#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
PRDM16	63976	broad.mit.edu	37	1	3347564	3347564	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:3347564C>G	ENST00000270722.5	+	15	3462	c.3413C>G	c.(3412-3414)tCg>tGg	p.S1138W	PRDM16_ENST00000378391.2_Missense_Mutation_p.S1138W|PRDM16_ENST00000442529.2_Missense_Mutation_p.S1137W|PRDM16_ENST00000511072.1_Missense_Mutation_p.S1139W|PRDM16_ENST00000378398.3_Missense_Mutation_p.S1138W|PRDM16_ENST00000514189.1_Missense_Mutation_p.S1138W|PRDM16_ENST00000441472.2_Missense_Mutation_p.S1137W|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1138	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.S1137W(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCGGGAAGTCGCAGGATGAC	0.672			T	EVI1	"""MDS, AML"""																																	uc001akf.2				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(3412-3414)TCG>TGG		PR domain containing 16 isoform 1							81.0	111.0	101.0					1																	3347564		2189	4281	6470	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3347564C>G	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3413C>G	1.37:g.3347564C>G	ENSP00000270722:p.Ser1138Trp					PRDM16_uc001akc.2_Missense_Mutation_p.S1137W|PRDM16_uc001akd.2_Missense_Mutation_p.S1137W|PRDM16_uc001ake.2_Missense_Mutation_p.S1138W|PRDM16_uc009vlh.2_Missense_Mutation_p.S838W	p.S1138W	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	15	3493	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1138			Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.3413C>G	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592509	0.66219	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06687	3.28;3.31;3.32;3.32;3.31;3.31;3.32;3.28;3.27	4.1	4.1	0.47936	.	0.286966	0.24396	N	0.038884	T	0.29945	0.0749	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;1.0;0.991;0.999	T	0.12426	-1.0548	10	0.87932	D	0	.	16.7606	0.85511	0.0:1.0:0.0:0.0	.	1138;1138;1137;1137	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	W	1139;1138;1137;1137;1138;1138;1138;954;954;946	ENSP00000426975:S1139W;ENSP00000367651:S1138W;ENSP00000407968:S1137W;ENSP00000405253:S1137W;ENSP00000367643:S1138W;ENSP00000421400:S1138W;ENSP00000270722:S1138W;ENSP00000422504:S954W;ENSP00000425796:S946W	ENSP00000270722:S1138W	S	+	2	0	PRDM16	3337424	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	5.941000	0.70195	2.023000	0.59567	0.456000	0.33151	TCG		PASS	0.672	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		3	11	3	11	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3683924	3683924	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:3683924T>C	ENST00000294600.2	+	10	1742	c.1658T>C	c.(1657-1659)cTg>cCg	p.L553P		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	553								p.L553P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGAAGCAGCTGCAGGAGGAT	0.597																																						uc001akv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1657-1659)CTG>CCG		coiled-coil domain containing 27							58.0	53.0	55.0					1																	3683924		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3683924T>C		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1658T>C	1.37:g.3683924T>C	ENSP00000294600:p.Leu553Pro						p.L553P	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1739	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	553					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1658T>C	CCDS50.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141851	0.37825	.	.	ENSG00000162592	ENST00000294600	T	0.19806	2.12	5.24	2.67	0.31697	.	0.883549	0.09471	N	0.797725	T	0.25005	0.0607	L	0.29908	0.895	0.21147	N	0.999773	D	0.64830	0.994	P	0.59595	0.86	T	0.16808	-1.0390	10	0.31617	T	0.26	-25.798	5.0455	0.14480	0.1655:0.0:0.2787:0.5558	.	553	Q2M243	CCD27_HUMAN	P	553	ENSP00000294600:L553P	ENSP00000294600:L553P	L	+	2	0	CCDC27	3673784	0.000000	0.05858	0.416000	0.26546	0.281000	0.26958	0.366000	0.20365	1.957000	0.56846	0.533000	0.62120	CTG		PASS	0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		10	67	10	67	---	---	---	---
CA6	765	broad.mit.edu	37	1	9022676	9022676	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:9022676A>G	ENST00000377443.2	+	5	536	c.532A>G	c.(532-534)Agc>Ggc	p.S178G	CA6_ENST00000377442.2_Missense_Mutation_p.S118G|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.S178G	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	178					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S178G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	CACTTATTACAGCAACTTCAT	0.498																																						uc001apm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(532-534)AGC>GGC		carbonic anhydrase VI precursor							120.0	112.0	115.0					1																	9022676		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9022676A>G	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.532A>G	1.37:g.9022676A>G	ENSP00000366662:p.Ser178Gly					CA6_uc009vmn.2_Missense_Mutation_p.S118G	p.S178G	NM_001215	NP_001206	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	5	556	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	178					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.532A>G	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	A	9.288	1.049991	0.19827	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.0	1.22	0.21188	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.391259	0.33457	N	0.004883	T	0.69717	0.3142	M	0.62266	1.93	0.21147	N	0.999779	D;D	0.76494	0.999;0.996	P;P	0.60886	0.88;0.874	T	0.59010	-0.7534	10	0.56958	D	0.05	.	3.617	0.08081	0.6421:0.0:0.1914:0.1665	.	118;178	E7EMQ1;P23280	.;CAH6_HUMAN	G	146;178;178;118	ENSP00000447108:S146G;ENSP00000366662:S178G;ENSP00000366654:S178G;ENSP00000366661:S118G	ENSP00000366654:S178G	S	+	1	0	CA6	8945263	0.997000	0.39634	0.002000	0.10522	0.013000	0.08279	3.166000	0.50785	0.290000	0.22444	-0.263000	0.10527	AGC		PASS	0.498	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			24	148	24	148	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22923930	22923930	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:22923930G>C	ENST00000166244.3	+	10	1963	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	631	Mediates interaction with PIK3CG and required for endocytosis. {ECO:0000250}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.E631Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGGGAGATCGAGGCCTCTAG	0.652																																						uc001bfx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1891-1893)GAG>CAG		ephrin receptor EphA8 isoform 1 precursor							68.0	80.0	76.0					1																	22923930		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22923930G>C	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1891G>C	1.37:g.22923930G>C	ENSP00000166244:p.Glu631Gln						p.E631Q	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	2016	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	631			Cytoplasmic (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.1891G>C	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053164	0.55218	.	.	ENSG00000070886	ENST00000166244	T	0.12465	2.68	4.6	4.6	0.57074	Protein kinase-like domain (1);	0.063358	0.64402	D	0.000008	T	0.34106	0.0886	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.06752	-1.0809	10	0.87932	D	0	.	16.1471	0.81578	0.0:0.0:1.0:0.0	.	631	P29322	EPHA8_HUMAN	Q	631	ENSP00000166244:E631Q	ENSP00000166244:E631Q	E	+	1	0	EPHA8	22796517	1.000000	0.71417	0.991000	0.47740	0.153000	0.21895	5.571000	0.67404	2.386000	0.81285	0.491000	0.48974	GAG		PASS	0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		4	175	4	175	---	---	---	---
CNKSR1	10256	broad.mit.edu	37	1	26513718	26513718	+	Missense_Mutation	SNP	T	T	G	rs369423789		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:26513718T>G	ENST00000374253.5	+	15	1428	c.1389T>G	c.(1387-1389)gaT>gaG	p.D463E	CNKSR1_ENST00000531191.1_Missense_Mutation_p.D198E|CNKSR1_ENST00000361530.6_Missense_Mutation_p.D456E	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	463	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.D456E(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGACATGATCAGAAGAAGA	0.527																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(1387-1389)GAT>GAG		connector enhancer of kinase suppressor of Ras		T	GLU/ASP	0,4406		0,0,2203	102.0	110.0	107.0		1368	1.8	1.0	1		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNKSR1	NM_006314.2	45	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	benign	456/714	26513718	1,13005	2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26513718T>G	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1389T>G	1.37:g.26513718T>G	ENSP00000363371:p.Asp463Glu					CNKSR1_uc001blm.3_Missense_Mutation_p.D456E|CNKSR1_uc009vsd.2_Missense_Mutation_p.D198E|CNKSR1_uc009vse.2_Missense_Mutation_p.D198E|CNKSR1_uc001blo.2_Missense_Mutation_p.D198E	p.D463E	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	15	1447	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	463			PH.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.1389T>G		.	.	.	.	.	.	.	.	.	.	T	6.303	0.423983	0.11928	0.0	1.16E-4	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.12361	2.69;2.69;2.69	5.56	1.75	0.24633	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.054388	0.64402	D	0.000001	T	0.03739	0.0106	N	0.03999	-0.3	0.41551	D	0.988574	B;B	0.29612	0.136;0.251	B;B	0.23574	0.047;0.047	T	0.36720	-0.9736	10	0.02654	T	1	-15.5234	5.4334	0.16466	0.0:0.2058:0.3874:0.4068	.	463;456	Q969H4;Q53GM7	CNKR1_HUMAN;.	E	456;463;198	ENSP00000354609:D456E;ENSP00000363371:D463E;ENSP00000431817:D198E	ENSP00000354609:D456E	D	+	3	2	CNKSR1	26386305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.935000	0.40173	0.951000	0.37770	0.533000	0.62120	GAT		PASS	0.527	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		18	45	18	45	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32196407	32196407	+	Silent	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:32196407G>T	ENST00000373658.3	-	29	4715	c.4374C>A	c.(4372-4374)tcC>tcA	p.S1458S	BAI2_ENST00000257070.4_Silent_p.S1425S|BAI2_ENST00000398538.1_Silent_p.S1446S|BAI2_ENST00000398542.1_Silent_p.S1358S|BAI2_ENST00000440175.2_Silent_p.S1067S|BAI2_ENST00000398547.1_Silent_p.S1391S|BAI2_ENST00000373655.2_Silent_p.S1458S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398556.3_Silent_p.S1373S|BAI2_ENST00000527361.1_Silent_p.S1425S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1458					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1458S(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCACCTCCAGGGAGCCCATCT	0.682																																						uc001btn.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(4372-4374)TCC>TCA		brain-specific angiogenesis inhibitor 2							39.0	46.0	43.0					1																	32196407		2194	4294	6488	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196407G>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4374C>A	1.37:g.32196407G>T						BAI2_uc001btm.2_Silent_p.S452S|BAI2_uc001btp.1_Silent_p.S452S|BAI2_uc010ogn.1_Silent_p.S428S|BAI2_uc010ogo.1_Silent_p.S1067S|BAI2_uc010ogp.1_Silent_p.S1391S|BAI2_uc010ogq.1_Silent_p.S1425S|BAI2_uc001bto.2_Silent_p.S1458S	p.S1458S	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4728	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1458			Cytoplasmic (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.4374C>A	CCDS346.2																																																																																				PASS	0.682	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		28	108	28	108	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34208955	34208955	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:34208955C>A	ENST00000373381.4	-	14	2275	c.2099G>T	c.(2098-2100)aGt>aTt	p.S700I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	660	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S660I(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACGTGGCCACTGCTTGTGAT	0.592																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(1978-1980)AGT>ATT		CUB and Sushi multiple domains 2							62.0	56.0	58.0					1																	34208955		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34208955C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2099G>T	1.37:g.34208955C>A	ENSP00000362479:p.Ser700Ile					CSMD2_uc001bxm.1_Missense_Mutation_p.S700I	p.S660I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			14	2008	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	660			Extracellular (Potential).|CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1979G>T		.	.	.	.	.	.	.	.	.	.	C	24.5	4.535043	0.85812	.	.	ENSG00000121904	ENST00000373381	T	0.19806	2.12	5.69	5.69	0.88448	CUB (5);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.82630	2.6	0.80722	D	1	D;D	0.58970	0.984;0.969	D;P	0.68483	0.958;0.889	T	0.53330	-0.8454	10	0.66056	D	0.02	.	19.1688	0.93569	0.0:1.0:0.0:0.0	.	660;700	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	700	ENSP00000362479:S700I	ENSP00000241312:S660I	S	-	2	0	CSMD2	33981542	1.000000	0.71417	0.985000	0.45067	0.940000	0.58332	5.914000	0.69964	2.840000	0.97914	0.655000	0.94253	AGT		PASS	0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		17	88	17	88	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39801075	39801075	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:39801075C>G	ENST00000372915.3	+	36	8917	c.8830C>G	c.(8830-8832)Caa>Gaa	p.Q2944E	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1379E|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.Q2939E|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2976E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2944					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q1379E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGAAAATCAAGGGGAAGT	0.378																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4135-4137)CAA>GAA		microfilament and actin filament cross-linker							49.0	53.0	52.0					1																	39801075		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801075C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8830C>G	1.37:g.39801075C>G	ENSP00000362006:p.Gln2944Glu					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.Q1379E	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4266	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2944					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4135C>G		.	.	.	.	.	.	.	.	.	.	C	7.787	0.710716	0.15239	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62639	0.01;1.02	5.09	4.12	0.48240	.	1.314950	0.05256	N	0.514845	T	0.54415	0.1857	N	0.24115	0.695	0.09310	N	0.99999	B	0.22003	0.063	B	0.30316	0.114	T	0.47420	-0.9119	10	0.87932	D	0	.	10.009	0.41975	0.2014:0.7986:0.0:0.0	.	2944	Q9UPN3	MACF1_HUMAN	E	2944;1379	ENSP00000362006:Q2944E;ENSP00000289893:Q1379E	ENSP00000289893:Q1379E	Q	+	1	0	MACF1	39573662	0.230000	0.23740	0.225000	0.23894	0.931000	0.56810	2.359000	0.44142	2.371000	0.80710	0.467000	0.42956	CAA		PASS	0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	135	7	135	---	---	---	---
TSPAN1	10103	broad.mit.edu	37	1	46650002	46650002	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:46650002T>C	ENST00000372003.1	+	4	661	c.197T>C	c.(196-198)gTg>gCg	p.V66A	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	66					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.V66A(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GCCGGCGTTGTGGTCTTTGCT	0.557																																						uc001cpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)GTG>GCG		tetraspan 1							165.0	125.0	139.0					1																	46650002		2203	4300	6503	SO:0001583	missense	10103					integral to membrane|lysosomal membrane		g.chr1:46650002T>C	BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.197T>C	1.37:g.46650002T>C	ENSP00000361072:p.Val66Ala					TSPAN1_uc009vyd.1_Missense_Mutation_p.V66A	p.V66A	NM_005727	NP_005718	O60635	TSN1_HUMAN			4	661	+	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)	66			Helical; (Potential).		D3DQ14|O60745|Q5VST0	Missense_Mutation	SNP	ENST00000372003.1	37	c.197T>C	CCDS530.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.260128	0.59321	.	.	ENSG00000117472	ENST00000372003	T	0.79554	-1.28	4.87	3.72	0.42706	Tetraspanin, conserved site (1);	0.521440	0.18850	N	0.129423	T	0.77598	0.4154	L	0.56769	1.78	0.38560	D	0.94967	B	0.27351	0.176	B	0.32762	0.152	T	0.79405	-0.1817	10	0.56958	D	0.05	.	10.7492	0.46198	0.0:0.0764:0.0:0.9236	.	66	O60635	TSN1_HUMAN	A	66	ENSP00000361072:V66A	ENSP00000361072:V66A	V	+	2	0	TSPAN1	46422589	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	4.013000	0.57138	2.040000	0.60383	0.455000	0.32223	GTG		PASS	0.557	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727		5	75	5	75	---	---	---	---
