671	.	403;424	P42785;A8MU24	PCP_HUMAN;.	M	403;424;298	ENSP00000317362:R403M;ENSP00000377055:R424M;ENSP00000442077:R298M	.	R	-	2	0	PRCP	82227143	1.000000	0.71417	0.031000	0.17742	0.878000	0.50629	5.784000	0.68990	1.580000	0.49851	0.655000	0.94253	AGG		PASS	0.408	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		41	114	41	114	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534971	92534971	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:92534971G>T	ENST00000298047.6	+	9	8809	c.8792G>T	c.(8791-8793)gGg>gTg	p.G2931V	FAT3_ENST00000409404.2_Missense_Mutation_p.G2931V|FAT3_ENST00000525166.1_Missense_Mutation_p.G2781V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2931	Cadherin 27. {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.G2931V(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)				GTGTACCGAGGGAATGTGAAG	0.542										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8791-8793)GGG>GTG		FAT tumor suppressor homolog 3							93.0	93.0	93.0					11																	92534971		2022	4189	6211	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534971G>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.8792G>T	11.37:g.92534971G>T	ENSP00000298047:p.Gly2931Val	TCGA Ovarian(4;0.039)					p.G2931V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8809	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2931			Cadherin 27.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8792G>T		.	.	.	.	.	.	.	.	.	.	G	16.73	3.204401	0.58234	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01745	4.66;4.66;4.66	6.04	3.82	0.43975	.	.	.	.	.	T	0.04952	0.0133	L	0.31845	0.965	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	T	0.55964	-0.8057	9	0.41790	T	0.15	.	12.8877	0.58053	0.0709:0.119:0.8102:0.0	.	2931	Q8TDW7-3	.	V	2931;2931;2781	ENSP00000298047:G2931V;ENSP00000387040:G2931V;ENSP00000432586:G2781V	ENSP00000298047:G2931V	G	+	2	0	FAT3	92174619	1.000000	0.71417	0.932000	0.37286	0.724000	0.41520	7.891000	0.87319	1.527000	0.49086	0.563000	0.77884	GGG		PASS	0.542	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		44	132	44	132	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121039502	121039502	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:121039502G>A	ENST00000392793.1	+	20	6138	c.5867G>A	c.(5866-5868)cGa>cAa	p.R1956Q	TECTA_ENST00000264037.2_Missense_Mutation_p.R1956Q			O75443	TECTA_HUMAN	tectorin alpha	1956	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R1956Q(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGACGACTCGAGATGTGCTG	0.483																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(5866-5868)CGA>CAA		tectorin alpha precursor							208.0	195.0	199.0					11																	121039502		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121039502G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5867G>A	11.37:g.121039502G>A	ENSP00000376543:p.Arg1956Gln						p.R1956Q	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	19	5867	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1956			ZP.			Missense_Mutation	SNP	ENST00000392793.1	37	c.5867G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.607990	0.96626	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.83075	-1.68;-1.68	5.94	5.94	0.96194	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000001	D	0.91425	0.7294	M	0.76574	2.34	0.53688	D	0.999976	D	0.89917	1.0	D	0.85130	0.997	D	0.90550	0.4508	10	0.52906	T	0.07	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	1956	O75443	TECTA_HUMAN	Q	1956	ENSP00000376543:R1956Q;ENSP00000264037:R1956Q	ENSP00000264037:R1956Q	R	+	2	0	TECTA	120544712	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	9.434000	0.97515	2.820000	0.97059	0.650000	0.86243	CGA		PASS	0.483	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		58	160	58	160	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128680432	128680432	+	Missense_Mutation	SNP	A	A	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:128680432A>T	ENST00000527786.2	+	9	1397	c.908A>T	c.(907-909)gAg>gTg	p.E303V	FLI1_ENST00000525560.1_Missense_Mutation_p.E110V|FLI1_ENST00000534087.2_Missense_Mutation_p.E270V|FLI1_ENST00000344954.6_Missense_Mutation_p.E270V|FLI1_ENST00000281428.8_Missense_Mutation_p.E237V	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E303V(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ATCACCTGGGAGGGGACCAAC	0.617			T	EWSR1	Ewing sarcoma																																	uc010sbu.1				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	1	Substitution - Missense(1)		lung(1)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(907-909)GAG>GTG		Friend leukemia virus integration 1							19.0	22.0	21.0					11																	128680432		2187	4293	6480	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680432A>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.908A>T	11.37:g.128680432A>T	ENSP00000433488:p.Glu303Val					FLI1_uc010sbt.1_Missense_Mutation_p.E110V|FLI1_uc010sbv.1_Missense_Mutation_p.E270V|FLI1_uc009zci.2_Missense_Mutation_p.E237V	p.E303V	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1249	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	303			ETS.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.908A>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959531	0.74016	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.63	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.216108	0.47852	D	0.000201	T	0.64238	0.2580	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.64193	-0.6465	10	0.48119	T	0.1	.	11.0027	0.47616	0.9273:0.0:0.0727:0.0	.	303;110;237	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	V	110;270;303;270;237	ENSP00000437124:E110V;ENSP00000339627:E270V;ENSP00000399985:E303V;ENSP00000432950:E270V;ENSP00000281428:E237V	ENSP00000281428:E237V	E	+	2	0	FLI1	128185642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.531000	0.81973	2.145000	0.66743	0.477000	0.44152	GAG		PASS	0.617	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		11	20	11	20	---	---	---	---
BCL2L14	79370	broad.mit.edu	37	12	12247859	12247859	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:12247859G>A	ENST00000308721.5	+	5	1146	c.940G>A	c.(940-942)Gga>Aga	p.G314R	BCL2L14_ENST00000266434.4_3'UTR|BCL2L14_ENST00000589718.1_Missense_Mutation_p.G314R|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000586576.1_Missense_Mutation_p.G347R|BCL2L14_ENST00000396367.1_Missense_Mutation_p.G314R	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	314					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.G314R(1)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCAGCACGGTGGATGGGTAAG	0.428																																						uc001rac.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(940-942)GGA>AGA		BCL2-like 14 isoform 1							44.0	40.0	41.0					12																	12247859		2203	4300	6503	SO:0001583	missense	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12247859G>A	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.940G>A	12.37:g.12247859G>A	ENSP00000309132:p.Gly314Arg					ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.G314R|BCL2L14_uc001rae.2_3'UTR	p.G314R	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	5	1141	+		Prostate(47;0.0872)	314			BH2.		A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	c.940G>A	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927400	0.52759	.	.	ENSG00000121380	ENST00000308721;ENST00000396367	T;T	0.59364	0.27;0.27	4.73	4.73	0.59995	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (1);	0.000000	0.64402	D	0.000002	T	0.77068	0.4076	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80650	-0.1288	10	0.87932	D	0	-23.7318	15.9964	0.80250	0.0:0.0:1.0:0.0	.	314	Q9BZR8	B2L14_HUMAN	R	314	ENSP00000309132:G314R;ENSP00000379653:G314R	ENSP00000309132:G314R	G	+	1	0	BCL2L14	12139126	1.000000	0.71417	0.972000	0.41901	0.105000	0.19272	6.592000	0.74095	2.558000	0.86282	0.655000	0.94253	GGA		PASS	0.428	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		34	77	34	77	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14952603	14952603	+	Missense_Mutation	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:14952603C>G	ENST00000261167.2	-	4	389	c.156G>C	c.(154-156)caG>caC	p.Q52H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	52					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.Q52H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTCGGATTATCTGTTTTGGAT	0.413																																						uc001rci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(154-156)CAG>CAC		WW domain binding protein 11							176.0	137.0	150.0					12																	14952603		2201	4299	6500	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14952603C>G	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.156G>C	12.37:g.14952603C>G	ENSP00000261167:p.Gln52His						p.Q52H	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			4	317	-			52					Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.156G>C	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234141	0.79688	.	.	ENSG00000084463	ENST00000261167;ENST00000537574;ENST00000535328	.	.	.	5.44	-2.52	0.06346	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.74258	2.255	0.51233	D	0.999911	D	0.67145	0.996	D	0.79108	0.992	T	0.73864	-0.3848	9	0.87932	D	0	-4.5367	11.4283	0.50025	0.0:0.4816:0.0:0.5184	.	52	Q9Y2W2	WBP11_HUMAN	H	52	.	ENSP00000261167:Q52H	Q	-	3	2	WBP11	14843870	0.961000	0.32948	0.983000	0.44433	0.997000	0.91878	0.140000	0.16056	-0.393000	0.07739	0.655000	0.94253	CAG		PASS	0.413	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		13	64	13	64	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29617471	29617471	+	Silent	SNP	A	A	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:29617471A>G	ENST00000318184.5	-	18	2093	c.2094T>C	c.(2092-2094)tgT>tgC	p.C698C	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	698	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.C698C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CGGTCACAGCACAGATCTCCG	0.443																																						uc001rix.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(2092-2094)TGT>TGC		ovochymase 1 precursor							65.0	64.0	64.0					12																	29617471		1931	4137	6068	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29617471A>G	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2094T>C	12.37:g.29617471A>G							p.C698C	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			18	2094	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		698			Peptidase S1 2.			Silent	SNP	ENST00000318184.5	37	c.2094T>C																																																																																					PASS	0.443	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		28	53	28	53	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32871652	32871652	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:32871652G>A	ENST00000549701.1	+	7	769	c.695G>A	c.(694-696)gGa>gAa	p.G232E	DNM1L_ENST00000381000.4_Missense_Mutation_p.G245E|DNM1L_ENST00000266481.6_Missense_Mutation_p.G232E|DNM1L_ENST00000547312.1_Missense_Mutation_p.G232E|DNM1L_ENST00000358214.5_Missense_Mutation_p.G245E|DNM1L_ENST00000553257.1_Missense_Mutation_p.G245E|DNM1L_ENST00000452533.2_Missense_Mutation_p.G232E|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	232	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.G232E(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTATTGATGGGAAGGGTTATT	0.398																																						uc001rld.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(694-696)GGA>GAA		dynamin 1-like isoform 1							168.0	156.0	160.0					12																	32871652		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32871652G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.695G>A	12.37:g.32871652G>A	ENSP00000450399:p.Gly232Glu					DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_Intron|DNM1L_uc001rle.2_Missense_Mutation_p.G232E|DNM1L_uc001rlf.2_Missense_Mutation_p.G232E|DNM1L_uc010skh.1_Missense_Mutation_p.G298E|DNM1L_uc001rlg.2_Missense_Mutation_p.G298E|DNM1L_uc001rlh.2_Missense_Mutation_p.G285E|DNM1L_uc010ski.1_Intron	p.G232E	NM_012062	NP_036192	O00429	DNM1L_HUMAN			7	856	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		232			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.695G>A	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554095	0.96501	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000381000;ENST00000548750	T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	6.05	6.05	0.98169	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.089312	0.85682	D	0.000000	D	0.92156	0.7513	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.85130	0.997;0.997;0.987;0.997;0.995	D	0.93170	0.6565	10	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	285;285;298;285;232	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	E	232;298;232;245;232;245;232;232;245;203	ENSP00000415131:G232E;ENSP00000449089:G245E;ENSP00000450399:G232E;ENSP00000350948:G245E;ENSP00000266481:G232E;ENSP00000448610:G232E;ENSP00000370388:G245E;ENSP00000447788:G203E	ENSP00000266479:G232E	G	+	2	0	DNM1L	32762919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.545000	0.98095	2.880000	0.98712	0.655000	0.94253	GGA		PASS	0.398	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		78	199	78	199	---	---	---	---