NFIA	4774	broad.mit.edu	37	1	61824824	61824824	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:61824824C>G	ENST00000403491.3	+	6	1308	c.824C>G	c.(823-825)aCa>aGa	p.T275R	NFIA_ENST00000371189.4_Missense_Mutation_p.T320R|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.T275R|NFIA_ENST00000371187.3_Missense_Mutation_p.T275R|NFIA_ENST00000407417.3_Missense_Mutation_p.T267R|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000371191.1_Missense_Mutation_p.T298R|NFIA_ENST00000371185.2_Missense_Mutation_p.T253R	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	275					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T320R(1)|p.T275R(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TTCAGCTCCACAAAGCGCCTC	0.502																																						uc001czw.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(823-825)ACA>AGA		nuclear factor I/A isoform 1							131.0	133.0	132.0					1																	61824824		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61824824C>G	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.824C>G	1.37:g.61824824C>G	ENSP00000384523:p.Thr275Arg					NFIA_uc001czy.2_Missense_Mutation_p.T267R|NFIA_uc010oos.1_Missense_Mutation_p.T320R|NFIA_uc001czv.2_Missense_Mutation_p.T275R	p.T275R	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			6	1308	+			275					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.824C>G	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592972	0.86953	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	T;T;T;T;T;T;T	0.45276	0.92;0.91;0.9;0.91;0.91;0.9;0.91	6.03	6.03	0.97812	.	0.152963	0.64402	D	0.000016	T	0.46580	0.1400	L	0.45581	1.43	0.53005	D	0.999965	P;P;B;P	0.41131	0.739;0.631;0.322;0.578	P;B;B;B	0.45232	0.474;0.175;0.114;0.11	T	0.09930	-1.0652	10	0.21540	T	0.41	-13.3148	20.5666	0.99351	0.0:1.0:0.0:0.0	.	320;298;275;275	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	R	298;267;320;275;275;253;275	ENSP00000360233:T298R;ENSP00000384680:T267R;ENSP00000360231:T320R;ENSP00000384523:T275R;ENSP00000419785:T275R;ENSP00000360227:T253R;ENSP00000360229:T275R	ENSP00000360227:T253R	T	+	2	0	NFIA	61597412	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	7.173000	0.77612	2.854000	0.98071	0.655000	0.94253	ACA		PASS	0.502	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		6	394	6	394	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75055466	75055466	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:75055466T>A	ENST00000326665.5	-	12	2243	c.2025A>T	c.(2023-2025)aaA>aaT	p.K675N	C1orf173_ENST00000420661.2_Missense_Mutation_p.K478N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		675	Glu-rich.							p.K675N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTGGGTTCCTTTCTCCGTTC	0.408																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2023-2025)AAA>AAT		hypothetical protein LOC127254							157.0	157.0	157.0					1																	75055466		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055466T>A																												ENST00000326665.5:c.2025A>T	1.37:g.75055466T>A	ENSP00000322609:p.Lys675Asn					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.K469N	p.K675N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	2244	-			675			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2025A>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	9.866	1.197512	0.22037	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19394	2.62;2.15	5.35	0.459	0.16678	.	.	.	.	.	T	0.02929	0.0087	N	0.19112	0.55	0.09310	N	1	B;B	0.18461	0.01;0.028	B;B	0.11329	0.006;0.006	T	0.45804	-0.9236	9	0.21540	T	0.41	-4.537	3.0966	0.06312	0.1801:0.3004:0.0:0.5195	.	478;675	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	N	675;478	ENSP00000322609:K675N;ENSP00000398581:K478N	ENSP00000322609:K675N	K	-	3	2	C1orf173	74828054	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.386000	0.07370	0.036000	0.15547	0.472000	0.43445	AAA		PASS	0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			37	185	37	185	---	---	---	---
FAM73A	374986	broad.mit.edu	37	1	78272736	78272736	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:78272736T>C	ENST00000370791.3	+	5	619	c.587T>C	c.(586-588)aTt>aCt	p.I196T	FAM73A_ENST00000443751.2_Missense_Mutation_p.I158T	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	196						integral component of membrane (GO:0016021)		p.I196T(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAGATGATATTAAACTTGTT	0.348																																						uc001dhx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)ATT>ACT		hypothetical protein LOC374986							126.0	133.0	131.0					1																	78272736		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78272736T>C		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.587T>C	1.37:g.78272736T>C	ENSP00000359827:p.Ile196Thr					FAM73A_uc010ork.1_Missense_Mutation_p.I196T|FAM73A_uc010orl.1_Missense_Mutation_p.I158T|FAM73A_uc001dhy.1_5'UTR	p.I196T	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	5	619	+			196					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.587T>C	CCDS681.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.439090	0.25900	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.21031	2.03;2.03	5.63	5.63	0.86233	.	0.452014	0.24312	N	0.039639	T	0.04003	0.0112	N	0.22421	0.69	0.25230	N	0.989839	B;B;B	0.15473	0.013;0.005;0.005	B;B;B	0.12156	0.007;0.005;0.005	T	0.34825	-0.9813	10	0.07325	T	0.83	-16.1442	9.9619	0.41701	0.0:0.0761:0.0:0.9239	.	158;196;196	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	T	196;158	ENSP00000359827:I196T;ENSP00000393675:I158T	ENSP00000359827:I196T	I	+	2	0	FAM73A	78045324	0.810000	0.29049	0.906000	0.35671	0.938000	0.57974	3.108000	0.50337	2.142000	0.66516	0.533000	0.62120	ATT		PASS	0.348	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		7	178	7	178	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79403966	79403966	+	Splice_Site	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:79403966T>G	ENST00000370742.3	-	5	460		c.e5-2			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGATCTGATCTGAGAAAAAAT	0.313																																						uc001diq.3																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e5-1		EGF, latrophilin and seven transmembrane domain							34.0	31.0	32.0					1																	79403966		1795	4058	5853	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403966T>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.397-2A>C	1.37:g.79403966T>G							p.I133_splice	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	5	553	-								B1AR71|Q5KU34	Splice_Site	SNP	ENST00000370742.3	37	c.397_splice	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433594	0.25813	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1678	0.81782	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELTD1	79176554	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	4.017000	0.57167	2.218000	0.71995	0.528000	0.53228	.		PASS	0.313	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Intron	9	41	9	41	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109815822	109815822	+	Silent	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:109815822A>T	ENST00000271332.3	+	32	8434	c.8373A>T	c.(8371-8373)ccA>ccT	p.P2791P	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2791					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P2791P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTGGCCAGGAGACTTTG	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(8371-8373)CCA>CCT		cadherin EGF LAG seven-pass G-type receptor 2							40.0	51.0	47.0					1																	109815822		2202	4298	6500	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815822A>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8373A>T	1.37:g.109815822A>T							p.P2791P	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	32	8434	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2791			Cytoplasmic (Potential).		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.8373A>T	CCDS796.1																																																																																				PASS	0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		31	95	31	95	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277174	152277174	+	Silent	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:152277174A>T	ENST00000368799.1	-	3	10223	c.10188T>A	c.(10186-10188)tcT>tcA	p.S3396S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3396	Ser-rich.		S -> P (in dbSNP:rs11584340).		establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S3396S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCAGACTCAGACTGTTCAT	0.612									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10186-10188)TCT>TCA		filaggrin							169.0	198.0	188.0					1																	152277174		2203	4298	6501	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277174A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10188T>A	1.37:g.152277174A>T							p.S3396S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10224	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3396			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10188T>A	CCDS30860.1																																																																																				PASS	0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		128	608	128	608	---	---	---	---
ETV3	2117	broad.mit.edu	37	1	157104020	157104020	+	Splice_Site	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:157104020C>A	ENST00000368192.4	-	4	349		c.e4-1		ETV3_ENST00000460850.1_5'Flank|ETV3_ENST00000326786.4_Splice_Site	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3						cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.?(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				GTAATAGTATCTGTAAAAACA	0.368																																						uc001fqr.2																			2	Unknown(2)		lung(2)		0						c.e4-1		ets variant gene 3 isoform 1							147.0	121.0	130.0					1																	157104020		2203	4300	6503	SO:0001630	splice_region_variant	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157104020C>A	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.285-1G>T	1.37:g.157104020C>A						ETV3_uc001fqt.2_Intron	p.R95_splice	NM_001145312	NP_001138784	P41162	ETV3_HUMAN			4	574	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)						B4E3M7|Q8TAC8|Q9BX30	Splice_Site	SNP	ENST00000368192.4	37	c.285_splice	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518860	0.85495	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3997	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETV3	155370644	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.767000	0.85331	2.871000	0.98454	0.655000	0.94253	.		PASS	0.368	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240	Intron	22	78	22	78	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151509	158151509	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:158151509C>G	ENST00000368171.3	+	3	825	c.326C>G	c.(325-327)tCc>tGc	p.S109C		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	109					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.S109C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTACGCTTATCCTGTGAGCTG	0.532																																						uc001frr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(325-327)TCC>TGC		CD1D antigen precursor							41.0	43.0	42.0					1																	158151509		2203	4299	6502	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151509C>G	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.326C>G	1.37:g.158151509C>G	ENSP00000357153:p.Ser109Cys					CD1D_uc009wsr.1_Missense_Mutation_p.S109C|CD1D_uc009wss.2_Missense_Mutation_p.S109C|CD1D_uc009wst.1_Missense_Mutation_p.S5C	p.S109C	NM_001766	NP_001757	P15813	CD1D_HUMAN			3	825	+	all_hematologic(112;0.0378)		109			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.326C>G	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118254	0.37339	.	.	ENSG00000158473	ENST00000368171	T	0.09350	2.99	4.33	-8.67	0.00863	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.815000	0.02765	N	0.119063	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.41770	-0.9490	10	0.87932	D	0	-0.0608	11.4654	0.50235	0.7621:0.1592:0.0:0.0786	.	109	P15813	CD1D_HUMAN	C	109	ENSP00000357153:S109C	ENSP00000357153:S109C	S	+	2	0	CD1D	156418133	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-3.415000	0.00479	-1.546000	0.01717	0.655000	0.94253	TCC		PASS	0.532	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		16	122	16	122	---	---	---	---
PEA15	8682	broad.mit.edu	37	1	160182942	160182942	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:160182942G>A	ENST00000360472.4	+	3	403	c.215G>A	c.(214-216)cGt>cAt	p.R72H	PEA15_ENST00000368077.1_Missense_Mutation_p.R50H|PEA15_ENST00000368076.1_Missense_Mutation_p.R93H|PEA15_ENST00000488858.1_3'UTR	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	72	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)		p.R72H(1)		large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCTCCCGCCGTCCTGACCTA	0.542																																						uc001fvk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)CGT>CAT		phosphoprotein enriched in astrocytes 15							203.0	174.0	184.0					1																	160182942		2203	4300	6503	SO:0001583	missense	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160182942G>A	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.215G>A	1.37:g.160182942G>A	ENSP00000353660:p.Arg72His					PEA15_uc001fvl.2_Missense_Mutation_p.R93H|PEA15_uc001fvm.2_Missense_Mutation_p.R50H	p.R72H	NM_003768	NP_003759	Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	405	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		72			DED.		B1AKZ3|O00511	Missense_Mutation	SNP	ENST00000360472.4	37	c.215G>A	CCDS1199.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941894	0.92526	.	.	ENSG00000162734	ENST00000360472;ENST00000368077;ENST00000368076	D;D;D	0.86230	-2.09;-2.09;-2.09	5.56	5.56	0.83823	DEATH-like (2);Death effector (3);	0.000000	0.85682	D	0.000000	D	0.88058	0.6335	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.78314	0.984;0.991;0.965	D	0.89867	0.4020	10	0.72032	D	0.01	-2.5757	18.3055	0.90179	0.0:0.0:1.0:0.0	.	50;93;72	B1AKZ5;B1AKZ3;Q15121	.;.;PEA15_HUMAN	H	72;50;93	ENSP00000353660:R72H;ENSP00000357056:R50H;ENSP00000357055:R93H	ENSP00000353660:R72H	R	+	2	0	PEA15	158449566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.077000	0.94016	2.613000	0.88420	0.655000	0.94253	CGT		PASS	0.542	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		22	264	22	264	---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160319459	160319459	+	Splice_Site	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:160319459T>C	ENST00000294785.5	+	4	560	c.435T>C	c.(433-435)ttT>ttC	p.F145F	NCSTN_ENST00000392212.4_Splice_Site_p.F125F|NCSTN_ENST00000368063.1_Splice_Site_p.F125F|NCSTN_ENST00000535857.1_Splice_Site_p.F145F|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368065.4_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	145					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.F145F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGATGGGTTTGGTAAGTGTC	0.507																																						uc001fvx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(433-435)TTT>TTC		nicastrin precursor							84.0	72.0	76.0					1																	160319459		2203	4300	6503	SO:0001630	splice_region_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160319459T>C	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.436+1T>C	1.37:g.160319459T>C						NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Silent_p.F125F|NCSTN_uc010pjf.1_Silent_p.F145F|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	p.F145F	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	559	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		145			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.435T>C	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793926	0.50102	.	.	ENSG00000162736	ENST00000424645	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53085	-0.8488	4	.	.	.	-9.7628	11.3701	0.49694	0.0:0.0:0.0:1.0	.	.	.	.	S	3	.	.	L	+	2	0	NCSTN	158586083	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.759000	0.26461	1.903000	0.55091	0.533000	0.62120	TTG		PASS	0.507	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	Silent	47	95	47	95	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167343475	167343475	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:167343475C>G	ENST00000541643.3	+	7	626	c.464C>G	c.(463-465)gCc>gGc	p.A155G	POU2F1_ENST00000367862.5_Missense_Mutation_p.A167G|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_Missense_Mutation_p.A155G|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367866.2_Missense_Mutation_p.A178G|POU2F1_ENST00000420254.3_Missense_Mutation_p.A155G			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	155					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A155G(1)|p.A178G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACCATCTCCGCCTCTGCTGCC	0.622																																						uc001gec.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|breast(1)	5						c.(463-465)GCC>GGC		POU class 2 homeobox 1							25.0	25.0	25.0					1																	167343475		2202	4300	6502	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167343475C>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.464C>G	1.37:g.167343475C>G	ENSP00000441285:p.Ala155Gly					POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.A153G|POU2F1_uc001gee.2_Missense_Mutation_p.A155G|POU2F1_uc010plh.1_Intron|POU2F1_uc001gef.2_Missense_Mutation_p.A167G|POU2F1_uc001geg.2_Missense_Mutation_p.A53G	p.A155G	NM_002697	NP_002688	P14859	PO2F1_HUMAN			7	626	+			155					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.464C>G		.	.	.	.	.	.	.	.	.	.	C	22.4	4.289089	0.80914	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T;T	0.77620	-1.08;-1.08;-1.11;-1.08;-1.08;-1.08;-1.08;-1.08	5.77	5.77	0.91146	.	0.075290	0.51477	D	0.000100	D	0.83184	0.5199	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.67145	0.99;0.996;0.996;0.993	D;D;D;D	0.77557	0.971;0.986;0.99;0.968	T	0.78826	-0.2051	10	0.30854	T	0.27	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	155;167;153;155	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	G	178;155;32;153;155;155;167;63	ENSP00000356840:A178G;ENSP00000391523:A155G;ENSP00000444625:A32G;ENSP00000356839:A153G;ENSP00000414660:A155G;ENSP00000441285:A155G;ENSP00000356836:A167G;ENSP00000415993:A63G	ENSP00000356836:A167G	A	+	2	0	POU2F1	165610099	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.453000	0.80700	2.732000	0.93576	0.650000	0.86243	GCC		PASS	0.622	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		17	38	17	38	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169564103	169564103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:169564103G>T	ENST00000263686.6	-	13	2151	c.2114C>A	c.(2113-2115)tCa>tAa	p.S705*	SELP_ENST00000367786.2_Nonsense_Mutation_p.S643*|SELP_ENST00000367791.2_Nonsense_Mutation_p.S519*|SELP_ENST00000367792.2_Nonsense_Mutation_p.S521*|SELP_ENST00000458599.2_Nonsense_Mutation_p.S521*|SELP_ENST00000367788.2_Nonsense_Mutation_p.S643*|SELP_ENST00000367794.2_Nonsense_Mutation_p.S643*|SELP_ENST00000367793.2_Nonsense_Mutation_p.S643*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	705	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.S705*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ATGTAGTTCTGAGCATTTCAC	0.398																																						uc001ggi.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2113-2115)TCA>TAA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						103.0	93.0	97.0					1																	169564103		2203	4300	6503	SO:0001587	stop_gained	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169564103G>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2114C>A	1.37:g.169564103G>T	ENSP00000263686:p.Ser705*					SELP_uc001ggh.2_Nonsense_Mutation_p.S540*|SELP_uc009wvr.2_Nonsense_Mutation_p.S705*	p.S705*	NM_003005	NP_002996	P16109	LYAM3_HUMAN			13	2179	-	all_hematologic(923;0.208)		705			Extracellular (Potential).|Sushi 9.		Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	c.2114C>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	36	5.602469	0.96614	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.	.	.	5.22	3.35	0.38373	.	1.070140	0.07273	N	0.869436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.0435	8.7049	0.34349	0.1781:0.0:0.8219:0.0	.	.	.	.	X	519;705;704;521;705;705;643;643;521;519;643;643;628	.	ENSP00000263686:S705X	S	-	2	0	SELP	167830727	0.227000	0.23707	0.001000	0.08648	0.130000	0.20726	1.714000	0.37961	0.699000	0.31761	-0.222000	0.12452	TCA		PASS	0.398	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		11	91	11	91	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196973805	196973805	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:196973805T>C	ENST00000256785.4	+	9	1454	c.1345T>C	c.(1345-1347)Tgt>Cgt	p.C449R	CFHR5_ENST00000367414.5_Missense_Mutation_p.C473R			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	449	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.C449R(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TACTGCATATTGTGGGCCCCC	0.368																																						uc001gts.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1345-1347)TGT>CGT		complement factor H-related 5 precursor							125.0	123.0	124.0					1																	196973805		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196973805T>C	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1345T>C	1.37:g.196973805T>C	ENSP00000256785:p.Cys449Arg						p.C449R	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			9	1473	+			449			Sushi 8.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1345T>C	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822236	0.71028	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.99778	-6.73;-6.73	3.69	3.69	0.42338	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99885	0.9945	H	0.99909	4.93	0.49915	D	0.999839	D	0.89917	1.0	D	0.97110	1.0	D	0.96744	0.9549	9	0.87932	D	0	.	8.9887	0.36010	0.0:0.0:0.0:1.0	.	449	Q9BXR6	FHR5_HUMAN	R	473;449	ENSP00000356384:C473R;ENSP00000256785:C449R	ENSP00000256785:C449R	C	+	1	0	CFHR5	195240428	0.987000	0.35691	0.991000	0.47740	0.814000	0.46013	2.404000	0.44539	1.422000	0.47177	0.402000	0.26972	TGT		PASS	0.368	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		7	238	7	238	---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203188958	203188958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:203188958C>T	ENST00000367229.1	-	8	783	c.749G>A	c.(748-750)tGg>tAg	p.W250*	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W241*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W231*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	250					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.W250*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTTCTGCAGCCACTGTTGCAC	0.582											OREG0006436	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc001gzn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(748-750)TGG>TAG		chitotriosidase precursor							38.0	35.0	36.0					1																	203188958		2203	4300	6503	SO:0001587	stop_gained	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188958C>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.749G>A	1.37:g.203188958C>T	ENSP00000356198:p.Trp250*		OREG0006436	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2135	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Nonsense_Mutation_p.W41*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.W241*	p.W250*	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			8	845	-			250					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	c.749G>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346645	0.61073	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	5.06	5.06	0.68205	.	0.547496	0.15854	N	0.241324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6273	15.9415	0.79758	0.0:1.0:0.0:0.0	.	.	.	.	X	250;231;241	.	ENSP00000255427:W231X	W	-	2	0	CHIT1	201455581	1.000000	0.71417	0.977000	0.42913	0.092000	0.18411	6.447000	0.73465	2.310000	0.77875	0.655000	0.94253	TGG		PASS	0.582	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		25	42	25	42	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204228610	204228610	+	Silent	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:204228610C>A	ENST00000272203.3	-	8	1099	c.783G>T	c.(781-783)ggG>ggT	p.G261G	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Silent_p.G281G	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	261	Pro-rich.							p.G261G(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTTCCCCACCCCCTGGCACTC	0.662																																						uc001hau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(781-783)GGG>GGT		phosphoinositol 3-phosphate-binding protein-3							40.0	42.0	41.0					1																	204228610		2203	4300	6503	SO:0001819	synonymous_variant	22874							g.chr1:204228610C>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.783G>T	1.37:g.204228610C>A						PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	p.G261G	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1100	-	all_cancers(21;0.0222)|Breast(84;0.179)		261			Pro-rich.		A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.783G>T	CCDS1444.1																																																																																				PASS	0.662	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		31	68	31	68	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220170329	220170329	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:220170329G>A	ENST00000366923.3	-	18	2806	c.2537C>T	c.(2536-2538)cCt>cTt	p.P846L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	846	3 X 57 AA approximate repeats.|WHEP-TRS 2.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.P846L(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACTGACCTTAGGGGATTTTTC	0.388																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2536-2538)CCT>CTT		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						128.0	135.0	133.0					1																	220170329		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220170329G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2537C>T	1.37:g.220170329G>A	ENSP00000355890:p.Pro846Leu					EPRS_uc010puf.1_Missense_Mutation_p.P597L|EPRS_uc001hlz.1_Missense_Mutation_p.P853L	p.P846L	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	18	2807	-			846			WHEP-TRS 2.|3 X 57 AA approximate repeats.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.2537C>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352640	0.24512	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.34667	1.35	5.76	4.85	0.62838	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.253141	0.47093	N	0.000249	T	0.47135	0.1429	M	0.87180	2.865	0.43761	D	0.996279	B;B;B	0.15719	0.009;0.014;0.002	B;B;B	0.22152	0.015;0.038;0.005	T	0.48937	-0.8990	10	0.45353	T	0.12	-2.2219	14.604	0.68463	0.0696:0.0:0.9304:0.0	.	870;853;846	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	L	846;853;870	ENSP00000355890:P846L	ENSP00000355890:P846L	P	-	2	0	EPRS	218236952	1.000000	0.71417	0.009000	0.14445	0.072000	0.16883	6.152000	0.71812	1.445000	0.47624	0.655000	0.94253	CCT		PASS	0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		76	278	76	278	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220179484	220179484	+	Missense_Mutation	SNP	G	G	C	rs372683669		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:220179484G>C	ENST00000366923.3	-	15	2183	c.1914C>G	c.(1912-1914)gaC>gaG	p.D638E		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	638	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.D638E(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TAAAGTCCTCGTCTTTTCCTA	0.363																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1912-1914)GAC>GAG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						181.0	166.0	171.0					1																	220179484		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220179484G>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1914C>G	1.37:g.220179484G>C	ENSP00000355890:p.Asp638Glu					EPRS_uc010puf.1_Missense_Mutation_p.D389E|EPRS_uc001hlz.1_Missense_Mutation_p.D645E|EPRS_uc009xdt.1_Intron	p.D638E	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	15	2184	-			638			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1914C>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488513	0.44249	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.07021	3.23	5.66	-2.87	0.05700	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.044956	0.85682	D	0.000000	T	0.07548	0.0190	L	0.36672	1.1	0.54753	D	0.999982	P;B;P	0.45212	0.499;0.23;0.853	B;B;P	0.46585	0.432;0.387;0.521	T	0.16335	-1.0406	10	0.42905	T	0.14	-33.0723	7.4596	0.27287	0.4487:0.1968:0.3545:0.0	.	662;645;638	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	E	638;645;662	ENSP00000355890:D638E	ENSP00000355890:D638E	D	-	3	2	EPRS	218246107	0.294000	0.24380	0.970000	0.41538	0.996000	0.88848	-0.299000	0.08254	-0.680000	0.05211	-0.238000	0.12139	GAC		PASS	0.363	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		53	191	53	191	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220198593	220198593	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:220198593G>T	ENST00000366923.3	-	7	900	c.631C>A	c.(631-633)Cac>Aac	p.H211N		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	211	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.H211N(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TGCCCAATGTGTAAGTAACTA	0.323																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(631-633)CAC>AAC		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						95.0	91.0	93.0					1																	220198593		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220198593G>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.631C>A	1.37:g.220198593G>T	ENSP00000355890:p.His211Asn					EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.H211N|EPRS_uc009xdt.1_Missense_Mutation_p.H12N	p.H211N	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	7	901	-			211			"Glutamyl-tRNA synthetase.|""HIGH"" region."	ATP (By similarity).	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.631C>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019676	0.75275	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.80653	-1.4	5.63	5.63	0.86233	Aminoacyl-tRNA synthetase, class I, conserved site (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	H	0.99464	4.58	0.80722	D	1	D;D;P	0.76494	0.983;0.999;0.947	D;D;P	0.79784	0.976;0.993;0.805	D	0.96781	0.9575	10	0.87932	D	0	-24.303	20.0529	0.97634	0.0:0.0:1.0:0.0	.	211;211;211	F5H7I7;Q3KQZ8;P07814	.;.;SYEP_HUMAN	N	211	ENSP00000355890:H211N	ENSP00000355890:H211N	H	-	1	0	EPRS	218265216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.545000	0.98095	2.814000	0.96858	0.591000	0.81541	CAC		PASS	0.323	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		16	73	16	73	---	---	---	---