YARS2	51067	broad.mit.edu	37	12	32906869	32906869	+	Silent	SNP	C	C	A	rs147551647	byFrequency	TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:32906869C>A	ENST00000324868.8	-	2	957	c.930G>T	c.(928-930)ccG>ccT	p.P310P		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	310					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.P310P(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CTGAATCGTCCGGTTGCCTGA	0.398																																						uc001rli.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(928-930)CCG>CCT		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						135.0	123.0	127.0					12																	32906869		2203	4300	6503	SO:0001819	synonymous_variant	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32906869C>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.930G>T	12.37:g.32906869C>A							p.P310P	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			2	996	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		310					D3DUW8|Q9H817	Silent	SNP	ENST00000324868.8	37	c.930G>T	CCDS31770.1																																																																																				PASS	0.398	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		80	257	80	257	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400573	78400573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:78400573G>T	ENST00000397909.2	+	8	1428	c.1255G>T	c.(1255-1257)Gaa>Taa	p.E419*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.E419*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E419*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E419*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	419						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.E419*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGCCTTTTCTGAATCTGGTGA	0.498										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1255-1257)GAA>TAA		neuron navigator 3							130.0	129.0	129.0					12																	78400573		1980	4148	6128	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400573G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1255G>T	12.37:g.78400573G>T	ENSP00000381007:p.Glu419*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.E419*	p.E419*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1428	+			419					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.1255G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.516496	0.98332	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.	.	.	5.73	4.84	0.62591	.	0.000000	0.40385	U	0.001107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-21.048	14.4885	0.67634	0.07:0.0:0.93:0.0	.	.	.	.	X	419	.	ENSP00000228327:E419X	E	+	1	0	NAV3	76924704	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.624000	0.98398	1.433000	0.47394	0.650000	0.86243	GAA		PASS	0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		88	142	88	142	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101750711	101750711	+	Silent	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:101750711C>T	ENST00000261637.4	+	43	5716	c.5542C>T	c.(5542-5544)Ctg>Ttg	p.L1848L	snoU13_ENST00000458958.1_RNA	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1848					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L1848L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TAGTATTTTGCTGAAAGTGTG	0.368																																						uc001tia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(5542-5544)CTG>TTG		down-regulated in metastasis							51.0	49.0	50.0					12																	101750711		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101750711C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5542C>T	12.37:g.101750711C>T							p.L1848L	NM_014503	NP_055318	O75691	UTP20_HUMAN			43	5698	+			1848			HEAT 2.		Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.5542C>T	CCDS9081.1																																																																																				PASS	0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		15	60	15	60	---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113531399	113531399	+	Silent	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:113531399C>G	ENST00000257600.3	+	4	1562	c.1059C>G	c.(1057-1059)gcC>gcG	p.A353A	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	353	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A353A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGACGCGGGCCCCCAAGCCCA	0.716																																						uc001tuk.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1057-1059)GCC>GCG		deltex homolog 1							12.0	17.0	15.0					12																	113531399		2188	4277	6465	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113531399C>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1059C>G	12.37:g.113531399C>G							p.A353A	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			4	1395	+			353			Pro-rich.		O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.1059C>G	CCDS9164.1																																																																																				PASS	0.716	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			15	16	15	16	---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133419614	133419614	+	Silent	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr12:133419614C>T	ENST00000432561.2	-	17	2008	c.1935G>A	c.(1933-1935)gtG>gtA	p.V645V	CHFR_ENST00000443047.2_Silent_p.V553V|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000541341.1_Silent_p.V72V|CHFR_ENST00000315585.7_Silent_p.V604V|CHFR_ENST00000537522.1_Silent_p.V267V|CHFR_ENST00000266880.7_Silent_p.V644V|CHFR_ENST00000450056.2_Silent_p.V633V			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	645					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V645V(1)|p.V604V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGTGAGCTTTCACCTGAGTGC	0.527																																						uc001ulf.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1933-1935)GTG>GTA		checkpoint with forkhead and ring finger domains							89.0	71.0	77.0					12																	133419614		2203	4300	6503	SO:0001819	synonymous_variant	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133419614C>T	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1935G>A	12.37:g.133419614C>T						CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.V633V|CHFR_uc010tbs.1_Silent_p.V644V|CHFR_uc001uld.2_Silent_p.V604V|CHFR_uc010tbt.1_Silent_p.V553V	p.V645V	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	17	2019	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	645			PBZ-type.		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	ENST00000432561.2	37	c.1935G>A	CCDS53849.1																																																																																				PASS	0.527	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			5	29	5	29	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681657	70681657	+	Missense_Mutation	SNP	T	T	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr13:70681657T>G	ENST00000377844.4	-	1	934	c.175A>C	c.(175-177)Agc>Cgc	p.S59R	ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	59	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.S59R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTCTTGGCTTTTGAGCAGG	0.617																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)AGC>CGC		kelch-like 1 protein							69.0	79.0	75.0					13																	70681657		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681657T>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.175A>C	13.37:g.70681657T>G	ENSP00000367075:p.Ser59Arg					KLHL1_uc010thm.1_Missense_Mutation_p.S59R|ATXN8OS_uc010aej.1_RNA	p.S59R	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	969	-		Breast(118;0.000162)	59			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.175A>C	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558291	0.45590	.	.	ENSG00000150361	ENST00000377844	T	0.74947	-0.89	5.19	5.19	0.71726	.	9.600610	0.00166	N	0.000000	T	0.74989	0.3789	L	0.50333	1.59	0.80722	D	1	P;B	0.40144	0.704;0.281	B;B	0.36922	0.236;0.104	T	0.62205	-0.6903	10	0.87932	D	0	.	13.6775	0.62462	0.0:0.0:0.0:1.0	.	59;59	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	59	ENSP00000367075:S59R	ENSP00000367075:S59R	S	-	1	0	KLHL1	69579658	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	3.675000	0.54605	1.972000	0.57404	0.529000	0.55759	AGC		PASS	0.617	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		63	49	63	49	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30133053	30133053	+	Missense_Mutation	SNP	T	T	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr14:30133053T>C	ENST00000331968.5	-	4	777	c.548A>G	c.(547-549)aAt>aGt	p.N183S	PRKD1_ENST00000415220.2_Missense_Mutation_p.N183S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	183					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.N183S(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTTATGGTAATTCAGACCACA	0.368																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(547-549)AAT>AGT		protein kinase D1							113.0	117.0	116.0					14																	30133053		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30133053T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.548A>G	14.37:g.30133053T>C	ENSP00000333568:p.Asn183Ser						p.N183S	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	729	-	Hepatocellular(127;0.0604)		183			Phorbol-ester/DAG-type 1.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.548A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679412	0.88542	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.84442	-1.85;-1.85;-1.85	5.77	5.77	0.91146	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	L	0.56396	1.775	0.80722	D	1	D	0.67145	0.996	D	0.66084	0.941	D	0.90630	0.4566	10	0.54805	T	0.06	-32.9323	16.1475	0.81580	0.0:0.0:0.0:1.0	.	183	Q15139	KPCD1_HUMAN	S	183;183;106	ENSP00000333568:N183S;ENSP00000390535:N183S;ENSP00000446866:N106S	ENSP00000333568:N183S	N	-	2	0	PRKD1	29202804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.037000	0.88933	2.213000	0.71641	0.529000	0.55759	AAT		PASS	0.368	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		193	123	193	123	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356395	42356395	+	Silent	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr14:42356395G>A	ENST00000298119.4	+	3	1756	c.567G>A	c.(565-567)ggG>ggA	p.G189G	LRFN5_ENST00000554120.1_Silent_p.G189G|LRFN5_ENST00000554171.1_Silent_p.G189G	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	189						integral component of membrane (GO:0016021)		p.G189G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCCTAAGGGGACCTTCTCCC	0.418										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(565-567)GGG>GGA		leucine rich repeat and fibronectin type III							74.0	64.0	67.0					14																	42356395		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356395G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.567G>A	14.37:g.42356395G>A		HNSCC(30;0.082)				LRFN5_uc010ana.2_Silent_p.G189G	p.G189G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1765	+			189			Extracellular (Potential).|LRR 6.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.567G>A	CCDS9678.1																																																																																				PASS	0.418	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		42	38	42	38	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72138033	72138033	+	Missense_Mutation	SNP	A	A	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr14:72138033A>T	ENST00000555818.1	+	8	2801	c.2453A>T	c.(2452-2454)gAa>gTa	p.E818V	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E818V|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E293V|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E818V	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	818	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.E818V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATCTGGCAGAAAAGAATGTC	0.483																																						uc001xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2452-2454)GAA>GTA		signal-induced proliferation-associated 1 like							93.0	89.0	90.0					14																	72138033		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72138033A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2453A>T	14.37:g.72138033A>T	ENSP00000450832:p.Glu818Val					SIPA1L1_uc001xmt.2_Missense_Mutation_p.E818V|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E818V|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E818V|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E293V	p.E818V	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	2801	+			818			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2453A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738202	0.89573	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.78400	0.4277	M	0.90082	3.085	0.80722	D	1	D;P;D;D;D	0.89917	0.999;0.737;1.0;0.999;0.998	D;B;D;D;D	0.83275	0.996;0.357;0.994;0.986;0.987	T	0.82847	-0.0255	10	0.72032	D	0.01	-28.6079	16.5932	0.84781	1.0:0.0:0.0:0.0	.	293;818;293;818;818	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	V	818;818;818;293	ENSP00000370630:E818V;ENSP00000450832:E818V;ENSP00000351352:E818V;ENSP00000440682:E293V	ENSP00000351352:E818V	E	+	2	0	SIPA1L1	71207786	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.307000	0.96226	2.320000	0.78422	0.528000	0.53228	GAA		PASS	0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		18	76	18	76	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91366504	91366504	+	Missense_Mutation	SNP	A	A	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr14:91366504A>G	ENST00000261991.3	-	11	1500	c.1327T>C	c.(1327-1329)Tgt>Cgt	p.C443R	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.C364R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.C443R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	443	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C443R(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTATGCACACACTTTCGACAA	0.338																																						uc001xys.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1327-1329)TGT>CGT		ribosomal protein S6 kinase, polypeptide 5							90.0	93.0	92.0					14																	91366504		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91366504A>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1327T>C	14.37:g.91366504A>G	ENSP00000261991:p.Cys443Arg					RPS6KA5_uc010twi.1_Missense_Mutation_p.C364R|RPS6KA5_uc001xyt.2_Missense_Mutation_p.C443R	p.C443R	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	11	1542	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	443			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1327T>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827028	0.50739	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.50813	0.73;0.73;0.73	5.96	5.96	0.96718	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	0.70561	0.3238	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.74417	-0.3672	10	0.87932	D	0	.	16.437	0.83878	1.0:0.0:0.0:0.0	.	443;443	O75582-2;O75582	.;KS6A5_HUMAN	R	443;364;443	ENSP00000261991:C443R;ENSP00000442803:C364R;ENSP00000402787:C443R	ENSP00000261991:C443R	C	-	1	0	RPS6KA5	90436257	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	9.253000	0.95501	2.278000	0.76064	0.533000	0.62120	TGT		PASS	0.338	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		7	198	7	198	---	---	---	---
MARK3	4140	broad.mit.edu	37	14	103941438	103941438	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr14:103941438G>T	ENST00000429436.2	+	13	1883	c.1373G>T	c.(1372-1374)aGt>aTt	p.S458I	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.S379I|MARK3_ENST00000416682.2_Missense_Mutation_p.S481I|MARK3_ENST00000553942.1_Missense_Mutation_p.S458I|MARK3_ENST00000303622.9_Missense_Mutation_p.S458I|MARK3_ENST00000216288.7_Missense_Mutation_p.S442I|MARK3_ENST00000335102.5_Missense_Mutation_p.S481I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	458						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S442I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TCAAGTGGCAGTGCTGTTGGA	0.483																																						uc001ymz.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|stomach(1)	4						c.(1372-1374)AGT>ATT		MAP/microtubule affinity-regulating kinase 3							72.0	71.0	71.0					14																	103941438		1948	4149	6097	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103941438G>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1373G>T	14.37:g.103941438G>T	ENSP00000411397:p.Ser458Ile					MARK3_uc001ymx.3_Missense_Mutation_p.S458I|MARK3_uc001ymw.3_Missense_Mutation_p.S458I|MARK3_uc001yna.3_Missense_Mutation_p.S442I|MARK3_uc001ymy.3_Missense_Mutation_p.S379I|MARK3_uc010awp.2_Missense_Mutation_p.S481I|MARK3_uc010tyb.1_Missense_Mutation_p.S253I|MARK3_uc010awq.2_5'UTR	p.S458I	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		13	2039	+		Melanoma(154;0.155)	458					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1373G>T	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.355|9.355	1.066640|1.066640	0.20067|0.20067	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942|ENST00000554627	T;T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94;0.94|.	5.78|5.78	2.88|2.88	0.33553|0.33553	.|.	0.177449|.	0.64402|.	N|.	0.000015|.	T|T	0.42877|0.42877	0.1222|0.1222	L|L	0.35542|0.35542	1.07|1.07	0.45634|0.45634	D|D	0.998563|0.998563	B;B;B;B;B;B;B|.	0.09022|.	0.001;0.0;0.002;0.0;0.0;0.0;0.001|.	B;B;B;B;B;B;B|.	0.15052|.	0.008;0.005;0.012;0.002;0.0;0.003;0.012|.	T|T	0.13176|0.13176	-1.0519|-1.0519	10|5	0.59425|.	D|.	0.04|.	.|.	5.8578|5.8578	0.18730|0.18730	0.0675:0.2445:0.547:0.1411|0.0675:0.2445:0.547:0.1411	.|.	465;481;442;458;379;458;458|.	P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;MARK3_HUMAN;.;.;.|.	I|L	481;107;379;481;458;458;442;458|210	ENSP00000335347:S481I;ENSP00000402104:S379I;ENSP00000408092:S481I;ENSP00000411397:S458I;ENSP00000303698:S458I;ENSP00000216288:S442I;ENSP00000450772:S458I|.	ENSP00000216288:S458I|.	S|V	+|+	2|1	0|0	MARK3|MARK3	103011191|103011191	1.000000|1.000000	0.71417|0.71417	0.569000|0.569000	0.28460|0.28460	0.198000|0.198000	0.23893|0.23893	2.390000|2.390000	0.44416|0.44416	0.322000|0.322000	0.23283|0.23283	-0.976000|-0.976000	0.02587|0.02587	AGT|GTG		PASS	0.483	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		56	33	56	33	---	---	---	---
IGHV1-46	28465	broad.mit.edu	37	14	106967307	106967307	+	RNA	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr14:106967307C>T	ENST00000390622.2	-	0	396									immunoglobulin heavy variable 1-46																		CCCCAGGCTTCTTCACCTCAG	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							88.0	87.0	87.0					14																	106967307		1902	4116	6018			8755							g.chr14:106967307C>T	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967307C>T														201		-									RNA	SNP	ENST00000390622.2	37	c.9134G>A																																																																																					PASS	0.557	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		9	179	9	179	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369231	22369231	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr15:22369231C>A	ENST00000332663.2	+	1	754	c.656C>A	c.(655-657)gCc>gAc	p.A219D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A219D(1)|p.A219V(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGTCCTATGCCTTCCTTCTG	0.478																																						uc010tzu.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(1)	1						c.(655-657)GCC>GAC		olfactory receptor, family 4, subfamily M,							516.0	351.0	407.0					15																	22369231		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369231C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.656C>A	15.37:g.22369231C>A	ENSP00000329467:p.Ala219Asp					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.A219D	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	656	+		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)	219			Helical; Name=5; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.656C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380568	0.42207	.	.	ENSG00000182974	ENST00000332663	T	0.00198	8.57	2.5	0.369	0.16151	GPCR, rhodopsin-like superfamily (1);	0.134922	0.34110	N	0.004251	T	0.00496	0.0016	M	0.93150	3.385	0.31140	N	0.706691	P	0.45126	0.851	P	0.56474	0.799	T	0.23297	-1.0192	10	0.72032	D	0.01	-1.0413	5.0941	0.14723	0.0:0.6475:0.2148:0.1377	.	219	Q8NGB6	OR4M2_HUMAN	D	219	ENSP00000329467:A219D	ENSP00000329467:A219D	A	+	2	0	OR4M2	19870595	0.000000	0.05858	0.996000	0.52242	0.703000	0.40648	-0.258000	0.08733	-0.019000	0.14055	0.448000	0.29417	GCC		PASS	0.478	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			53	543	53	543	---	---	---	---
B2M	567	broad.mit.edu	37	15	45007661	45007661	+	Silent	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr15:45007661G>A	ENST00000558401.1	+	2	178	c.108G>A	c.(106-108)gaG>gaA	p.E36E	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Silent_p.E36E|B2M_ENST00000544417.1_Silent_p.E36E	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	36	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E36E(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATCCAGCAGAGAATGGAAAGT	0.408																																						uc001zuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(106-108)GAG>GAA		beta-2-microglobulin precursor							171.0	173.0	173.0					15																	45007661		2198	4298	6496	SO:0001819	synonymous_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007661G>A	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.108G>A	15.37:g.45007661G>A						B2M_uc010uek.1_Silent_p.E36E|B2M_uc010bdx.1_Silent_p.E36E	p.E36E	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	168	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	36			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Silent	SNP	ENST00000558401.1	37	c.108G>A	CCDS10113.1																																																																																				PASS	0.408	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		31	267	31	267	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99456467	99456467	+	Missense_Mutation	SNP	G	G	A	rs56248469		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr15:99456467G>A	ENST00000268035.6	+	8	2395	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	IGF1R_ENST00000558762.1_Missense_Mutation_p.R595H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	595	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in dbSNP:rs56248469). {ECO:0000269|PubMed:17344846}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.R595H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GACCATATCCGTGGGGCCAAG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20995	0.0		0.001	False		,,,				2504	0.0					uc002bul.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(1783-1785)CGT>CAT		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	G	HIS/ARG	0,4394		0,0,2197	176.0	119.0	138.0		1784	4.7	1.0	15	dbSNP_129	138	9,8585	7.7+/-29.5	0,9,4288	yes	missense	IGF1R	NM_000875.3	29	0,9,6485	AA,AG,GG		0.1047,0.0,0.0693	benign	595/1368	99456467	9,12979	2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456467G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1784G>A	15.37:g.99456467G>A	ENSP00000268035:p.Arg595His					IGF1R_uc010urq.1_Missense_Mutation_p.R595H|IGF1R_uc010bon.2_Missense_Mutation_p.R595H|IGF1R_uc010urr.1_Missense_Mutation_p.R45H	p.R595H	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		8	1834	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		595			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1784G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405530	0.25378	0.0	0.001047	ENSG00000140443	ENST00000268035	T	0.68181	-0.31	4.73	4.73	0.59995	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.109014	0.40554	N	0.001070	T	0.29223	0.0727	N	0.00823	-1.155	0.30106	N	0.807014	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.001	T	0.24404	-1.0161	10	0.15499	T	0.54	.	5.8834	0.18868	0.2295:0.0:0.7705:0.0	rs56248469	595;595	C9J5X1;P08069	.;IGF1R_HUMAN	H	595	ENSP00000268035:R595H	ENSP00000268035:R595H	R	+	2	0	IGF1R	97273990	0.989000	0.36119	0.998000	0.56505	0.992000	0.81027	2.594000	0.46189	2.614000	0.88457	0.563000	0.77884	CGT		PASS	0.557	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		75	214	75	214	---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55719106	55719106	+	Silent	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:55719106G>T	ENST00000379906.2	+	4	951	c.696G>T	c.