ARF1	375	broad.mit.edu	37	1	228285654	228285654	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:228285654C>T	ENST00000541182.1	+	5	748	c.486C>T	c.(484-486)agC>agT	p.S162S	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.S162S|ARF1_ENST00000272102.5_Silent_p.S162S|MIR3620_ENST00000584469.1_RNA|C1orf35_ENST00000472617.1_5'Flank	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	162					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.S162S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GCGCCACCAGCGGCGACGGGC	0.612																																						uc001hrr.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(484-486)AGC>AGT		ADP-ribosylation factor 1							70.0	63.0	65.0					1																	228285654		2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285654C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.486C>T	1.37:g.228285654C>T						ARF1_uc001hrs.2_Silent_p.S162S|ARF1_uc001hrt.2_Missense_Mutation_p.R84W|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.S162S|ARF1_uc001hrv.2_Silent_p.S162S|ARF1_uc001hrw.2_Silent_p.S162S	p.S162S	NM_001024226	NP_001019397	P84077	ARF1_HUMAN			5	714	+		Prostate(94;0.0405)	162					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.486C>T	CCDS1565.1																																																																																				PASS	0.612	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		4	100	4	100	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233482294	233482294	+	Silent	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:233482294A>T	ENST00000366624.3	+	2	1173	c.912A>T	c.(910-912)acA>acT	p.T304T	MLK4_ENST00000366623.3_Silent_p.T304T	NM_032435.2	NP_115811.2												p.T304T(1)									AAATGAGCACAGCAGGCACCT	0.463																																						uc001hvt.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(910-912)ACA>ACT		mixed lineage kinase 4							101.0	94.0	96.0					1																	233482294		2203	4300	6503	SO:0001819	synonymous_variant	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233482294A>T																												ENST00000366624.3:c.912A>T	1.37:g.233482294A>T						KIAA1804_uc001hvs.1_Silent_p.T304T	p.T304T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			2	1173	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	304			Protein kinase.			Silent	SNP	ENST00000366624.3	37	c.912A>T	CCDS1598.1																																																																																				PASS	0.463	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			53	100	53	100	---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245018908	245018908	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:245018908G>A	ENST00000283179.9	-	12	2333	c.2170C>T	c.(2170-2172)Cct>Tct	p.P724S	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.P705S			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	724	Gly-rich.|RNA-binding RGG-box.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P705S(1)|p.P724S(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGATTCCCAGGGGCTAAAAGA	0.463																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2170-2172)CCT>TCT		heterogeneous nuclear ribonucleoprotein U							46.0	47.0	47.0					1																	245018908		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245018908G>A	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2170C>T	1.37:g.245018908G>A	ENSP00000283179:p.Pro724Ser					HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.P448S|HNRNPU_uc001iba.1_Missense_Mutation_p.P705S	p.P724S	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		12	2388	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		724			RNA-binding RGG-box.|Gly-rich.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.2170C>T	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283160	0.40394	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.46063	0.89;0.88	5.51	4.6	0.57074	.	0.270733	0.42420	D	0.000716	T	0.49389	0.1554	L	0.27053	0.805	0.52501	D	0.999955	P;D;D	0.57571	0.939;0.965;0.98	P;B;D	0.70227	0.565;0.362;0.968	T	0.43015	-0.9417	9	.	.	.	-7.2665	14.2358	0.65925	0.0721:0.0:0.9279:0.0	.	705;724;448	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	S	705;724;649	ENSP00000393151:P705S;ENSP00000283179:P724S	.	P	-	1	0	HNRNPU	243085531	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.918000	0.63376	1.315000	0.45114	0.591000	0.81541	CCT		PASS	0.463	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		23	124	23	124	---	---	---	---
SMYD3	64754	broad.mit.edu	37	1	246027182	246027182	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr1:246027182C>T	ENST00000388985.4	-	9	819	c.820G>A	c.(820-822)Gat>Aat	p.D274N	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Missense_Mutation_p.D215N|SMYD3_ENST00000490107.1_Missense_Mutation_p.D215N			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	274					cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.D274N(1)|p.D215N(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GTTAGCATATCAGCATCCTGC	0.418																																						uc001ibl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(820-822)GAT>AAT		SET and MYND domain containing 3							134.0	121.0	125.0					1																	246027182		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246027182C>T	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.820G>A	1.37:g.246027182C>T	ENSP00000373637:p.Asp274Asn					SMYD3_uc001ibk.2_Missense_Mutation_p.D215N|SMYD3_uc001ibi.2_Missense_Mutation_p.D85N|SMYD3_uc001ibj.2_Missense_Mutation_p.D85N	p.D274N	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	9	915	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	274					A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.820G>A	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303156	0.40795	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	T;T;T;T	0.44881	1.86;1.86;1.85;0.91	5.53	5.53	0.82687	.	0.636639	0.15775	N	0.245246	T	0.29914	0.0748	L	0.43152	1.355	0.41392	D	0.98762	P;B	0.47545	0.897;0.046	B;B	0.34536	0.185;0.016	T	0.09292	-1.0681	10	0.14656	T	0.56	-10.3222	13.0211	0.58787	0.0:0.9229:0.0:0.0771	.	274;85	Q9H7B4;B3KN46	SMYD3_HUMAN;.	N	215;215;104;274;85	ENSP00000444184:D215N;ENSP00000419184:D215N;ENSP00000373637:D274N;ENSP00000375712:D85N	ENSP00000373637:D274N	D	-	1	0	SMYD3	244093805	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.545000	0.53648	2.598000	0.87819	0.591000	0.81541	GAT		PASS	0.418	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		9	98	9	98	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1842948	1842948	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:1842948A>G	ENST00000399161.2	-	21	3800	c.3053T>C	c.(3052-3054)gTc>gCc	p.V1018A	MYT1L_ENST00000428368.2_Missense_Mutation_p.V1016A|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Missense_Mutation_p.V14A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1018					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V1018A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTGCCGCTGACGTGGCCTGA	0.652																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(3052-3054)GTC>GCC		myelin transcription factor 1-like							21.0	26.0	24.0					2																	1842948		2040	4185	6225	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1842948A>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3053T>C	2.37:g.1842948A>G	ENSP00000382114:p.Val1018Ala					MYT1L_uc002qxd.2_Missense_Mutation_p.V1016A|MYT1L_uc010ewk.2_Missense_Mutation_p.V14A	p.V1018A	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3880	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1018			C2HC-type 6.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3053T>C		.	.	.	.	.	.	.	.	.	.	A	17.72	3.459941	0.63401	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T	0.49720	0.77;0.77	5.57	5.57	0.84162	.	0.111901	0.64402	D	0.000010	T	0.58018	0.2093	L	0.39898	1.24	0.54753	D	0.999981	D;D;D	0.67145	0.996;0.992;0.99	D;P;P	0.75484	0.986;0.876;0.803	T	0.51529	-0.8694	10	0.16896	T	0.51	-39.5643	15.7207	0.77708	1.0:0.0:0.0:0.0	.	14;1018;1016	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	A	1018;964;14;72;1016	ENSP00000382114:V1018A;ENSP00000396103:V1016A	ENSP00000295067:V964A	V	-	2	0	MYT1L	1821955	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.332000	0.65911	2.116000	0.64780	0.460000	0.39030	GTC		PASS	0.652	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	22	4	22	---	---	---	---
TMEM214	54867	broad.mit.edu	37	2	27260540	27260540	+	Silent	SNP	C	C	T	rs77468296	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:27260540C>T	ENST00000238788.9	+	9	1184	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	TMEM214_ENST00000404032.3_Silent_p.T329T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	374					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.T374T(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAGAGCCACCCCTAGCTGTC	0.552																																						uc002ria.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1120-1122)ACC>ACT		transmembrane protein 214 isoform 1							102.0	104.0	103.0					2																	27260540		1918	4123	6041	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27260540C>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1122C>T	2.37:g.27260540C>T						TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.T329T	p.T374T	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			9	1232	+			374					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.1122C>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088226	0.20390	.	.	ENSG00000119777	ENST00000425720	.	.	.	5.69	3.88	0.44766	.	.	.	.	.	T	0.48466	0.1501	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43829	-0.9367	4	.	.	.	-26.1563	4.5415	0.12059	0.0:0.5918:0.1682:0.2401	.	.	.	.	L	133	.	.	P	+	2	0	TMEM214	27114044	0.713000	0.27926	1.000000	0.80357	0.976000	0.68499	-0.166000	0.09954	1.410000	0.46936	0.561000	0.74099	CCC		PASS	0.552	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		24	169	24	169	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32927940	32927940	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:32927940G>C	ENST00000317907.4	+	10	1417	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	396								p.E396Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GACAAAACTTGAGAAAGGAAG	0.433																																						uc002rom.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1186-1188)GAG>CAG		tetratricopeptide repeat domain 27							146.0	138.0	141.0					2																	32927940		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32927940G>C	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1186G>C	2.37:g.32927940G>C	ENSP00000313953:p.Glu396Gln					TTC27_uc010ymx.1_Missense_Mutation_p.E346Q	p.E396Q	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			10	1417	+			396					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1186G>C	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814269	0.70912	.	.	ENSG00000018699	ENST00000317907;ENST00000438654	T	0.34072	1.38	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.88906	2.99	0.80722	D	1	P	0.51653	0.947	P	0.52909	0.713	T	0.69053	-0.5247	10	0.87932	D	0	-19.0673	18.5497	0.91058	0.0:0.0:1.0:0.0	.	396	Q6P3X3	TTC27_HUMAN	Q	396;38	ENSP00000313953:E396Q	ENSP00000313953:E396Q	E	+	1	0	TTC27	32781444	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.426000	0.90273	2.667000	0.90743	0.561000	0.74099	GAG		PASS	0.433	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		27	225	27	225	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33752259	33752259	+	Missense_Mutation	SNP	G	G	T	rs371456335		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:33752259G>T	ENST00000403687.3	+	10	1603	c.863G>T	c.(862-864)cGc>cTc	p.R288L	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R288L|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R288L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	288	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R288L(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGCAATTACCGCAAGGCCTTT	0.458																																						uc002rox.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(862-864)CGC>CTC		RAS guanyl releasing protein 3 (calcium and		G	LEU/ARG,LEU/ARG,LEU/ARG	1,3783		0,1,1891	62.0	60.0	61.0		863,863,863	5.7	1.0	2		61	0,8222		0,0,4111	no	missense,missense,missense	RASGRP3	NM_001139488.1,NM_015376.2,NM_170672.2	102,102,102	0,1,6002	TT,TG,GG		0.0,0.0264,0.0083	probably-damaging,probably-damaging,probably-damaging	288/691,288/690,288/691	33752259	1,12005	1892	4111	6003	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33752259G>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.863G>T	2.37:g.33752259G>T	ENSP00000384192:p.Arg288Leu					RASGRP3_uc010ync.1_Missense_Mutation_p.R288L|RASGRP3_uc002roy.2_Missense_Mutation_p.R288L	p.R288L	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			11	1490	+	all_hematologic(175;0.115)		288			Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.863G>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384026	0.95967	2.64E-4	0.0	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.65732	-0.17;-0.17;-0.17	5.74	5.74	0.90152	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90158	0.4226	10	0.56958	D	0.05	-15.1522	19.9403	0.97159	0.0:0.0:1.0:0.0	.	288;288	D6W583;Q8IV61	.;GRP3_HUMAN	L	288	ENSP00000385886:R288L;ENSP00000384192:R288L;ENSP00000383917:R288L	ENSP00000385886:R288L	R	+	2	0	RASGRP3	33605763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.712000	0.92718	0.650000	0.86243	CGC		PASS	0.458	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		7	71	7	71	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39485574	39485574	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:39485574T>C	ENST00000263881.3	-	31	2709	c.2385A>G	c.(2383-2385)atA>atG	p.I795M	MAP4K3_ENST00000437545.1_Missense_Mutation_p.I711M|MAP4K3_ENST00000341681.5_Missense_Mutation_p.I774M|MAP4K3_ENST00000536018.1_Missense_Mutation_p.I348M	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	795	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.I795M(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTACTATTTTTATACAACCTA	0.294																																						uc002rro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(2383-2385)ATA>ATG		mitogen-activated protein kinase kinase kinase							45.0	50.0	48.0					2																	39485574		2197	4292	6489	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39485574T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2385A>G	2.37:g.39485574T>C	ENSP00000263881:p.Ile795Met					MAP4K3_uc002rrp.2_Missense_Mutation_p.I774M|MAP4K3_uc010yns.1_Missense_Mutation_p.I348M	p.I795M	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			31	2476	-		all_hematologic(82;0.211)	795			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2385A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927536	0.52759	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.76	2.17	0.27698	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	L	0.53249	1.67	0.58432	D	0.999995	P;D	0.59357	0.948;0.985	P;P	0.61477	0.66;0.889	T	0.01059	-1.1465	10	0.54805	T	0.06	.	8.4315	0.32761	0.1292:0.0:0.1346:0.7362	.	774;795	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	M	795;711;774;91;348	ENSP00000263881:I795M;ENSP00000416958:I711M;ENSP00000345434:I774M;ENSP00000440580:I348M	ENSP00000263881:I795M	I	-	3	3	MAP4K3	39339078	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	0.332000	0.19751	0.928000	0.37168	0.383000	0.25322	ATA		PASS	0.294	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		23	70	23	70	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49217732	49217732	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:49217732T>A	ENST00000406846.2	-	5	538	c.419A>T	c.(418-420)aAg>aTg	p.K140M	FSHR_ENST00000304421.4_Missense_Mutation_p.K140M|FSHR_ENST00000541117.1_De_novo_Start_InFrame|FSHR_ENST00000346173.3_Missense_Mutation_p.K140M|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	140					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.K140M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGAATGAATCTTGTGAACATC	0.383									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(418-420)AAG>ATG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						143.0	153.0	150.0					2																	49217732		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49217732T>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.419A>T	2.37:g.49217732T>A	ENSP00000384708:p.Lys140Met					FSHR_uc002rwx.2_Missense_Mutation_p.K140M|FSHR_uc010fbn.2_Missense_Mutation_p.K140M|FSHR_uc010fbo.1_RNA	p.K140M	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	493	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	140			Extracellular (Potential).|LRR 4.		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.419A>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957461	0.73902	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;T;D	0.83335	-1.71;-1.71;0.31;-1.71	5.15	5.15	0.70609	.	