(694-696)ctG>ctT	p.L232L	SLC6A2_ENST00000568943.1_Silent_p.L232L|SLC6A2_ENST00000567238.1_Silent_p.L127L|SLC6A2_ENST00000414754.3_Silent_p.L232L|SLC6A2_ENST00000561820.1_Silent_p.L232L|SLC6A2_ENST00000219833.8_Silent_p.L232L|SLC6A2_ENST00000566163.1_Silent_p.L232L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	232					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.L232L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACATCGGCCTGCCCCAGTGGC	0.557																																						uc002eif.2																			2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.(694-696)CTG>CTT		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						123.0	111.0	115.0					16																	55719106		2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55719106G>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.696G>T	16.37:g.55719106G>T						SLC6A2_uc010ccd.2_Silent_p.L232L|SLC6A2_uc002eig.2_Silent_p.L232L|SLC6A2_uc002eih.2_Silent_p.L232L|SLC6A2_uc002eii.2_Silent_p.L127L|SLC6A2_uc002eij.2_5'UTR	p.L232L	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	5	807	+			232			Extracellular (Potential).		B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.696G>T	CCDS10754.1																																																																																				PASS	0.557	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			12	42	12	42	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66946299	66946299	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:66946299G>T	ENST00000299752.4	-	12	1587	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	CDH16_ENST00000570262.1_Missense_Mutation_p.P385H|CDH16_ENST00000565796.1_Missense_Mutation_p.P465H|CDH16_ENST00000568632.1_Missense_Mutation_p.P368H|CDH16_ENST00000394055.3_Missense_Mutation_p.P465H	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	465	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P465H(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGTCCCGGGCTCCACATC	0.607																																						uc002eql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1393-1395)CCC>CAC		cadherin 16 precursor							74.0	76.0	75.0					16																	66946299		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946299G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1394C>A	16.37:g.66946299G>T	ENSP00000299752:p.Pro465His					CDH16_uc010cdy.2_Missense_Mutation_p.P465H|CDH16_uc002eqm.2_Missense_Mutation_p.P368H	p.P465H	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	12	1467	-		Ovarian(137;0.0563)	465			Extracellular (Potential).|Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1394C>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385014	0.61956	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.61392	0.11;0.11	4.82	4.82	0.62117	Cadherin (3);Cadherin-like (1);	0.381516	0.27280	N	0.020094	T	0.73289	0.3568	M	0.76574	2.34	0.41384	D	0.987578	D;D;D	0.76494	0.993;0.999;0.998	P;D;D	0.67382	0.73;0.951;0.918	T	0.76743	-0.2847	10	0.72032	D	0.01	-6.615	13.2823	0.60222	0.0:0.0:1.0:0.0	.	465;465;465	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	H	465;465;429	ENSP00000377619:P465H;ENSP00000299752:P465H	ENSP00000299752:P465H	P	-	2	0	CDH16	65503800	0.995000	0.38212	0.428000	0.26697	0.726000	0.41606	3.712000	0.54875	2.526000	0.85167	0.561000	0.74099	CCC		PASS	0.607	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		105	53	105	53	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71319357	71319357	+	Missense_Mutation	SNP	T	T	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:71319357T>G	ENST00000338099.5	-	3	803	c.467A>C	c.(466-468)cAc>cCc	p.H156P	CMTR2_ENST00000434935.2_Missense_Mutation_p.H156P			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	156	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.H156P(1)									TTTTAAGTAGTGGTTGAGACT	0.413																																						uc010cga.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(466-468)CAC>CCC		FtsJ methyltransferase domain containing 1							107.0	105.0	105.0					16																	71319357		2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319357T>G	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.467A>C	16.37:g.71319357T>G	ENSP00000337512:p.His156Pro					FTSJD1_uc002ezy.3_Missense_Mutation_p.H156P|FTSJD1_uc002ezz.3_Missense_Mutation_p.H156P	p.H156P	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	873	-			156					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.467A>C	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222735	0.58668	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.29917	1.55;1.55	5.56	5.56	0.83823	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72004	-0.4421	10	0.87932	D	0	-15.6244	14.9098	0.70746	0.0:0.0:0.0:1.0	.	156	Q8IYT2	FTSJ1_HUMAN	P	156	ENSP00000337512:H156P;ENSP00000411148:H156P	ENSP00000337512:H156P	H	-	2	0	FTSJD1	69876858	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	2.114000	0.64651	0.459000	0.35465	CAC		PASS	0.413	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		177	112	177	112	---	---	---	---
AP1G1	164	broad.mit.edu	37	16	71795457	71795457	+	Missense_Mutation	SNP	T	T	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:71795457T>C	ENST00000299980.4	-	10	1373	c.932A>G	c.(931-933)aAt>aGt	p.N311S	AP1G1_ENST00000433195.2_Missense_Mutation_p.N334S|AP1G1_ENST00000393512.3_Missense_Mutation_p.N314S|AP1G1_ENST00000569748.1_Missense_Mutation_p.N311S|AP1G1_ENST00000423132.2_Missense_Mutation_p.N314S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	311					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.N311S(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACCCAGGATATTTATGGCTAG	0.328																																						uc010cgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(931-933)AAT>AGT		adaptor-related protein complex 1, gamma 1							86.0	94.0	91.0					16																	71795457		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71795457T>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.932A>G	16.37:g.71795457T>C	ENSP00000299980:p.Asn311Ser					AP1G1_uc002fba.2_Missense_Mutation_p.N314S|AP1G1_uc002fbb.2_Missense_Mutation_p.N334S|AP1G1_uc010vmg.1_RNA	p.N311S	NM_001128	NP_001119	O43747	AP1G1_HUMAN			10	1246	-		Ovarian(137;0.125)	311					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.932A>G	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905884	0.72868	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.7	5.7	0.88788	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.91612	3.225	0.80722	D	1	B;P;D	0.89917	0.382;0.559;1.0	B;B;D	0.85130	0.209;0.331;0.997	T	0.56715	-0.7933	10	0.52906	T	0.07	-14.6838	15.9645	0.79956	0.0:0.0:0.0:1.0	.	311;334;314	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	S	311;314;314;334;182;396	ENSP00000299980:N311S;ENSP00000377148:N314S;ENSP00000409153:N314S;ENSP00000403259:N334S	ENSP00000299980:N311S	N	-	2	0	AP1G1	70352958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.054000	0.76649	2.174000	0.68829	0.533000	0.62120	AAT		PASS	0.328	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			67	161	67	161	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72142486	72142486	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:72142486C>A	ENST00000268482.3	+	23	3744	c.3235C>A	c.(3235-3237)Cac>Aac	p.H1079N	DHX38_ENST00000536867.1_Missense_Mutation_p.H391N	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1079					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.H1079N(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGCCTATTTCCACCAAGCAGC	0.557																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3235-3237)CAC>AAC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							68.0	57.0	61.0					16																	72142486		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72142486C>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3235C>A	16.37:g.72142486C>A	ENSP00000268482:p.His1079Asn					DHX38_uc010vmp.1_Missense_Mutation_p.H391N	p.H1079N	NM_014003	NP_054722	Q92620	PRP16_HUMAN			23	3590	+		Ovarian(137;0.125)	1079					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.3235C>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218170	0.95104	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02552	4.25;4.25	5.67	5.67	0.87782	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.13372	0.0324	M	0.62016	1.91	0.80722	D	1	D;P	0.63046	0.992;0.771	D;B	0.63703	0.917;0.3	T	0.00094	-1.2079	10	0.52906	T	0.07	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	391;1079	B4DVG8;Q92620	.;PRP16_HUMAN	N	1079;391	ENSP00000268482:H1079N;ENSP00000437898:H391N	ENSP00000268482:H1079N	H	+	1	0	DHX38	70699987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.264000	0.78432	2.677000	0.91161	0.655000	0.94253	CAC		PASS	0.557	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		3	54	3	54	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76501333	76501333	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:76501333G>A	ENST00000476707.1	+	9	1716	c.1577G>A	c.(1576-1578)gGc>gAc	p.G526D	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G522D|SNORD33_ENST00000516213.1_RNA|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G450D|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G474D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	523	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.G522D(1)|p.G498D(1)|p.G450D(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCTATCAGCGGCAAAGTGGTA	0.443																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1567-1569)GGC>GAC		cell recognition protein CASPR4 isoform 1							132.0	121.0	124.0					16																	76501333		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76501333G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1577G>A	16.37:g.76501333G>A	ENSP00000417628:p.Gly526Asp					CNTNAP4_uc002fev.1_Missense_Mutation_p.G387D|CNTNAP4_uc010chb.1_Missense_Mutation_p.G450D|CNTNAP4_uc002fex.1_Missense_Mutation_p.G526D|CNTNAP4_uc002few.2_Missense_Mutation_p.G498D	p.G523D	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			12	1953	+			523			Extracellular (Potential).|Laminin G-like 2.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.280523	0.00254	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.42	1.93	0.25924	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.878048	0.09552	N	0.786769	T	0.41696	0.1170	.	.	.	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.15052	0.002;0.012;0.002;0.001	T	0.32402	-0.9908	9	0.02654	T	1	.	5.3123	0.15837	0.6354:0.138:0.2266:0.0	.	450;526;498;523	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	D	522;474;450;526	ENSP00000306893:G522D;ENSP00000439733:G474D;ENSP00000418741:G450D;ENSP00000417628:G526D	ENSP00000306893:G522D	G	+	2	0	CNTNAP4	75058834	0.040000	0.19996	0.000000	0.03702	0.004000	0.04260	1.229000	0.32600	0.141000	0.18875	-0.312000	0.09012	GGC		PASS	0.443	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		4	53	4	53	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76532475	76532475	+	Missense_Mutation	SNP	C	C	A	rs368916686		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:76532475C>A	ENST00000476707.1	+	14	2397	c.2258C>A	c.(2257-2259)aCt>aAt	p.T753N	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.T749N|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T677N|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T701N			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	750	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.T749N(1)|p.T677N(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACCAATGACACTGGATTGCTT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		18039	0.0		0.0	False		,,,				2504	0.001					uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2248-2250)ACT>AAT		cell recognition protein CASPR4 isoform 1							80.0	74.0	76.0					16																	76532475		1945	4191	6136	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76532475C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2258C>A	16.37:g.76532475C>A	ENSP00000417628:p.Thr753Asn					CNTNAP4_uc002fev.1_Missense_Mutation_p.T614N|CNTNAP4_uc010chb.1_Missense_Mutation_p.T677N|CNTNAP4_uc002fex.1_Missense_Mutation_p.T753N	p.T750N	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			17	2634	+			750			Extracellular (Potential).|Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2249C>A		.	.	.	.	.	.	.	.	.	.	C	22.3	4.268199	0.80469	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.93	4.93	0.64822	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.42964	D	0.000640	T	0.38108	0.1028	.	.	.	0.50467	D	0.999874	D;D;D	0.71674	0.991;0.996;0.998	D;D;D	0.65987	0.937;0.909;0.94	T	0.16482	-1.0401	9	0.72032	D	0.01	.	18.3086	0.90190	0.0:1.0:0.0:0.0	.	677;753;750	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	N	749;701;677;753	ENSP00000306893:T749N;ENSP00000439733:T701N;ENSP00000418741:T677N;ENSP00000417628:T753N	ENSP00000306893:T749N	T	+	2	0	CNTNAP4	75089976	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.854000	0.69503	2.724000	0.93272	0.650000	0.86243	ACT		PASS	0.373	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		28	41	28	41	---	---	---	---
ZNF276	92822	broad.mit.edu	37	16	89789138	89789138	+	Silent	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:89789138C>G	ENST00000443381.2	+	2	502	c.405C>G	c.(403-405)gtC>gtG	p.V135V	ZNF276_ENST00000568064.1_Silent_p.V60V|ZNF276_ENST00000289816.5_Silent_p.V60V|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000446326.2_5'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	135	ZAD.				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.V60V(1)|p.V135V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCGTTTGTCTGCAAGAGCT	0.642																																						uc002fos.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(403-405)GTC>GTG		zinc finger protein 276 isoform a							68.0	63.0	65.0					16																	89789138		2198	4299	6497	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789138C>G	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.405C>G	16.37:g.89789138C>G						C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.V60V|ZNF276_uc002foq.3_Silent_p.V60V|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.V135V	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	502	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	135			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.405C>G	CCDS45554.1																																																																																				PASS	0.642	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		44	115	44	115	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89838110	89838110	+	Silent	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr16:89838110C>A	ENST00000389301.3	-	23	2157	c.2127G>T	c.(2125-2127)ccG>ccT	p.P709P	FANCA_ENST00000568369.1_Silent_p.P709P|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	709					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P709P(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCTCCAGTCTCGGCGTGTTGA	0.527			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(2125-2127)CCG>CCT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							174.0	143.0	154.0					16																	89838110		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89838110C>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2127G>T	16.37:g.89838110C>A						FANCA_uc010vpn.1_Silent_p.P709P	p.P709P	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	23	2169	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	709					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.2127G>T	CCDS32515.1																																																																																				PASS	0.527	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			86	156	86	156	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM035576	TP53	M		c.(700-702)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							119.0	95.0	103.0					17																	7577580		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.chr17:7577580T>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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	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.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C	p.Y234C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	37	34	37	---	---	---	---
FLOT2	2319	broad.mit.edu	37	17	27208211	27208211	+	Splice_Site	SNP	T	T	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr17:27208211T>A	ENST00000394908.4	-	9	1201	c.1097A>T	c.(1096-1098)cAg>cTg	p.Q366L	FLOT2_ENST00000585169.1_Splice_Site_p.Q366L|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394906.2_Splice_Site_p.Q421L	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	366					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q366L(1)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AAGCCTCACCTGGGGCAGGGC	0.587																																						uc002hdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)CAG>CTG		flotillin 2							38.0	44.0	42.0					17																	27208211		2008	4180	6188	SO:0001630	splice_region_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208211T>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1098+1A>T	17.37:g.27208211T>A							p.Q366L	NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		9	1220	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		366						Missense_Mutation	SNP	ENST00000394908.4	37	c.1097A>T	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557438	0.45590	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.35421	1.31;1.31	5.62	3.09	0.35607	.	0.468547	0.25708	N	0.028831	T	0.22820	0.0551	N	0.25144	0.715	0.54753	D	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.04593	-1.0940	10	0.42905	T	0.14	-11.2561	8.8013	0.34909	0.0:0.0795:0.1348:0.7857	.	366	Q14254	FLOT2_HUMAN	L	421;366	ENSP00000378366:Q421L;ENSP00000378368:Q366L	ENSP00000378366:Q421L	Q	-	2	0	FLOT2	24232337	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.111000	0.57838	0.899000	0.36444	0.459000	0.35465	CAG		PASS	0.587	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475	Missense_Mutation	9	29	9	29	---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30320963	30320963	+	Missense_Mutation	SNP	G	G	A	rs371166327		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr17:30320963G>A	ENST00000322652.5	+	12	1602	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	SUZ12_ENST00000580398.1_Missense_Mutation_p.R435H	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	458					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R458H(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTGAACTGCCGCAAACTTTAT	0.323			T	JAZF1	endometrial stromal tumours								.|||	0	0.0	0.0	0.0	5008	,	,		14901	0.0		0.0	False		,,,				2504	0.0					uc002hgs.2				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	1	Substitution - Missense(1)		lung(1)	soft_tissue(98)|endometrium(33)	131						c.(1372-1374)CGC>CAC		joined to JAZF1							99.0	93.0	95.0					17																	30320963		2203	4300	6503	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30320963G>A	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1373G>A	17.37:g.30320963G>A	ENSP00000316578:p.Arg458His					SUZ12_uc002hgt.2_Missense_Mutation_p.R435H	p.R458H	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			12	1595	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	458			C2H2-type.		Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1373G>A	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	g	13.88	2.369628	0.42003	.	.	ENSG00000178691	ENST00000322652	T	0.46063	0.88	5.38	2.24	0.28232	Zinc finger, C2H2-like (1);	0.097634	0.64402	D	0.000001	T	0.38904	0.1058	L	0.47716	1.5	0.42572	D	0.993189	D;B	0.61697	0.99;0.002	P;B	0.48270	0.572;0.001	T	0.16364	-1.0405	10	0.41790	T	0.15	-0.247	9.0131	0.36153	0.1357:0.121:0.7433:0.0	.	458;458	A8K1U9;Q15022	.;SUZ12_HUMAN	H	458	ENSP00000316578:R458H	ENSP00000316578:R458H	R	+	2	0	SUZ12	27345076	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.764000	0.98949	0.651000	0.30788	0.644000	0.83932	CGC		PASS	0.323	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		5	199	5	199	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61907223	61907223	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr17:61907223C>T	ENST00000310144.6	+	4	486	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	PSMC5_ENST00000580864.1_Missense_Mutation_p.R52W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R52W|FTSJ3_ENST00000427159.2_5'Flank|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000581882.1_Missense_Mutation_p.R52W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	60			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R60W(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TCGCCTATTGCGGGAGGAGCT	0.522																																						uc002jcb.2																			1	Substitution - Missense(1)	p.R60Q(1)	lung(1)	large_intestine(1)	1						c.(178-180)CGG>TGG		proteasome 26S ATPase subunit 5							70.0	70.0	70.0					17																	61907223		2203	4300	6503	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61907223C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.178C>T	17.37:g.61907223C>T	ENSP00000310572:p.Arg60Trp					FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.R37W|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.R52W|PSMC5_uc002jcd.2_Missense_Mutation_p.R52W	p.R60W	NM_002805	NP_002796	P62195	PRS8_HUMAN			4	219	+			60		R -> Q (in a colorectal cancer sample; somatic mutation).			A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.178C>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518570	0.85495	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.45276	0.9;0.9	5.13	5.13	0.70059	.	0.052376	0.85682	D	0.000000	T	0.66297	0.2775	M	0.91196	3.185	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61132	0.677;0.884	T	0.73414	-0.3990	10	0.87932	D	0	.	11.0663	0.47976	0.1848:0.8152:0.0:0.0	.	52;60	A8K3Z3;P62195	.;PRS8_HUMAN	W	60;52	ENSP00000310572:R60W;ENSP00000364970:R52W	ENSP00000310572:R60W	R	+	1	2	PSMC5	59260955	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.709000	0.54853	2.661000	0.90470	0.655000	0.94253	CGG		PASS	0.522	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		37	86	37	86	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8113488	8113488	+	Missense_Mutation	SNP	T	T	C			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr18:8113488T>C	ENST00000332175.8	+	12	2898	c.1861T>C	c.(1861-1863)Tat>Cat	p.Y621H	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.Y621H|PTPRM_ENST00000400053.4_Missense_Mutation_p.Y559H|PTPRM_ENST00000444013.1_Missense_Mutation_p.Y408H|PTPRM_ENST00000400060.4_Missense_Mutation_p.Y621H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	621	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y621H(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTCTAGTGTCTATCAAATAGT	0.393																																						uc002knn.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1861-1863)TAT>CAT		protein tyrosine phosphatase, receptor type, M							69.0	68.0	68.0					18																	8113488		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8113488T>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1861T>C	18.37:g.8113488T>C	ENSP00000331418:p.Tyr621His					PTPRM_uc010dkv.2_Missense_Mutation_p.Y621H|PTPRM_uc010wzl.1_Missense_Mutation_p.Y408H	p.Y621H	NM_002845	NP_002836	P28827	PTPRM_HUMAN			12	2364	+		Colorectal(10;0.234)	621			Fibronectin type-III 4.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1861T>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717358	0.89205	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.71817	-0.23;-0.33;-0.43;-0.6	5.84	5.84	0.93424	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.991;0.991	D	0.87026	0.2132	10	0.87932	D	0	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	408;621;621	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	H	621;621;559;408	ENSP00000331418:Y621H;ENSP00000382933:Y621H;ENSP00000382927:Y559H;ENSP00000387608:Y408H	ENSP00000331418:Y621H	Y	+	1	0	PTPRM	8103488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.230000	0.72887	0.528000	0.53228	TAT		PASS	0.393	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			29	142	29	142	---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31599521	31599521	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr18:31599521G>A	ENST00000261592.5	-	6	1114	c.817C>T	c.