0.051611	0.85682	D	0.000000	D	0.91355	0.7273	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.92226	0.5788	9	.	.	.	.	13.9159	0.63897	0.0:0.0:0.0:1.0	.	140;140;140	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	M	140	ENSP00000384708:K140M;ENSP00000333908:K140M;ENSP00000306780:K140M;ENSP00000415504:K140M	.	K	-	2	0	FSHR	49071236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.107000	0.64603	2.146000	0.66826	0.482000	0.46254	AAG		PASS	0.383	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			33	132	33	132	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50723176	50723176	+	Silent	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:50723176T>C	ENST00000406316.2	-	15	4413	c.2937A>G	c.(2935-2937)tcA>tcG	p.S979S	NRXN1_ENST00000401669.2_Silent_p.S979S|NRXN1_ENST00000405472.3_Silent_p.S971S|NRXN1_ENST00000406859.3_Silent_p.S979S|NRXN1_ENST00000401710.1_5'UTR|NRXN1_ENST00000404971.1_Silent_p.S1019S|NRXN1_ENST00000402717.3_Silent_p.S971S|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	979	Laminin G-like 5. {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.S1020S(1)|p.S979S(1)|p.S1019S(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)			GAGGTTTATTTGAGCTTCCTT	0.398																																						uc010fbq.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(3055-3057)TCA>TCG		neurexin 1 isoform alpha2 precursor							131.0	114.0	119.0					2																	50723176		1974	4181	6155	SO:0001819	synonymous_variant	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.chr2:50723176T>C	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.2937A>G	2.37:g.50723176T>C						NRXN1_uc002rxb.3_Silent_p.S651S|NRXN1_uc002rxe.3_Silent_p.S979S|NRXN1_uc002rxc.1_RNA	p.S1019S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4534	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	168			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.3057A>G	CCDS54360.1																																																																																				PASS	0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	33	3	33	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74042951	74042951	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:74042951G>T	ENST00000409561.1	+	3	1722	c.1601G>T	c.(1600-1602)gGc>gTc	p.G534V		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	534								p.G534V(1)|p.G504V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GTGGTTGTTGGCAGTGCTACA	0.493																																						uc002sjr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1600-1602)GGC>GTC		hypothetical protein LOC388960							91.0	89.0	90.0					2																	74042951		1973	4162	6135	SO:0001583	missense	388960							g.chr2:74042951G>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1601G>T	2.37:g.74042951G>T	ENSP00000387124:p.Gly534Val						p.G534V	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1722	+			534						Missense_Mutation	SNP	ENST00000409561.1	37	c.1601G>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	2.444	-0.327841	0.05314	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	4.17	-1.42	0.08913	.	1.050320	0.07485	N	0.904662	T	0.25717	0.0626	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	9	0.37606	T	0.19	0.0242	4.0927	0.09976	0.0953:0.4576:0.2913:0.1558	.	534	A6NCI8	CB078_HUMAN	V	534;504	.	ENSP00000340692:G504V	G	+	2	0	C2orf78	73896459	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.280000	0.08468	-0.084000	0.12595	-0.309000	0.09137	GGC		PASS	0.493	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		10	37	10	37	---	---	---	---
IGKV3D-11	28876	broad.mit.edu	37	2	90212098	90212098	+	RNA	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:90212098C>G	ENST00000390277.2	+	0	287									immunoglobulin kappa variable 3D-11																		TGGCCAGGCTCCCAGGCTCCT	0.592																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							43.0	52.0	49.0					2																	90212098		1841	4084	5925			0							g.chr2:90212098C>G	X17264		2p11.2	2012-02-08			ENSG00000211632	ENSG00000211632		"""Immunoglobulins / IGK locus"""	5823	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151563		2.37:g.90212098C>G														26		+									RNA	SNP	ENST00000390277.2	37	c.3522C>G																																																																																					PASS	0.592	IGKV3D-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323138.2	NG_000833		37	129	37	129	---	---	---	---
UNC50	25972	broad.mit.edu	37	2	99234637	99234637	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:99234637C>T	ENST00000357765.2	+	6	802	c.650C>T	c.(649-651)cCa>cTa	p.P217L	UNC50_ENST00000409347.1_Missense_Mutation_p.P234L|UNC50_ENST00000409975.1_Missense_Mutation_p.P234L	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	217					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)	p.P217L(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CCAGCATTGCCATTTTTGAAA	0.353																																						uc002szc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)CCA>CTA		unc-50 homolog							40.0	39.0	39.0					2																	99234637		2201	4299	6500	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99234637C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.650C>T	2.37:g.99234637C>T	ENSP00000350409:p.Pro217Leu					C2orf64_uc002sza.2_Intron|UNC50_uc002szb.2_Missense_Mutation_p.P217L|UNC50_uc010yvl.1_Missense_Mutation_p.P234L	p.P217L	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN			6	802	+			217			Cytoplasmic (Potential).		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.650C>T	CCDS2035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.449561|4.449561	0.84101|0.84101	.|.	.|.	ENSG00000115446|ENSG00000115446	ENST00000423713|ENST00000357765;ENST00000409975;ENST00000409347;ENST00000393493	.|.	.|.	.|.	6.06|6.06	5.18|5.18	0.71444|0.71444	.|.	.|0.097783	.|0.64402	.|D	.|0.000001	D|D	0.85957|0.85957	0.5818|0.5818	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.89770|0.89770	0.3953|0.3953	5|9	.|0.87932	.|D	.|0	-10.9956|-10.9956	16.5384|16.5384	0.84377|0.84377	0.0:0.8694:0.1306:0.0|0.0:0.8694:0.1306:0.0	.|.	.|217	.|Q53HI1	.|UNC50_HUMAN	Y|L	50|217;234;234;91	.|.	.|ENSP00000350409:P217L	H|P	+|+	1|2	0|0	UNC50|UNC50	98601069|98601069	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.931000|0.931000	0.56810|0.56810	7.365000|7.365000	0.79537|0.79537	1.564000|1.564000	0.49628|0.49628	0.655000|0.655000	0.94253|0.94253	CAT|CCA		PASS	0.353	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		6	22	6	22	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711809	155711809	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:155711809C>A	ENST00000295101.2	+	3	1967	c.1490C>A	c.(1489-1491)tCt>tAt	p.S497Y		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	497					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.S497Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAAATGAACTCTGATCGCTTC	0.418																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1489-1491)TCT>TAT		potassium inwardly-rectifying channel J3	Halothane(DB01159)						20.0	20.0	20.0					2																	155711809		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711809C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1490C>A	2.37:g.155711809C>A	ENSP00000295101:p.Ser497Tyr					KCNJ3_uc010zce.1_3'UTR	p.S497Y	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1685	+			497			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1490C>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883391	0.72410	.	.	ENSG00000162989	ENST00000295101	D	0.90504	-2.68	5.66	5.66	0.87406	.	0.778058	0.11999	N	0.508994	D	0.87696	0.6242	N	0.19112	0.55	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	D	0.88279	0.2935	10	0.87932	D	0	.	19.1131	0.93326	0.0:1.0:0.0:0.0	.	497	P48549	IRK3_HUMAN	Y	497	ENSP00000295101:S497Y	ENSP00000295101:S497Y	S	+	2	0	KCNJ3	155420055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.764000	0.85297	2.832000	0.97577	0.655000	0.94253	TCT		PASS	0.418	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		3	23	3	23	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162902048	162902048	+	Nonsense_Mutation	SNP	G	G	T	rs141276765		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:162902048G>T	ENST00000360534.3	-	5	920	c.360C>A	c.(358-360)taC>taA	p.Y120*		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	120					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y120*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTACCTTCACGTAGTTGTATT	0.299																																						uc002ubz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(358-360)TAC>TAA		dipeptidylpeptidase IV	Sitagliptin(DB01261)						75.0	79.0	78.0					2																	162902048		2203	4299	6502	SO:0001587	stop_gained	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162902048G>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.360C>A	2.37:g.162902048G>T	ENSP00000353731:p.Tyr120*					DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA	p.Y120*	NM_001935	NP_001926	P27487	DPP4_HUMAN			5	921	-			120			Extracellular (Potential).		Q53TN1	Nonsense_Mutation	SNP	ENST00000360534.3	37	c.360C>A	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420561	0.83559	.	.	ENSG00000197635	ENST00000360534	.	.	.	4.15	-1.19	0.09585	.	0.123056	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0037	8.4803	0.33038	0.6295:0.0:0.3705:0.0	.	.	.	.	X	120	.	ENSP00000353731:Y120X	Y	-	3	2	DPP4	162610294	0.579000	0.26725	0.999000	0.59377	0.958000	0.62258	0.758000	0.26447	-0.055000	0.13244	-0.605000	0.04089	TAC		PASS	0.299	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			48	116	48	116	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164591418	164591418	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:164591418A>G	ENST00000333129.3	-	2	334	c.20T>C	c.(19-21)gTt>gCt	p.V7A	FIGN_ENST00000482917.1_Intron|FIGN_ENST00000409634.1_Missense_Mutation_p.V7A	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	7					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.V7A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CATACCATAAACACTGGTGCT	0.378																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(19-21)GTT>GCT		fidgetin							112.0	105.0	107.0					2																	164591418		1874	4096	5970	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164591418A>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.20T>C	2.37:g.164591418A>G	ENSP00000333836:p.Val7Ala						p.V7A	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			2	331	-			7					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.20T>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629341	0.28978	.	.	ENSG00000182263	ENST00000409634;ENST00000333129	T	0.20881	2.04	6.08	6.08	0.98989	.	3.748690	0.02385	U	0.079162	T	0.28366	0.0701	L	0.40543	1.245	0.44359	D	0.997257	B	0.27416	0.178	B	0.28638	0.092	T	0.05162	-1.0902	10	0.39692	T	0.17	0.6677	16.6512	0.85203	1.0:0.0:0.0:0.0	.	7	Q5HY92	FIGN_HUMAN	A	7	ENSP00000333836:V7A	ENSP00000333836:V7A	V	-	2	0	FIGN	164299664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.333000	0.79357	0.482000	0.46254	GTT		PASS	0.378	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		30	82	30	82	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399830	179399830	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:179399830C>G	ENST00000591111.1	-	308	96813	c.96589G>C	c.(96589-96591)Gaa>Caa	p.E32197Q	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24965Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24773Q|TTN_ENST00000359218.5_Missense_Mutation_p.E24898Q|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31270Q|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33838Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E24898Q(1)|p.E31268Q(1)|p.E31270Q(1)|p.E24773Q(1)|p.E24965Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGATGTTTCAACACAACGA	0.383																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(93808-93810)GAA>CAA		titin isoform N2-A							123.0	118.0	120.0					2																	179399830		1907	4125	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399830C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96589G>C	2.37:g.179399830C>G	ENSP00000465570:p.Glu32197Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24965Q|TTN_uc010zfi.1_Missense_Mutation_p.E24898Q|TTN_uc010zfj.1_Missense_Mutation_p.E24773Q	p.E31270Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94032	-			32197					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93808G>C		.	.	.	.	.	.	.	.	.	.	C	18.33	3.599487	0.66332	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74581	0.3735	L	0.40543	1.245	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.75903	-0.3153	9	0.87932	D	0	.	19.8874	0.96916	0.0:1.0:0.0:0.0	.	24773;24898;24965;32197	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31270;24773;24965;24898;24770	ENSP00000343764:E31270Q;ENSP00000434586:E24773Q;ENSP00000340554:E24965Q;ENSP00000352154:E24898Q	ENSP00000340554:E24965Q	E	-	1	0	TTN	179108076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.697000	0.92050	0.557000	0.71058	GAA		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	219	31	219	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179408666	179408666	+	Silent	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:179408666A>G	ENST00000591111.1	-	296	91506	c.91282T>C	c.(91282-91284)Ttg>Ctg	p.L30428L	RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L23196L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.L23004L|TTN_ENST00000359218.5_Silent_p.L23129L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L29501L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.L32069L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30428	Ig-like 137.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L29501L(1)|p.L29499L(1)|p.L23004L(1)|p.L23129L(1)|p.L23196L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATTAGCAATGAGTAGCTC	0.448																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(88501-88503)TTG>CTG		titin isoform N2-A							176.0	164.0	168.0					2																	179408666		1946	4145	6091	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408666A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91282T>C	2.37:g.179408666A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L23196L|TTN_uc010zfi.1_Silent_p.L23129L|TTN_uc010zfj.1_Silent_p.L23004L	p.L29501L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		295	88725	-			30428					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.88501T>C																																																																																					PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	176	63	176	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179417067	179417067	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:179417067A>G	ENST00000591111.1	-	285	85861	c.85637T>C	c.(85636-85638)aTt>aCt	p.I28546T	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I21314T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I21122T|TTN_ENST00000359218.5_Missense_Mutation_p.I21247T|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I27619T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I30187T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28546	Ig-like 132.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I21247T(1)|p.I21314T(1)|p.I27617T(1)|p.I21122T(1)|p.I27619T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCAAAGTAATTTTGTTTTC	0.383																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(82855-82857)ATT>ACT		titin isoform N2-A							89.0	84.0	86.0					2																	179417067		1878	4100	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417067A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85637T>C	2.37:g.179417067A>G	ENSP00000465570:p.Ile28546Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I21314T|TTN_uc010zfi.1_Missense_Mutation_p.I21247T|TTN_uc010zfj.1_Missense_Mutation_p.I21122T	p.I27619T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	83080	-			28546					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82856T>C		.	.	.	.	.	.	.	.	.	.	