(817-819)Cac>Tac	p.H273Y	NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000269185.4_Missense_Mutation_p.H159Y|NOL4_ENST00000589544.1_Missense_Mutation_p.H273Y|NOL4_ENST00000538587.1_Missense_Mutation_p.H199Y|NOL4_ENST00000535475.1_Missense_Mutation_p.H118Y	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	273						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.H273Y(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATTGAACTGTGCCCCAGAGTC	0.438																																						uc010dmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(817-819)CAC>TAC		nucleolar protein 4							114.0	106.0	109.0					18																	31599521		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31599521G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.817C>T	18.37:g.31599521G>A	ENSP00000261592:p.His273Tyr					NOL4_uc010xbs.1_5'UTR|NOL4_uc002kxr.3_Missense_Mutation_p.H109Y|NOL4_uc010xbt.1_Missense_Mutation_p.H199Y|NOL4_uc010dmh.2_Missense_Mutation_p.H199Y|NOL4_uc010xbu.1_Missense_Mutation_p.H273Y|NOL4_uc002kxt.3_Missense_Mutation_p.H273Y|NOL4_uc010xbv.1_Missense_Mutation_p.H22Y|NOL4_uc010xbw.1_Missense_Mutation_p.H159Y	p.H273Y	NM_003787	NP_003778	O94818	NOL4_HUMAN			6	1046	-			273					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.817C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	6.287	0.420986	0.11928	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535475;ENST00000538587	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.61	5.61	0.85477	.	0.246394	0.35936	N	0.002895	T	0.75895	0.3912	L	0.29908	0.895	0.32372	N	0.555751	B;P;B;P;B;B	0.40731	0.029;0.512;0.168;0.728;0.118;0.087	B;B;B;B;B;B	0.35353	0.039;0.184;0.086;0.201;0.039;0.045	T	0.80830	-0.1207	10	0.48119	T	0.1	-4.8446	19.6551	0.95832	0.0:0.0:1.0:0.0	.	159;22;199;273;273;118	B4DLW2;F8W825;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;.;NOL4_HUMAN;.;.	Y	273;159;22;118;199	ENSP00000261592:H273Y;ENSP00000269185:H159Y;ENSP00000438190:H118Y;ENSP00000443472:H199Y	ENSP00000261592:H273Y	H	-	1	0	NOL4	29853519	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.470000	0.66756	2.650000	0.89964	0.637000	0.83480	CAC		PASS	0.438	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		39	106	39	106	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530539	42530539	+	Missense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr18:42530539G>T	ENST00000282030.5	+	4	1530	c.1234G>T	c.(1234-1236)Gat>Tat	p.D412Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	412						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D358Y(1)|p.D412Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCCTCTCTGGATCCAACCAA	0.483									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1234-1236)GAT>TAT		SET binding protein 1 isoform a							55.0	56.0	55.0					18																	42530539		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530539G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1234G>T	18.37:g.42530539G>T	ENSP00000282030:p.Asp412Tyr						p.D412Y	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1530	+			412					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1234G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814485	0.70912	.	.	ENSG00000152217	ENST00000282030	T	0.36878	1.23	5.78	5.78	0.91487	.	0.051083	0.85682	D	0.000000	T	0.50650	0.1628	L	0.29908	0.895	0.45515	D	0.998471	D	0.89917	1.0	D	0.68943	0.961	T	0.46470	-0.9189	10	0.56958	D	0.05	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	412	Q9Y6X0	SETBP_HUMAN	Y	412	ENSP00000282030:D412Y	ENSP00000282030:D412Y	D	+	1	0	SETBP1	40784537	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.472000	0.80996	2.894000	0.99253	0.655000	0.94253	GAT		PASS	0.483	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		30	74	30	74	---	---	---	---
ST8SIA5	29906	broad.mit.edu	37	18	44284606	44284606	+	Silent	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr18:44284606C>A	ENST00000315087.7	-	2	813	c.153G>T	c.(151-153)ggG>ggT	p.G51G	ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Silent_p.G87G|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	51					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.G51G(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATTCAAAAGGCCCCTCATAAA	0.512																																						uc002lcj.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(151-153)GGG>GGT		ST8 alpha-N-acetyl-neuraminide							122.0	117.0	119.0					18																	44284606		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44284606C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.153G>T	18.37:g.44284606C>A						ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc010xcy.1_Silent_p.G87G|ST8SIA5_uc010xcz.1_Intron|ST8SIA5_uc010dno.1_Silent_p.G87G	p.G51G	NM_013305	NP_037437	O15466	SIA8E_HUMAN			2	721	-			51			Lumenal (Potential).		B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.153G>T	CCDS11930.1																																																																																				PASS	0.512	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		79	177	79	177	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59221438	59221438	+	Missense_Mutation	SNP	T	T	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr18:59221438T>A	ENST00000262717.4	+	12	2314	c.1916T>A	c.(1915-1917)aTt>aAt	p.I639N	CDH20_ENST00000538374.1_Missense_Mutation_p.I639N|CDH20_ENST00000536675.2_Missense_Mutation_p.I639N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	639					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I639N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGTTGCTCATTTTGTCCATG	0.542																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1915-1917)ATT>AAT		cadherin 20, type 2 preproprotein							87.0	77.0	81.0					18																	59221438		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221438T>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1916T>A	18.37:g.59221438T>A	ENSP00000262717:p.Ile639Asn					CDH20_uc002lif.2_Missense_Mutation_p.I633N	p.I639N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			11	1928	+		Colorectal(73;0.186)	639			Helical; (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1916T>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.498115	0.44455	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.37584	1.19;1.19;1.19	5.01	5.01	0.66863	.	0.142261	0.64402	D	0.000006	T	0.42877	0.1222	M	0.67397	2.05	0.53005	D	0.999963	P	0.40332	0.713	B	0.42062	0.374	T	0.48258	-0.9051	10	0.66056	D	0.02	.	15.1836	0.72982	0.0:0.0:0.0:1.0	.	639	Q9HBT6	CAD20_HUMAN	N	639	ENSP00000444767:I639N;ENSP00000442226:I639N;ENSP00000262717:I639N	ENSP00000262717:I639N	I	+	2	0	CDH20	57372418	1.000000	0.71417	0.933000	0.37362	0.949000	0.60115	5.963000	0.70372	2.243000	0.73865	0.533000	0.62120	ATT		PASS	0.542	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		55	85	55	85	---	---	---	---
ZNF136	7695	broad.mit.edu	37	19	12298583	12298583	+	Silent	SNP	C	C	A	rs149571290		TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr19:12298583C>A	ENST00000343979.4	+	4	1530	c.1390C>A	c.(1390-1392)Cga>Aga	p.R464R	ZNF136_ENST00000398616.2_Silent_p.R398R	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	464					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R464R(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CAACTCCTTTCGAACACATGA	0.393																																						uc002mti.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1390-1392)CGA>AGA		zinc finger protein 136							72.0	68.0	69.0					19																	12298583		2203	4300	6503	SO:0001819	synonymous_variant	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298583C>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1390C>A	19.37:g.12298583C>A						ZNF136_uc010xmh.1_Silent_p.R398R	p.R464R	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	1490	+			464			C2H2-type 12.			Silent	SNP	ENST00000343979.4	37	c.1390C>A	CCDS32916.1																																																																																				PASS	0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		3	87	3	87	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17476990	17476990	+	Silent	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr19:17476990G>A	ENST00000252590.4	-	2	445	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	128					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.N128N(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTCTGATTGTTCGTGTAGA	0.537																																						uc002ngk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)AAC>AAT		plasmalemma vesicle associated protein							206.0	180.0	188.0					19																	17476990		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476990G>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.384C>T	19.37:g.17476990G>A							p.N128N	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			2	434	-			128			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.384C>T	CCDS32952.1																																																																																				PASS	0.537	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		34	213	34	213	---	---	---	---
LRRC25	126364	broad.mit.edu	37	19	18507431	18507431	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr19:18507431C>T	ENST00000339007.3	-	1	996	c.343G>A	c.(343-345)Gac>Aac	p.D115N	LRRC25_ENST00000595840.1_Missense_Mutation_p.D115N	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	115						integral component of membrane (GO:0016021)		p.D115N(1)		endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CAGTTGCAGTCGGCCTGCAGG	0.632																																						uc002niw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)GAC>AAC		leucine rich repeat containing 25 precursor							48.0	50.0	49.0					19																	18507431		2203	4300	6503	SO:0001583	missense	126364					integral to membrane		g.chr19:18507431C>T	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.343G>A	19.37:g.18507431C>T	ENSP00000340983:p.Asp115Asn					LRRC25_uc002nix.2_Missense_Mutation_p.D115N	p.D115N	NM_145256	NP_660299	Q8N386	LRC25_HUMAN			1	985	-			115			Extracellular (Potential).		Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.343G>A	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242639	0.39598	.	.	ENSG00000175489	ENST00000339007	T	0.48522	0.81	4.19	4.19	0.49359	.	0.000000	0.49305	D	0.000145	T	0.60392	0.2265	L	0.52573	1.65	0.35918	D	0.831625	D	0.89917	1.0	D	0.70016	0.967	T	0.70274	-0.4917	10	0.72032	D	0.01	-27.4134	12.7232	0.57154	0.0:1.0:0.0:0.0	.	115	Q8N386	LRC25_HUMAN	N	115	ENSP00000340983:D115N	ENSP00000340983:D115N	D	-	1	0	LRRC25	18368431	0.761000	0.28439	0.894000	0.35097	0.011000	0.07611	1.022000	0.30052	2.273000	0.75805	0.491000	0.48974	GAC		PASS	0.632	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		28	49	28	49	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53668050	53668050	+	Missense_Mutation	SNP	T	T	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr19:53668050T>G	ENST00000600412.1	-	2	1613	c.1498A>C	c.(1498-1500)Act>Cct	p.T500P	ZNF665_ENST00000396424.3_Missense_Mutation_p.T565P|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	500					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.T500P(1)|p.T565P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCTCACCAGTGTGAATTCTC	0.393																																						uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1693-1695)ACT>CCT		zinc finger protein 665							122.0	129.0	126.0					19																	53668050		2202	4300	6502	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668050T>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1498A>C	19.37:g.53668050T>G	ENSP00000469154:p.Thr500Pro						p.T565P	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1793	-			500					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1693A>C		.	.	.	.	.	.	.	.	.	.	T	15.21	2.765957	0.49574	.	.	ENSG00000197497	ENST00000396424	T	0.25749	1.78	2.44	0.129	0.14739	.	.	.	.	.	T	0.42063	0.1186	M	0.80746	2.51	0.18873	N	0.999988	P	0.40360	0.714	P	0.54706	0.759	T	0.37619	-0.9698	9	0.72032	D	0.01	.	4.3408	0.11108	0.0:0.1224:0.2017:0.676	.	565	Q9H7R5-2	.	P	565	ENSP00000379702:T565P	ENSP00000379702:T565P	T	-	1	0	ZNF665	58359862	0.864000	0.29904	0.000000	0.03702	0.007000	0.05969	1.941000	0.40233	-0.180000	0.10637	0.443000	0.29094	ACT		PASS	0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		41	148	41	148	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54745537	54745537	+	Silent	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr19:54745537C>T	ENST00000396365.2	-	4	612	c.573G>A	c.(571-573)agG>agA	p.R191R	LILRA6_ENST00000270464.5_Silent_p.R191R|LILRA6_ENST00000419410.2_Silent_p.R191R|LILRA6_ENST00000440558.2_Silent_p.R191R|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.R191R|LILRA6_ENST00000391735.3_Splice_Site	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	191					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R191R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAACCTCCACCTGTGGCTGG	0.632																																						uc002qej.