A	13.99	2.401501	0.42613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19967	0.0480	N	0.00885	-1.115	0.32096	N	0.591274	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12837	0.005;0.005;0.008;0.008	T	0.23619	-1.0183	9	0.87932	D	0	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	21122;21247;21314;28546	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27619;21122;21314;21247;21119	ENSP00000343764:I27619T;ENSP00000434586:I21122T;ENSP00000340554:I21314T;ENSP00000352154:I21247T	ENSP00000340554:I21314T	I	-	2	0	TTN	179125313	1.000000	0.71417	0.992000	0.48379	0.840000	0.47671	5.140000	0.64807	2.324000	0.78689	0.533000	0.62120	ATT		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	98	33	98	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610450	179610450	+	Intron	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:179610450G>C	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.F5559L|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAACAGTGAACCTTCTTC	0.418																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16675-16677)TTC>TTG		titin isoform novex-3							123.0	121.0	122.0					2																	179610450		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610450G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3802C>G	2.37:g.179610450G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.F5559L	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16901	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16677C>G		.	.	.	.	.	.	.	.	.	.	G	15.02	2.709514	0.48517	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.66460	-0.21	6.17	4.4	0.53042	.	.	.	.	.	T	0.54598	0.1868	L	0.42529	1.33	0.80722	D	1	P	0.42871	0.792	B	0.38264	0.269	T	0.49688	-0.8913	9	0.12103	T	0.63	.	13.0755	0.59085	0.1289:0.0:0.8711:0.0	.	5559	Q8WZ42-6	.	L	5559;840	ENSP00000354117:F5559L	ENSP00000304714:F840L	F	-	3	2	TTN	179318695	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.084000	0.50143	0.954000	0.37851	-0.140000	0.14226	TTC		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	174	46	174	---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207527699	207527699	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:207527699C>T	ENST00000452335.2	-	11	1677	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	521						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E521K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCCTCCAGCTCATCCTTTCTC	0.463																																						uc002vbr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1561-1563)GAG>AAG		dystrotelin							239.0	231.0	233.0					2																	207527699		1973	4153	6126	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207527699C>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1561G>A	2.37:g.207527699C>T	ENSP00000396593:p.Glu521Lys						p.E521K	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1678	-			521			Potential.			Missense_Mutation	SNP	ENST00000452335.2	37	c.1561G>A	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636204	0.47049	.	.	ENSG00000232125	ENST00000452335	T	0.18174	2.23	5.13	2.35	0.29111	.	.	.	.	.	T	0.11495	0.0280	N	0.19112	0.55	0.09310	N	1	P	0.46395	0.877	B	0.43360	0.417	T	0.18241	-1.0343	9	0.28530	T	0.3	-1.4016	7.8158	0.29258	0.0:0.7393:0.0:0.2607	.	521	A2CJ06	DYTN_HUMAN	K	521	ENSP00000396593:E521K	ENSP00000396593:E521K	E	-	1	0	DYTN	207235944	0.010000	0.17322	0.028000	0.17463	0.010000	0.07245	0.084000	0.14891	0.419000	0.25927	-0.126000	0.14955	GAG		PASS	0.463	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			74	277	74	277	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209345847	209345847	+	Missense_Mutation	SNP	G	G	T	rs151296979		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:209345847G>T	ENST00000272847.2	+	10	1247	c.1034G>T	c.(1033-1035)tGg>tTg	p.W345L	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	345					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.W345L(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ACCAAAATCTGGGAGACCAAT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17253	0.0		0.001	False		,,,				2504	0.0					uc002vdb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(1033-1035)TGG>TTG		parathyroid hormone 2 receptor precursor		G	LEU/TRP	0,4406		0,0,2203	101.0	99.0	99.0		1034	4.7	1.0	2	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PTH2R	NM_005048.2	61	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	345/551	209345847	2,13004	2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209345847G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1034G>T	2.37:g.209345847G>T	ENSP00000272847:p.Trp345Leu					PTH2R_uc010zjb.1_Missense_Mutation_p.W356L	p.W345L	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	10	1247	+			345			Cytoplasmic (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1034G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987720	0.74589	0.0	2.33E-4	ENSG00000144407	ENST00000272847	T	0.31769	1.48	5.54	4.66	0.58398	GPCR, family 2-like (1);	0.000000	0.47093	D	0.000255	T	0.43942	0.1270	L	0.45228	1.405	0.40834	D	0.983611	D;D	0.63880	0.993;0.993	D;D	0.66497	0.944;0.944	T	0.30504	-0.9976	9	.	.	.	.	12.6927	0.56985	0.081:0.0:0.919:0.0	.	234;345	B4DFN8;P49190	.;PTH2R_HUMAN	L	345	ENSP00000272847:W345L	.	W	+	2	0	PTH2R	209054092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.302000	0.96175	1.477000	0.48234	0.650000	0.86243	TGG		PASS	0.358	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		25	74	25	74	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210545476	210545476	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:210545476G>C	ENST00000360351.4	+	6	885	c.379G>C	c.(379-381)Gct>Cct	p.A127P	MAP2_ENST00000199940.6_Missense_Mutation_p.A127P|MAP2_ENST00000447185.1_Missense_Mutation_p.A127P|MAP2_ENST00000361559.4_Missense_Mutation_p.A127P|MAP2_ENST00000392194.1_Missense_Mutation_p.A127P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	127					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.A127P(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCTTTAGCAGCTGAAGAAAC	0.428																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			2	Substitution - Missense(2)		lung(2)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(379-381)GCT>CCT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						219.0	222.0	221.0					2																	210545476		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210545476G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.379G>C	2.37:g.210545476G>C	ENSP00000353508:p.Ala127Pro					MAP2_uc002vdc.1_Missense_Mutation_p.A127P|MAP2_uc002vdd.1_Missense_Mutation_p.A127P|MAP2_uc002vdf.1_Missense_Mutation_p.A127P|MAP2_uc002vdg.1_Missense_Mutation_p.A127P|MAP2_uc002vdh.1_Missense_Mutation_p.A127P|MAP2_uc002vdi.1_Missense_Mutation_p.A127P	p.A127P	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	6	627	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	127					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.379G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932598	0.92458	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.79	5.79	0.91817	.	0.116551	0.38897	N	0.001537	T	0.35711	0.0941	N	0.08118	0	0.43457	D	0.995655	D;P;P;P;D;P	0.71674	0.998;0.763;0.911;0.651;0.998;0.956	D;P;B;B;D;B	0.68943	0.961;0.529;0.42;0.328;0.914;0.361	T	0.29119	-1.0022	10	0.20519	T	0.43	-19.5683	20.0371	0.97565	0.0:0.0:1.0:0.0	.	127;127;128;127;127;127	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	P	127;127;127;127;127;127;53	ENSP00000199940:A127P;ENSP00000353508:A127P;ENSP00000355290:A127P;ENSP00000409969:A127P;ENSP00000376032:A127P;ENSP00000392164:A127P;ENSP00000388824:A53P	ENSP00000199940:A127P	A	+	1	0	MAP2	210253721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.343000	0.72986	2.734000	0.93682	0.655000	0.94253	GCT		PASS	0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		89	369	89	369	---	---	---	---
BARD1	580	broad.mit.edu	37	2	215645366	215645366	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:215645366G>T	ENST00000260947.4	-	4	1366	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	BARD1_ENST00000449967.2_Missense_Mutation_p.P267H|BARD1_ENST00000471787.1_5'Flank	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	411					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P411H(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTGCTGAGGGACTAGACAT	0.408									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(1231-1233)CCC>CAC		BRCA1 associated RING domain 1							137.0	124.0	129.0					2																	215645366		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645366G>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1232C>A	2.37:g.215645366G>T	ENSP00000260947:p.Pro411His					BARD1_uc010zjm.1_Missense_Mutation_p.P267H	p.P411H	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1367	-		Renal(323;0.0243)	411					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1232C>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591768	0.46214	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.76448	-1.02;-0.36	5.24	4.34	0.51931	.	0.336562	0.28011	N	0.016958	T	0.82254	0.4997	M	0.66939	2.045	0.41340	D	0.987292	D;D	0.76494	0.999;0.997	D;P	0.69479	0.964;0.819	T	0.78974	-0.1992	10	0.22109	T	0.4	-1.1614	6.0694	0.19881	0.1514:0.0:0.6928:0.1559	.	267;411	E7EUI3;Q99728	.;BARD1_HUMAN	H	411;267	ENSP00000260947:P411H;ENSP00000406752:P267H	ENSP00000260947:P411H	P	-	2	0	BARD1	215353611	1.000000	0.71417	0.071000	0.20095	0.597000	0.36814	3.748000	0.55142	1.156000	0.42514	0.462000	0.41574	CCC		PASS	0.408	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		4	196	4	196	---	---	---	---
AGFG1	3267	broad.mit.edu	37	2	228401617	228401617	+	Splice_Site	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:228401617C>G	ENST00000310078.8	+	10	1546	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	AGFG1_ENST00000409315.1_Splice_Site_p.A408G|AGFG1_ENST00000373671.3_Splice_Site_p.A389G|AGFG1_ENST00000409171.1_Splice_Site_p.A429G|AGFG1_ENST00000409979.2_Splice_Site_p.A453G	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	429				A -> R (in Ref. 2; CAA61667). {ECO:0000305}.	cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A429G(1)|p.A453G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTTTTTAAAGCTACGCCTTCC	0.328																																						uc002vpc.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1285-1287)GCT>GGT		HIV-1 Rev binding protein isoform 2							56.0	58.0	57.0					2																	228401617		2203	4300	6503	SO:0001630	splice_region_variant	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228401617C>G		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1286-1C>G	2.37:g.228401617C>G						AGFG1_uc002vpd.2_Missense_Mutation_p.A453G|AGFG1_uc002vpe.2_Missense_Mutation_p.A429G|AGFG1_uc002vpf.2_Missense_Mutation_p.A389G	p.A429G	NM_004504	NP_004495	P52594	AGFG1_HUMAN			10	1536	+			429	A -> R (in Ref. 2; CAA61667).				B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1286C>G	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406356	0.62288	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.34667	1.59;1.62;1.35;1.58;1.62	5.97	5.08	0.68730	.	0.055012	0.64402	N	0.000002	T	0.46405	0.1391	N	0.25647	0.755	0.51012	D	0.999906	D;D;D;D	0.76494	0.998;0.996;0.997;0.999	D;D;D;D	0.80764	0.994;0.99;0.985;0.991	T	0.37033	-0.9723	9	.	.	.	.	15.3566	0.74431	0.0:0.8612:0.1388:0.0	.	389;429;453;429	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	G	453;438;429;408;389;429	ENSP00000387282:A453G;ENSP00000312059:A429G;ENSP00000387154:A408G;ENSP00000362775:A389G;ENSP00000387218:A429G	.	A	+	2	0	AGFG1	228109861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.769000	0.55303	1.477000	0.48234	0.591000	0.81541	GCT		PASS	0.328	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	Missense_Mutation	10	91	10	91	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233671277	233671277	+	Silent	SNP	G	G	A	rs114498122	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr2:233671277G>A	ENST00000409547.1	+	17	2027	c.1716G>A	c.(1714-1716)gcG>gcA	p.A572A	GIGYF2_ENST00000452341.2_Silent_p.A403A|GIGYF2_ENST00000409480.1_Silent_p.A594A|GIGYF2_ENST00000373563.4_Silent_p.A572A|GIGYF2_ENST00000373566.3_Silent_p.A594A|GIGYF2_ENST00000409196.3_Silent_p.A566A|GIGYF2_ENST00000409451.3_Silent_p.A593A	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	572	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A593A(1)|p.A572A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAAGAGAGCGTGTGATGAAA	0.453																																						uc002vti.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(3)	7						c.(1714-1716)GCG>GCA		GRB10 interacting GYF protein 2 isoform b							194.0	188.0	190.0					2																	233671277		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233671277G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1716G>A	2.37:g.233671277G>A						GIGYF2_uc010zmj.1_Silent_p.A572A|GIGYF2_uc002vtg.2_Silent_p.A566A|GIGYF2_uc002vtj.3_Silent_p.A593A|GIGYF2_uc002vtk.3_Silent_p.A572A|GIGYF2_uc002vth.3_Silent_p.A566A|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.A403A	p.A572A	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	17	2053	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	572			GYF.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.1716G>A	CCDS33401.1																																																																																				PASS	0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		121	224	121	224	---	---	---	---
FBXW12	285231	broad.mit.edu	37	3	48416948	48416948	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:48416948T>C	ENST00000296438.5	+	5	577	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	FBXW12_ENST00000436231.1_5'UTR|FBXW12_ENST00000415155.1_Missense_Mutation_p.W131R|FBXW12_ENST00000445170.1_Missense_Mutation_p.W112R	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	131								p.W131R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTTTGTGCCTGGGATGTGCA	0.423																																						uc003csr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TGG>CGG		F-box and WD repeat domain containing 12 isoform							131.0	121.0	124.0					3																	48416948		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48416948T>C	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.391T>C	3.37:g.48416948T>C	ENSP00000296438:p.Trp131Arg					FBXW12_uc010hjv.2_Missense_Mutation_p.W112R|FBXW12_uc003css.2_Missense_Mutation_p.W131R|FBXW12_uc010hjw.2_Missense_Mutation_p.W52R	p.W131R	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	577	+			131			WD 1.		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.391T>C	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.773943	0.49786	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000445170;ENST00000415155	T;T;T	0.34275	1.37;1.37;3.44	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.069161	0.64402	D	0.000007	T	0.56396	0.1982	M	0.67700	2.07	0.30015	N	0.814841	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.982;0.982	T	0.60234	-0.7303	10	0.87932	D	0	-19.5298	11.8104	0.52179	0.0:0.0:0.0:1.0	.	52;112;131;131	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	R	52;131;112;131	ENSP00000296438:W131R;ENSP00000406139:W112R;ENSP00000414683:W131R	ENSP00000296438:W131R	W	+	1	0	FBXW12	48391952	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	1.623000	0.37008	2.114000	0.64651	0.533000	0.62120	TGG		PASS	0.423	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		34	127	34	127	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49067898	49067898	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:49067898C>G	ENST00000395443.2	-	10	2790	c.2318G>C	c.(2317-2319)aGc>aCc	p.S773T	RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000479449.1_5'Flank|IMPDH2_ENST00000326739.4_5'Flank|QRICH1_ENST00000357496.2_Missense_Mutation_p.S773T|QRICH1_ENST00000424300.1_Missense_Mutation_p.S773T	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	773						nucleus (GO:0005634)		p.S773T(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTGCATAGTGCTTGCATTGGC	0.483																																						uc010hkq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2317-2319)AGC>ACC		glutamine-rich 1							68.0	63.0	65.0					3																	49067898		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49067898C>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2318G>C	3.37:g.49067898C>G	ENSP00000378830:p.Ser773Thr					IMPDH2_uc003cvt.2_5'Flank|IMPDH2_uc010hkp.1_5'Flank|QRICH1_uc003cvu.2_Missense_Mutation_p.S773T|QRICH1_uc003cvv.2_Missense_Mutation_p.S773T	p.S773T	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	11	2614	-			773					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.2318G>C	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276052	0.40294	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.51	4.62	0.57501	.	