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.e4+1		Synthetic construct DNA, clone: pF1KB7252, Homo sapiens LILRA6 gene for leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6, without stop codon, in Flexi system.							21.0	25.0	24.0					19																	54745537		1832	3834	5666	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54745537C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.573G>A	19.37:g.54745537C>T						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Silent_p.R191R|LILRA6_uc002qek.1_Silent_p.R191R|LILRB3_uc010erh.1_Intron|LILRA6_uc002qel.1_Silent_p.R191R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Silent_p.R191R|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.R191R|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.R191R|LILRA6_uc010yep.1_Silent_p.R191R|LILRA6_uc010yeq.1_Silent_p.R191R|LILRA6_uc002qet.3_Splice_Site|LILRA6_uc002qeu.1_Silent_p.R191R|LILRA6_uc002qev.1_Silent_p.R52R				O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4		-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Splice_Site	SNP	ENST00000396365.2	37	c.696_splice	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	c	4.851	0.158200	0.09236	.	.	ENSG00000244482	ENST00000391735	.	.	.	2.64	-1.37	0.09056	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0267	0.01529	0.233:0.3877:0.2289:0.1504	.	.	.	.	.	-1	.	.	.	-	.	.	LILRA6	59437349	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.154000	0.03166	-0.150000	0.11195	0.162000	0.16502	.		PASS	0.632	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		39	36	39	36	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024614	31024614	+	Missense_Mutation	SNP	G	G	A	rs147456014	byFrequency	TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr20:31024614G>A	ENST00000375687.4	+	13	4523	c.4099G>A	c.(4099-4101)Gtc>Atc	p.V1367I	ASXL1_ENST00000306058.5_Missense_Mutation_p.V1362I	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1367					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V1367I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTTGGCAGCGTCAAGAATGA	0.537			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(4099-4101)GTC>ATC		additional sex combs like 1 isoform 1		A	ILE/VAL	0,4406		0,0,2203	61.0	66.0	64.0		4099	-3.2	0.0	20	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ASXL1	NM_015338.5	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1367/1542	31024614	2,13004	2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024614G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4099G>A	20.37:g.31024614G>A	ENSP00000364839:p.Val1367Ile					ASXL1_uc010geb.2_Missense_Mutation_p.V1258I	p.V1367I	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	4525	+			1367					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.4099G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.051603	0.00038	0.0	2.33E-4	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.10668	2.85;2.85	4.68	-3.18	0.05186	.	0.896444	0.09800	N	0.754254	T	0.03915	0.0110	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44787	-0.9305	10	0.02654	T	1	0.3387	12.1683	0.54144	0.5908:0.0:0.4092:0.0	.	1362;1367	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	I	1367;1367;1367;1288;1362	ENSP00000364839:V1367I;ENSP00000305119:V1362I	ENSP00000305119:V1362I	V	+	1	0	ASXL1	30488275	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.160000	0.10041	-0.613000	0.05694	-1.128000	0.01989	GTC		PASS	0.537	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		45	149	45	149	---	---	---	---
FAM217B	63939	broad.mit.edu	37	20	58519998	58519998	+	Missense_Mutation	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr20:58519998G>A	ENST00000358293.3	+	5	1415	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	FAM217B_ENST00000360816.3_Missense_Mutation_p.D334N|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	334								p.D334N(1)									TGTGATTCTGGACTCAGCAGA	0.527																																						uc002yba.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1000-1002)GAC>AAC		hypothetical protein LOC63939							74.0	77.0	76.0					20																	58519998		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519998G>A	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1000G>A	20.37:g.58519998G>A	ENSP00000351040:p.Asp334Asn					C20orf177_uc010zzx.1_Missense_Mutation_p.D177N|C20orf177_uc002ybc.2_Missense_Mutation_p.D334N	p.D334N	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.22e-08)		5	1415	+	all_lung(29;0.00693)		334					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.1000G>A	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677476	0.68042	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.34072	1.38;1.38	5.35	3.24	0.37175	.	0.555927	0.16223	N	0.223979	T	0.41673	0.1169	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	D	0.64776	0.929	T	0.08106	-1.0738	10	0.41790	T	0.15	-17.8201	8.209	0.31473	0.1385:0.0:0.7116:0.15	.	334	Q9NTX9	CT177_HUMAN	N	334	ENSP00000351040:D334N;ENSP00000354056:D334N	ENSP00000351040:D334N	D	+	1	0	C20orf177	57953393	0.036000	0.19791	0.569000	0.28460	0.098000	0.18820	1.197000	0.32211	2.497000	0.84241	0.591000	0.81541	GAC		PASS	0.527	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		30	58	30	58	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34793789	34793789	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr21:34793789C>T	ENST00000290219.6	+	3	857	c.209C>T	c.(208-210)aCc>aTc	p.T70I	IFNGR2_ENST00000381995.1_Missense_Mutation_p.T89I|IFNGR2_ENST00000405436.1_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	70	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)	p.T70I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTTCCCAGCACCGACAGTAAA	0.448																																						uc002yrp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)ACC>ATC		interferon gamma receptor 2 precursor	Interferon gamma-1b(DB00033)						86.0	81.0	83.0					21																	34793789		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34793789C>T		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.209C>T	21.37:g.34793789C>T	ENSP00000290219:p.Thr70Ile					IFNGR2_uc002yrq.3_Missense_Mutation_p.T89I|IFNGR2_uc010gma.2_5'UTR|IFNGR2_uc002yrr.3_5'UTR	p.T70I	NM_005534	NP_005525	P38484	INGR2_HUMAN			3	857	+			70			Extracellular (Potential).|Fibronectin type-III 1.		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.209C>T	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	C	9.031	0.987236	0.18889	.	.	ENSG00000159128	ENST00000290219;ENST00000381995	T;T	0.73897	-0.79;-0.79	4.22	1.27	0.21489	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.724681	0.11359	N	0.572077	T	0.57858	0.2082	N	0.19112	0.55	0.22581	N	0.998968	B;B	0.17667	0.023;0.023	B;B	0.21917	0.023;0.037	T	0.45906	-0.9229	10	0.36615	T	0.2	-22.4904	7.8575	0.29491	0.0:0.3543:0.545:0.1007	.	89;70	E7EUY1;P38484	.;INGR2_HUMAN	I	70;89	ENSP00000290219:T70I;ENSP00000371425:T89I	ENSP00000290219:T70I	T	+	2	0	IFNGR2	33715659	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-0.151000	0.10175	0.132000	0.18615	0.609000	0.83330	ACC		PASS	0.448	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			37	70	37	70	---	---	---	---
MORC3	23515	broad.mit.edu	37	21	37747568	37747568	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr21:37747568C>A	ENST00000400485.1	+	17	2870	c.2794C>A	c.(2794-2796)Caa>Aaa	p.Q932K	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	932					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.Q932K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGTTGTTGAACAAATGAGTGA	0.318																																						uc002yvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2794-2796)CAA>AAA		MORC family CW-type zinc finger 3							153.0	138.0	143.0					21																	37747568		1873	4101	5974	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37747568C>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2794C>A	21.37:g.37747568C>A	ENSP00000383333:p.Gln932Lys						p.Q932K	NM_015358	NP_056173	Q14149	MORC3_HUMAN			17	2870	+			932					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.2794C>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796224	0.70567	.	.	ENSG00000159256	ENST00000400485	T	0.14144	2.53	5.53	5.53	0.82687	.	0.140991	0.48767	D	0.000175	T	0.32912	0.0845	M	0.63843	1.955	0.52099	D	0.999949	D	0.71674	0.998	D	0.75484	0.986	T	0.06588	-1.0818	10	0.07482	T	0.82	-18.8044	19.4629	0.94924	0.0:1.0:0.0:0.0	.	932	Q14149	MORC3_HUMAN	K	932	ENSP00000383333:Q932K	ENSP00000383333:Q932K	Q	+	1	0	MORC3	36669438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.584000	0.67490	2.617000	0.88574	0.585000	0.79938	CAA		PASS	0.318	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		46	62	46	62	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022266	18022266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr22:18022266C>T	ENST00000400585.2	+	16	2383	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.R790*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.R791*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	832					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.R790*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GATGGATTCCCGAGTCATGAG	0.602																																						uc010gqw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2368-2370)CGA>TGA		cat eye syndrome chromosome region, candidate 2							69.0	75.0	73.0					22																	18022266		2057	4190	6247	SO:0001587	stop_gained	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022266C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1945C>T	22.37:g.18022266C>T	ENSP00000383428:p.Arg649*					CECR2_uc010gqv.1_Nonsense_Mutation_p.R649*|CECR2_uc002zml.2_Nonsense_Mutation_p.R649*	p.R790*	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2494	+		all_epithelial(15;0.139)	832					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400585.2	37	c.2368C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.570519	0.96540	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.07	4.03	0.46877	.	0.159161	0.29631	N	0.011611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5663	13.1131	0.59285	0.1603:0.8397:0.0:0.0	.	.	.	.	X	649;790;791	.	ENSP00000262608:R791X	R	+	1	2	CECR2	16402266	0.541000	0.26417	0.608000	0.28969	0.235000	0.25334	2.614000	0.46359	1.324000	0.45282	0.561000	0.74099	CGA		PASS	0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		22	101	22	101	---	---	---	---
IGLC7	28834	broad.mit.edu	37	22	23263607	23263607	+	RNA	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr22:23263607G>T	ENST00000390331.2	+	0	0				IGLJ7_ENST00000390330.2_RNA			A0M8Q6	LAC7_HUMAN	immunoglobulin lambda constant 7						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)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GACCGCCCTCGGTAAGTCTCC	0.582																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							81.0	95.0	90.0					22																	23263607		2059	4207	6266			96610							g.chr22:23263607G>T	X51755		22q11.2	2012-02-08			ENSG00000211685	ENSG00000211685		"""Immunoglobulins / IGL locus"""	5861	other	immunoglobulin gene							Standard	NG_000002		Approved			A0M8Q6	OTTHUMG00000151017		22.37:g.23263607G>T														378		+									RNA	SNP	ENST00000390331.2	37	c.16575G>T																																																																																					PASS	0.582	IGLC7-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000320966.4	NG_000002		27	51	27	51	---	---	---	---