0.099373	0.64402	N	0.000002	T	0.55862	0.1947	L	0.44542	1.39	0.42050	D	0.991117	B	0.02656	0.0	B	0.01281	0.0	T	0.52593	-0.8555	9	0.42905	T	0.14	-3.1314	15.9641	0.79952	0.0:0.8603:0.1397:0.0	.	773	Q2TAL8	QRIC1_HUMAN	T	773	.	ENSP00000350094:S773T	S	-	2	0	QRICH1	49042902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.007000	0.49536	1.298000	0.44778	0.655000	0.94253	AGC		PASS	0.483	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		5	94	5	94	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51265417	51265417	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:51265417G>T	ENST00000266037.9	+	17	1568	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	515	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K515N(1)|p.K504N(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTACAGCAAAGGACAAAGGGG	0.428																																						uc011bds.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1543-1545)AAG>AAT		dedicator of cytokinesis 3							121.0	113.0	116.0					3																	51265417		1975	4152	6127	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51265417G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1545G>T	3.37:g.51265417G>T	ENSP00000266037:p.Lys515Asn						p.K515N	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	17	1568	+			515			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1545G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847314	0.71603	.	.	ENSG00000088538	ENST00000266037	T	0.15718	2.4	6.16	1.97	0.26223	.	0.040856	0.85682	D	0.000000	T	0.35248	0.0925	M	0.78223	2.4	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.06391	-1.0829	10	0.29301	T	0.29	.	7.6465	0.28323	0.4646:0.0:0.5354:0.0	.	515	Q8IZD9	DOCK3_HUMAN	N	515	ENSP00000266037:K515N	ENSP00000266037:K515N	K	+	3	2	DOCK3	51240457	0.857000	0.29778	1.000000	0.80357	0.992000	0.81027	0.084000	0.14891	0.500000	0.27991	0.650000	0.86243	AAG		PASS	0.428	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	60	6	60	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52651314	52651314	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:52651314G>A	ENST00000296302.7	-	14	1783	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	PBRM1_ENST00000409114.3_Silent_p.F609F|PBRM1_ENST00000409057.1_Silent_p.F594F|PBRM1_ENST00000337303.4_Silent_p.F594F|PBRM1_ENST00000409767.1_Silent_p.F609F|PBRM1_ENST00000356770.4_Silent_p.F562F|PBRM1_ENST00000394830.3_Silent_p.F594F|PBRM1_ENST00000410007.1_Silent_p.F594F			Q86U86	PB1_HUMAN	polybromo 1	594	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F594F(2)|p.F562F(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGCATTCCGGAACATCAGCT	0.463			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Substitution - coding silent(3)		lung(3)	kidney(136)|breast(4)	140						c.(1780-1782)TTC>TTT		polybromo 1 isoform 4							97.0	88.0	91.0					3																	52651314		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651314G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1782C>T	3.37:g.52651314G>A						PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.F594F|PBRM1_uc003der.2_Silent_p.F562F|PBRM1_uc003det.2_Silent_p.F609F|PBRM1_uc003deu.2_Silent_p.F609F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.F594F|PBRM1_uc010hmk.1_Silent_p.F594F|PBRM1_uc003dey.2_Silent_p.F594F|PBRM1_uc003dez.1_Silent_p.F594F|PBRM1_uc003dfb.1_Silent_p.F507F|PBRM1_uc003dfc.2_5'Flank	p.F594F	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	1794	-			594			Bromo 4.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.1782C>T																																																																																					PASS	0.463	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		12	70	12	70	---	---	---	---
KLF15	28999	broad.mit.edu	37	3	126071007	126071007	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:126071007G>A	ENST00000296233.3	-	2	989	c.759C>T	c.(757-759)gtC>gtT	p.V253V	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	253					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.V253V(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CCTGGATGTTGACCAGGAGCT	0.622																																						uc011bkk.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(757-759)GTC>GTT		Kruppel-like factor 15							39.0	27.0	31.0					3																	126071007		2201	4298	6499	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071007G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.759C>T	3.37:g.126071007G>A							p.V253V	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	941	-			253						Silent	SNP	ENST00000296233.3	37	c.759C>T	CCDS3036.1																																																																																				PASS	0.622	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		3	16	3	16	---	---	---	---
H1FOO	132243	broad.mit.edu	37	3	129268069	129268069	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:129268069G>T	ENST00000324382.2	+	3	609	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	H1FOO_ENST00000503977.1_Missense_Mutation_p.G63C	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	202					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)	p.G202C(1)		endometrium(1)|lung(4)|skin(1)	6						CAAGCAAGGCGGCGCGGCCAA	0.647																																						uc003emu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(604-606)GGC>TGC		H1 histone family, member O, oocyte-specific							27.0	23.0	24.0					3																	129268069		2194	4292	6486	SO:0001583	missense	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268069G>T	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.604G>T	3.37:g.129268069G>T	ENSP00000319799:p.Gly202Cys					H1FOO_uc003emv.2_Missense_Mutation_p.G63C	p.G202C	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			3	609	+			202					Q86WT7	Missense_Mutation	SNP	ENST00000324382.2	37	c.604G>T	CCDS3064.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555730	0.27827	.	.	ENSG00000178804	ENST00000324382;ENST00000503977	T;T	0.49139	0.79;0.8	2.94	-5.89	0.02282	.	.	.	.	.	T	0.28632	0.0709	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.13407	0.009	T	0.16276	-1.0408	9	0.56958	D	0.05	.	8.0732	0.30701	0.1501:0.1059:0.6386:0.1054	.	202	Q8IZA3	H1FOO_HUMAN	C	202;63	ENSP00000319799:G202C;ENSP00000422964:G63C	ENSP00000319799:G202C	G	+	1	0	H1FOO	130750759	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.199000	0.00561	-3.018000	0.00270	-0.670000	0.03821	GGC		PASS	0.647	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		3	6	3	6	---	---	---	---
KY	339855	broad.mit.edu	37	3	134322634	134322634	+	Silent	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:134322634G>C	ENST00000423778.2	-	11	1834	c.1773C>G	c.(1771-1773)gcC>gcG	p.A591A	KY_ENST00000508956.1_Silent_p.A570A|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)	p.A591A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CATTCCGGTTGGCAGGAAGCA	0.557																																						uc010hty.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1771-1773)GCC>GCG		kyphoscoliosis peptidase							60.0	57.0	58.0					3																	134322634		1985	4169	6154	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322634G>C	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1773C>G	3.37:g.134322634G>C						KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.A570A	p.A591A	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			11	1835	-			Error:Variant_position_missing_in_Q8NBH2_after_alignment					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1773C>G	CCDS46920.1																																																																																				PASS	0.557	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		6	87	6	87	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739282	138739282	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:138739282G>A	ENST00000329447.5	-	1	486	c.222C>T	c.(220-222)gaC>gaT	p.D74D	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	74								p.D74D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCGACGTCGTCCAGGGGCA	0.697																																						uc003esy.1																			2	Substitution - coding silent(2)		lung(1)|central_nervous_system(1)	breast(1)	1						c.(220-222)GAC>GAT		proline rich 23B							24.0	22.0	23.0					3																	138739282		2202	4295	6497	SO:0001819	synonymous_variant	389151							g.chr3:138739282G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.222C>T	3.37:g.138739282G>A							p.D74D	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	487	-			74					B2RNV9	Silent	SNP	ENST00000329447.5	37	c.222C>T	CCDS33868.1																																																																																				PASS	0.697	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		11	41	11	41	---	---	---	---
TSC22D2	9819	broad.mit.edu	37	3	150128694	150128694	+	Silent	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:150128694T>A	ENST00000361875.3	+	1	2573	c.1557T>A	c.(1555-1557)ccT>ccA	p.P519P	TSC22D2_ENST00000361136.2_Silent_p.P519P	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	519					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P519P(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAGCGTGCCTAGTGTGTCTA	0.632																																						uc003exv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1555-1557)CCT>CCA		TSC22 domain family, member 2							57.0	59.0	58.0					3																	150128694		2203	4300	6503	SO:0001819	synonymous_variant	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150128694T>A	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1557T>A	3.37:g.150128694T>A						TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Silent_p.P519P	p.P519P	NM_014779	NP_055594	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	1907	+			519					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Silent	SNP	ENST00000361875.3	37	c.1557T>A	CCDS3149.1																																																																																				PASS	0.632	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		5	85	5	85	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	166960356	166960356	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:166960356T>A	ENST00000392766.2	-	20	2553	c.2213A>T	c.(2212-2214)cAg>cTg	p.Q738L	ZBBX_ENST00000392767.2_Missense_Mutation_p.Q738L|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q777L|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q709L|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q777L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	738						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q738L(1)|p.Q777L(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGGAAATCTGACTTATATT	0.368																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2212-2214)CAG>CTG		zinc finger, B-box domain containing							95.0	93.0	94.0					3																	166960356		1831	4077	5908	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:166960356T>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2213A>T	3.37:g.166960356T>A	ENSP00000376519:p.Gln738Leu					ZBBX_uc011bpc.1_Missense_Mutation_p.Q777L|ZBBX_uc003feq.2_Missense_Mutation_p.Q709L	p.Q738L	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			20	2536	-			738					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2213A>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	4.985	0.182933	0.09495	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.48	3.01	0.34805	.	0.960097	0.08581	N	0.924600	T	0.34919	0.0914	N	0.16478	0.41	0.26062	N	0.981333	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.002	T	0.27365	-1.0076	10	0.41790	T	0.15	-0.4472	5.1854	0.15182	0.1569:0.086:0.0:0.7571	.	777;738	A8MT70-2;A8MT70	.;ZBBX_HUMAN	L	738;738;777;777;709	ENSP00000376519:Q738L;ENSP00000376520:Q738L;ENSP00000390232:Q777L;ENSP00000305065:Q777L;ENSP00000376517:Q709L	ENSP00000305065:Q777L	Q	-	2	0	ZBBX	168443050	0.035000	0.19736	0.272000	0.24630	0.009000	0.06853	0.526000	0.22971	0.337000	0.23665	-0.723000	0.03601	CAG		PASS	0.368	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		32	76	32	76	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179096197	179096197	+	Silent	SNP	C	C	T	rs369815541		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:179096197C>T	ENST00000471841.1	+	13	1524	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	MFN1_ENST00000263969.5_Silent_p.N466N|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	466					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N466N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGAAGTAAACGCCTTAGTGC	0.353																																						uc003fjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1396-1398)AAC>AAT		mitofusin 1		C		1,4405	2.1+/-5.4	0,1,2202	115.0	124.0	121.0		1398	-3.0	1.0	3		121	0,8600		0,0,4300	no	coding-synonymous	MFN1	NM_033540.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		466/742	179096197	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179096197C>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1398C>T	3.37:g.179096197C>T						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.N494N|MFN1_uc010hxc.2_Intron	p.N466N	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		13	1524	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		466			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.1398C>T	CCDS3228.1																																																																																				PASS	0.353	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		8	96	8	96	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183907499	183907499	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:183907499A>G	ENST00000429586.2	+	13	1453	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.Q417R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	423	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q423R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCTCAACCAGCAGCGTGAA	0.607																																						uc003fmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1267-1269)CAG>CGG		ATP-binding cassette, sub-family F (GCN20),							36.0	33.0	34.0					3																	183907499		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183907499A>G	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1268A>G	3.37:g.183907499A>G	ENSP00000411471:p.Gln423Arg					ABCF3_uc003fna.2_Missense_Mutation_p.Q417R|ABCF3_uc003fnb.2_Missense_Mutation_p.Q104R	p.Q423R	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1401	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		423			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1268A>G	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512242	0.64522	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92397	-3.03;-3.03	4.2	4.2	0.49525	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.91459	3.21	0.80722	D	1	D;P	0.67145	0.996;0.939	D;P	0.68039	0.955;0.864	D	0.96827	0.9608	10	0.72032	D	0.01	-18.8905	12.6127	0.56560	1.0:0.0:0.0:0.0	.	417;423	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	R	423;417	ENSP00000411471:Q423R;ENSP00000292808:Q417R	ENSP00000292808:Q417R	Q	+	2	0	ABCF3	185390193	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.477000	0.90424	1.775000	0.52247	0.460000	0.39030	CAG		PASS	0.607	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		12	29	12	29	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184294844	184294844	+	Silent	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:184294844G>T	ENST00000330394.2	+	5	1679	c.1227G>T	c.(1225-1227)cgG>cgT	p.R409R	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	409	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.R409R(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CGGAGCGCCGGGTCCACATCA	0.647																																						uc003foz.