WDR45	11152	broad.mit.edu	37	X	48932917	48932917	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chrX:48932917C>T	ENST00000376372.3	-	10	1032	c.851G>A	c.(850-852)gGg>gAg	p.G284E	PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.G285E|WDR45_ENST00000485908.1_Missense_Mutation_p.G249E|WDR45_ENST00000396681.4_Missense_Mutation_p.G270E|WDR45_ENST00000356463.3_Missense_Mutation_p.G285E|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.G295E|PRAF2_ENST00000376386.3_5'Flank|AF196779.12_ENST00000376358.3_Intron	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	284					autophagy (GO:0006914)|cell death (GO:0008219)			p.G285E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AATCATAGGCCCCACCTTGCC	0.622																																						uc004dmk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)GGG>GAG		WD repeat domain 45 isoform 2							30.0	26.0	27.0					X																	48932917		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48932917C>T	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.851G>A	X.37:g.48932917C>T	ENSP00000365551:p.Gly284Glu					PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.G245E|WDR45_uc004dml.1_Missense_Mutation_p.G285E|WDR45_uc004dmm.1_Missense_Mutation_p.G249E|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_Missense_Mutation_p.G175E|WDR45_uc004dmo.1_Missense_Mutation_p.G307E|WDR45_uc004dmp.1_Missense_Mutation_p.G285E	p.G284E	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			10	1023	-			284					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.851G>A	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657425	0.47467	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.09	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	L	0.29908	0.895	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.882	D;D;D;P	0.77004	0.989;0.985;0.989;0.451	T	0.69767	-0.5056	10	0.07482	T	0.82	-12.4491	8.4384	0.32801	0.0:0.7863:0.0:0.2137	.	295;249;285;284	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;WIPI4_HUMAN	E	284;295;285;249;285;270	ENSP00000365551:G284E;ENSP00000365543:G295E;ENSP00000348848:G285E;ENSP00000419897:G249E;ENSP00000365546:G285E;ENSP00000379913:G270E	ENSP00000365543:G295E	G	-	2	0	WDR45	48819861	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.080000	0.76837	0.823000	0.34589	0.409000	0.27619	GGG		PASS	0.622	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		14	3	14	3	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101911509	101911509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chrX:101911509G>T	ENST00000361600.5	+	5	3469	c.2668G>T	c.(2668-2670)Gga>Tga	p.G890*	GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.G890*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.G890*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.G890*	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	890	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.G890*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATACAGGCTGGATCTCAGGC	0.507																																						uc004ejj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2668-2670)GGA>TGA		G protein-coupled receptor associated sorting							86.0	89.0	88.0					X																	101911509		2203	4300	6503	SO:0001587	stop_gained	9737					cytoplasm	protein binding	g.chrX:101911509G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2668G>T	X.37:g.101911509G>T	ENSP00000355146:p.Gly890*					GPRASP1_uc004eji.3_Nonsense_Mutation_p.G890*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.G890*	p.G890*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3469	+			890			Glu-rich.		O43168|Q96LA1	Nonsense_Mutation	SNP	ENST00000361600.5	37	c.2668G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	46	12.916125	0.99706	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.61	0.785	0.18584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.1873	6.0264	0.19658	0.3012:0.0:0.6988:0.0	.	.	.	.	X	890	.	ENSP00000355146:G890X	G	+	1	0	GPRASP1	101798165	0.381000	0.25140	0.001000	0.08648	0.849000	0.48306	1.703000	0.37846	0.086000	0.17137	0.292000	0.19580	GGA		PASS	0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		83	51	83	51	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995582	140995582	+	Missense_Mutation	SNP	C	C	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chrX:140995582C>T	ENST00000285879.4	+	4	2678	c.2392C>T	c.(2392-2394)Cct>Tct	p.P798S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	798								p.P798S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGAGAGTCCTCAGAGTCC	0.567										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2392-2394)CCT>TCT		melanoma antigen family C, 1							129.0	141.0	137.0					X																	140995582		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995582C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2392C>T	X.37:g.140995582C>T	ENSP00000285879:p.Pro798Ser	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P798S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2678	+	Acute lymphoblastic leukemia(192;6.56e-05)		798					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2392C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	9.975	1.226641	0.22542	.	.	ENSG00000155495	ENST00000285879	T	0.02216	4.39	1.38	1.38	0.22167	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.39741	D	0.97174	P	0.42584	0.784	B	0.36885	0.235	T	0.67098	-0.5756	9	0.62326	D	0.03	.	8.5806	0.33626	0.0:1.0:0.0:0.0	.	798	O60732	MAGC1_HUMAN	S	798	ENSP00000285879:P798S	ENSP00000285879:P798S	P	+	1	0	MAGEC1	140823248	0.062000	0.20869	0.002000	0.10522	0.008000	0.06430	0.847000	0.27696	0.613000	0.30089	0.284000	0.19432	CCT		PASS	0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		171	121	171	121	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995591	140995591	+	Missense_Mutation	SNP	C	C	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chrX:140995591C>A	ENST00000285879.4	+	4	2687	c.2401C>A	c.(2401-2403)Cct>Act	p.P801T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	801								p.P801T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGTCCTCCTGAGGG	0.562										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2401-2403)CCT>ACT		melanoma antigen family C, 1							131.0	142.0	139.0					X																	140995591		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995591C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2401C>A	X.37:g.140995591C>A	ENSP00000285879:p.Pro801Thr	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P801T	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2687	+	Acute lymphoblastic leukemia(192;6.56e-05)		801					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2401C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	6.574	0.474296	0.12521	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	1.38	0.39	0.16275	.	.	.	.	.	T	0.01189	0.0039	N	0.04508	-0.205	0.09310	N	0.999999	B	0.20459	0.045	B	0.15052	0.012	T	0.47484	-0.9114	9	0.40728	T	0.16	.	4.8315	0.13443	0.0:0.7444:0.0:0.2556	.	801	O60732	MAGC1_HUMAN	T	801	ENSP00000285879:P801T	ENSP00000285879:P801T	P	+	1	0	MAGEC1	140823257	0.025000	0.19082	0.007000	0.13788	0.020000	0.10135	0.304000	0.19228	0.613000	0.30089	0.284000	0.19432	CCT		PASS	0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		168	114	168	114	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150840052	150840052	+	Missense_Mutation	SNP	C	C	G			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chrX:150840052C>G	ENST00000370357.4	+	13	1483	c.1238C>G	c.(1237-1239)cCa>cGa	p.P413R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	413						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.P413R(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAAGCAGCCAAACACATTA	0.502																																						uc004fev.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1237-1239)CCA>CGA		PAS domain containing 1							214.0	171.0	186.0					X																	150840052		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840052C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1238C>G	X.37:g.150840052C>G	ENSP00000359382:p.Pro413Arg						p.P413R	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			13	1570	+	Acute lymphoblastic leukemia(192;6.56e-05)		413					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1238C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	9.807	1.181995	0.21787	.	.	ENSG00000166049	ENST00000370357	T	0.18016	2.24	3.92	1.02	0.19986	.	.	.	.	.	T	0.10465	0.0256	N	0.24115	0.695	0.09310	N	1	P	0.45126	0.851	B	0.43301	0.415	T	0.15954	-1.0419	9	0.44086	T	0.13	-38.1033	1.812	0.03092	0.2113:0.4651:0.2021:0.1216	.	413	Q8IV76	PASD1_HUMAN	R	413	ENSP00000359382:P413R	ENSP00000359382:P413R	P	+	2	0	PASD1	150590708	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.561000	0.05957	0.082000	0.17018	0.529000	0.55759	CCA		PASS	0.502	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		10	220	10	220	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911761	150911761	+	Silent	SNP	G	G	T			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chrX:150911761G>T	ENST00000329903.4	+	6	819	c.786G>T	c.(784-786)cgG>cgT	p.R262R		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	262					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R262R(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTGACCGGACAGAGACAC	0.517																																						uc004fey.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(784-786)CGG>CGT		cyclic nucleotide gated channel alpha 2							191.0	145.0	161.0					X																	150911761		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911761G>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.786G>T	X.37:g.150911761G>T							p.R262R	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1010	+	Acute lymphoblastic leukemia(192;6.56e-05)		262			Extracellular (Potential).		A0AVD0	Silent	SNP	ENST00000329903.4	37	c.786G>T	CCDS14701.1																																																																																				PASS	0.517	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		112	54	112	54	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153136336	153136336	+	Silent	SNP	G	G	A			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chrX:153136336G>A	ENST00000370060.1	-	7	792	c.603C>T	c.(601-603)tcC>tcT	p.S201S	L1CAM_ENST00000361981.3_Silent_p.S196S|L1CAM_ENST00000370057.3_Silent_p.S201S|L1CAM_ENST00000538883.1_Silent_p.S203S|L1CAM_ENST00000361699.4_Silent_p.S201S|L1CAM_ENST00000370055.1_Silent_p.S196S|L1CAM_ENST00000543994.1_Silent_p.S203S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	201	Ig-like C2-type 2.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.S201S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGTTGTCGGAGGTGAGCA	0.587																																						uc004fjb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(601-603)TCC>TCT		L1 cell adhesion molecule isoform 1 precursor							278.0	184.0	216.0					X																	153136336		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153136336G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.603C>T	X.37:g.153136336G>A						L1CAM_uc004fjc.2_Silent_p.S201S|L1CAM_uc010nuo.2_Silent_p.S196S|L1CAM_uc004fjd.1_Silent_p.S15S|L1CAM_uc004fje.1_Silent_p.S196S	p.S201S	NM_000425	NP_000416	P32004	L1CAM_HUMAN			6	711	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		201			Extracellular (Potential).|Ig-like C2-type 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.603C>T	CCDS14733.1																																																																																				PASS	0.587	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		69	26	69	26	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					uc009ylv.2																			3	Deletion - In frame(3)		prostate(1)|breast(1)|central_nervous_system(1)	ovary(1)	1						c.(172-177)ACCACCdel		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_uc001ngj.2_5'UTR|FNBP4_uc001ngl.2_RNA	p.TT58del	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			1	325_330	-			58_59					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																					0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			5	3	5	3	---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49422520	49422520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-0944-01A-01D-1521-08	TCGA-22-0944-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	818a6f09-a7fd-4cce-8373-adb4bcb5bc8c	dbe683e0-334a-4f6e-ba93-f656948ecda2	g.chr19:49422520delG	ENST00000405315.4	+	10	1313	c.979delG	c.(979-981)gggfs	p.G327fs	NUCB1_ENST00000407032.1_Frame_Shift_Del_p.G327fs|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Frame_Shift_Del_p.G327fs	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	327	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAAGGAGTTTGGGGACACCGG	0.582																																						uc002plb.3																			0					0						c.(979-981)GGGfs		nucleobindin 1 precursor							47.0	52.0	50.0					19																	49422520		2203	4300	6503	SO:0001589	frameshift_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422520delG	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.979delG	19.37:g.49422520delG	ENSP00000385923:p.Gly327fs					NUCB1_uc002pla.2_Frame_Shift_Del_p.G327fs|NUCB1_uc002plc.2_Frame_Shift_Del_p.G327fs|NUCB1_uc002pld.2_5'UTR	p.G327fs	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	10	1051	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	327			EF-hand 2.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Frame_Shift_Del	DEL	ENST00000405315.4	37	c.979delG	CCDS12740.1																																																																																					0.582	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		63	58	63	58	---	---	---	---