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1225-1227)CGG>CGT		ephrin receptor EphB3 precursor							65.0	67.0	66.0					3																	184294844		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294844G>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1227G>T	3.37:g.184294844G>T							p.R409R	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1664	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		409			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1227G>T	CCDS3268.1																																																																																				PASS	0.647	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		45	116	45	116	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080070	194080070	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr3:194080070C>A	ENST00000347624.3	-	2	1788	c.1703G>T	c.(1702-1704)aGc>aTc	p.S568I	LRRC15_ENST00000439944.2_Missense_Mutation_p.S574I|LRRC15_ENST00000428839.1_Missense_Mutation_p.S574I	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	568					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.S568I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GACAGCTTGGCTCCTCTTCTT	0.597																																						uc003ftu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1702-1704)AGC>ATC		leucine rich repeat containing 15 isoform b							72.0	68.0	70.0					3																	194080070		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080070C>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1703G>T	3.37:g.194080070C>A	ENSP00000306276:p.Ser568Ile					LRRC15_uc003ftt.2_Missense_Mutation_p.S574I	p.S568I	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1789	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		568			Cytoplasmic (Potential).		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1703G>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	8.441	0.850818	0.17034	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.57907	0.37;0.4;0.4	5.48	0.703	0.18116	.	0.339297	0.31438	N	0.007646	T	0.44030	0.1274	N	0.24115	0.695	0.40935	D	0.984429	P;P	0.40875	0.612;0.731	B;P	0.47528	0.347;0.549	T	0.36480	-0.9746	10	0.52906	T	0.07	.	10.7694	0.46314	0.0:0.644:0.0:0.356	.	568;574	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	I	568;574;574	ENSP00000306276:S568I;ENSP00000389128:S574I;ENSP00000413707:S574I	ENSP00000306276:S568I	S	-	2	0	LRRC15	195561365	0.982000	0.34865	0.987000	0.45799	0.311000	0.27955	0.565000	0.23578	-0.073000	0.12842	-0.251000	0.11542	AGC		PASS	0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			13	161	13	161	---	---	---	---
NELFA	7469	broad.mit.edu	37	4	1985126	1985126	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:1985126C>T	ENST00000411638.2	-	11	1522	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.D368N|NELFA_ENST00000382882.3_Missense_Mutation_p.D514N	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	503					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D503N(1)									AACACTGTGTCCACCAGCATG	0.597																																						uc003gem.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1540-1542)GAC>AAC		Wolf-Hirschhorn syndrome candidate 2 protein							223.0	192.0	202.0					4																	1985126		2203	4300	6503	SO:0001583	missense	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985126C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1507G>A	4.37:g.1985126C>T	ENSP00000399165:p.Asp503Asn					WHSC2_uc003gek.2_Missense_Mutation_p.D240N|WHSC2_uc003gel.2_Missense_Mutation_p.D428N|WHSC2_uc003gen.2_Missense_Mutation_p.D368N	p.D514N	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		11	1780	-			503					A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1540G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.581657	0.96565	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.76206	-0.3044	10	0.72032	D	0.01	-40.5541	18.8462	0.92208	0.0:1.0:0.0:0.0	.	503	Q9H3P2	NELFA_HUMAN	N	514;507;368;503	ENSP00000372335:D514N;ENSP00000387647:D507N;ENSP00000445757:D368N;ENSP00000399165:D503N	ENSP00000372335:D514N	D	-	1	0	WHSC2	1954924	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.720000	0.84759	2.466000	0.83321	0.462000	0.41574	GAC		PASS	0.597	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		45	202	45	202	---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6925734	6925734	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:6925734C>A	ENST00000409757.4	+	2	742	c.618C>A	c.(616-618)agC>agA	p.S206R	TBC1D14_ENST00000448507.1_Missense_Mutation_p.S206R	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	206					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.S206R(1)|p.S191R(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCACCTTGAGCTCTATCAAGG	0.488																																						uc011bwg.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(616-618)AGC>AGA		TBC1 domain family, member 14 isoform a							59.0	49.0	52.0					4																	6925734		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925734C>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.618C>A	4.37:g.6925734C>A	ENSP00000386921:p.Ser206Arg					TBC1D14_uc003gjs.3_Missense_Mutation_p.S206R	p.S206R	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			2	697	+			206					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.618C>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411597	0.11812	.	.	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.07021	3.23;3.23	4.3	2.59	0.31030	.	0.267744	0.37261	N	0.002162	T	0.07683	0.0193	L	0.51422	1.61	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.23868	-1.0176	9	.	.	.	-7.1467	7.4324	0.27134	0.0:0.6993:0.0:0.3007	.	206	Q9P2M4	TBC14_HUMAN	R	206	ENSP00000404041:S206R;ENSP00000386921:S206R	.	S	+	3	2	TBC1D14	6976635	0.992000	0.36948	0.990000	0.47175	0.020000	0.10135	0.181000	0.16880	0.483000	0.27608	-0.218000	0.12543	AGC		PASS	0.488	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		10	61	10	61	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10445664	10445664	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:10445664C>A	ENST00000326756.3	-	3	2727	c.2289G>T	c.(2287-2289)aaG>aaT	p.K763N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	763					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K763N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAACATGAGCCTTCCTGGCCA	0.453																																						uc003gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2287-2289)AAG>AAT		zinc finger protein 518B							95.0	96.0	96.0					4																	10445664		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445664C>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2289G>T	4.37:g.10445664C>A	ENSP00000317614:p.Lys763Asn						p.K763N	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	2776	-			763					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2289G>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193331	0.22037	.	.	ENSG00000178163	ENST00000326756	T	0.01705	4.68	6.02	4.24	0.50183	.	0.303860	0.27768	N	0.017926	T	0.01320	0.0043	L	0.33485	1.01	0.19575	N	0.999966	P	0.37441	0.595	B	0.31016	0.123	T	0.49390	-0.8945	10	0.17832	T	0.49	-15.901	5.3928	0.16253	0.1525:0.6392:0.1314:0.0769	.	763	Q9C0D4	Z518B_HUMAN	N	763	ENSP00000317614:K763N	ENSP00000317614:K763N	K	-	3	2	ZNF518B	10054762	0.042000	0.20092	0.931000	0.37212	0.553000	0.35397	0.191000	0.17076	1.555000	0.49500	0.655000	0.94253	AAG		PASS	0.453	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		54	107	54	107	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	16010597	16010597	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:16010597T>C	ENST00000510224.1	-	12	1524	c.1276A>G	c.(1276-1278)Aca>Gca	p.T426A	PROM1_ENST00000543373.1_Missense_Mutation_p.T417A|PROM1_ENST00000447510.2_Missense_Mutation_p.T426A|PROM1_ENST00000505450.1_Missense_Mutation_p.T417A|PROM1_ENST00000540805.1_Missense_Mutation_p.T426A|PROM1_ENST00000539194.1_Missense_Mutation_p.T426A|RNU6-350P_ENST00000515949.1_RNA|PROM1_ENST00000508167.1_Missense_Mutation_p.T417A			O43490	PROM1_HUMAN	prominin 1	426					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.T425A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCTTCCAATGTAGGTAAATTT	0.378																																						uc003goo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						c.(1276-1278)ACA>GCA		prominin 1 isoform 1							80.0	77.0	78.0					4																	16010597		1877	4117	5994	SO:0001583	missense	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16010597T>C	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1276A>G	4.37:g.16010597T>C	ENSP00000426809:p.Thr426Ala					PROM1_uc003gor.2_Missense_Mutation_p.T426A|PROM1_uc003gos.2_Missense_Mutation_p.T417A|PROM1_uc003got.2_Missense_Mutation_p.T426A|PROM1_uc003gou.2_Missense_Mutation_p.T417A|PROM1_uc003gop.2_Missense_Mutation_p.T417A|PROM1_uc003goq.3_Missense_Mutation_p.T417A|PROM1_uc010iec.1_Missense_Mutation_p.T304A	p.T426A	NM_006017	NP_006008	O43490	PROM1_HUMAN			11	1488	-			426			Extracellular (Potential).		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.1276A>G	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	T	5.581	0.292052	0.10567	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.52	-2.12	0.07165	.	1.047260	0.07400	N	0.890711	T	0.21509	0.0518	L	0.41236	1.265	0.09310	N	1	B;B;B;B;P;B	0.42871	0.021;0.021;0.021;0.021;0.792;0.06	B;B;B;B;B;B	0.37601	0.021;0.021;0.021;0.021;0.254;0.036	T	0.17077	-1.0381	10	0.06236	T	0.91	-3.6533	0.3976	0.00421	0.3717:0.1761:0.1325:0.3197	.	417;426;417;426;417;426	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	A	426;426;426;417;417;426;417	ENSP00000415481:T426A;ENSP00000438045:T426A;ENSP00000443620:T426A;ENSP00000426090:T417A;ENSP00000427346:T417A;ENSP00000426809:T426A;ENSP00000445526:T417A	ENSP00000415481:T426A	T	-	1	0	PROM1	15619695	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	0.085000	0.14912	0.034000	0.15491	0.533000	0.62120	ACA		PASS	0.378	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		8	30	8	30	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46043016	46043016	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:46043016G>T	ENST00000295452.4	-	9	1554	c.1387C>A	c.(1387-1389)Ctt>Att	p.L463I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	463					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L463I(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TATAAGTAAAGATAGCCAACC	0.318																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1387-1389)CTT>ATT		gamma-aminobutyric acid A receptor, gamma 1							63.0	69.0	67.0					4																	46043016		2203	4299	6502	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043016G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1387C>A	4.37:g.46043016G>T	ENSP00000295452:p.Leu463Ile						p.L463I	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1539	-			463			Helical; (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1387C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505631	0.85282	.	.	ENSG00000163285	ENST00000295452	D	0.85171	-1.95	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90553	0.4510	10	0.54805	T	0.06	.	18.342	0.90308	0.0:0.0:1.0:0.0	.	463	Q8N1C3	GBRG1_HUMAN	I	463	ENSP00000295452:L463I	ENSP00000295452:L463I	L	-	1	0	GABRG1	45737773	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	6.699000	0.74613	2.580000	0.87095	0.467000	0.42956	CTT		PASS	0.318	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		9	81	9	81	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56878146	56878146	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:56878146C>G	ENST00000257287.4	+	21	2921	c.2797C>G	c.(2797-2799)Caa>Gaa	p.Q933E		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	933					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.Q933E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAAAGAAATTCAAGAGGTAAT	0.299																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2797-2799)CAA>GAA		centrosome protein 4							33.0	35.0	35.0					4																	56878146		2202	4299	6501	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56878146C>G	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2797C>G	4.37:g.56878146C>G	ENSP00000257287:p.Gln933Glu					CEP135_uc003hbj.2_Missense_Mutation_p.Q639E	p.Q933E	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			21	3031	+	Glioma(25;0.08)|all_neural(26;0.101)		933			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.2797C>G	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752359	0.49362	.	.	ENSG00000174799	ENST00000257287	T	0.13196	2.61	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	L	0.46157	1.445	0.80722	D	1	P	0.47350	0.894	B	0.43990	0.438	T	0.02705	-1.1121	10	0.02654	T	1	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	933	Q66GS9	CP135_HUMAN	E	933	ENSP00000257287:Q933E	ENSP00000257287:Q933E	Q	+	1	0	CEP135	56572903	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.979000	0.76154	2.840000	0.97914	0.655000	0.94253	CAA		PASS	0.299	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		7	53	7	53	---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78650191	78650191	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:78650191C>T	ENST00000504123.1	-	10	1199	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A357T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	357	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.A357T(1)|p.A386T(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGGGCATTTGCCACTATAAGC	0.388																																						uc011ccd.1																			2	Substitution - Missense(2)	p.V357I(1)	lung(2)	large_intestine(1)	1						c.(1069-1071)GCA>ACA		CCR4-NOT transcription complex, subunit 6-like							101.0	96.0	97.0					4																	78650191		1847	4092	5939	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650191C>T	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1069G>A	4.37:g.78650191C>T	ENSP00000424896:p.Ala357Thr					CNOT6L_uc003hks.2_Missense_Mutation_p.A357T|CNOT6L_uc003hkt.1_Missense_Mutation_p.A200T	p.A357T	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			10	1200	-			357					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1069G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.643454|4.643454	0.87859|0.87859	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983|ENST00000515506	D;D;D;D|.	0.95482|.	-3.72;-3.72;-3.72;-3.72|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Endonuclease/exonuclease/phosphatase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71178|0.71178	0.3309|0.3309	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;P|.	0.38250|.	0.365;0.624|.	B;B|.	0.42692|.	0.09;0.395|.	T|T	0.66244|0.66244	-0.5972|-0.5972	10|5	0.48119|.	T|.	0.1|.	-3.5365|-3.5365	19.8926|19.8926	0.96935|0.96935	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	330;357|.	Q96LI5-2;Q96LI5|.	.;CNO6L_HUMAN|.	T|D	357;357;364;132|385	ENSP00000424896:A357T;ENSP00000264903:A357T;ENSP00000425571:A364T;ENSP00000426320:A132T|.	ENSP00000264903:A357T|.	A|G	-|-	1|2	0|0	CNOT6L|CNOT6L	78869215|78869215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.709000|2.709000	0.92574|0.92574	0.563000|0.563000	0.77884|0.77884	GCA|GGC		PASS	0.388	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			4	230	4	230	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89361102	89361102	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:89361102G>C	ENST00000264346.7	+	21	2691	c.2632G>C	c.(2632-2634)Gga>Cga	p.G878R	HERC6_ENST00000380265.5_Missense_Mutation_p.G842R	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	878	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G878R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ATTTCAGAGAGGATTTTATAG	0.333																																						uc011cdi.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|kidney(1)	5						c.(2632-2634)GGA>CGA		hect domain and RLD 6 isoform 1							48.0	45.0	46.0					4																	89361102		1843	4112	5955	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89361102G>C	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2632G>C	4.37:g.89361102G>C	ENSP00000264346:p.Gly878Arg					HERC6_uc011cdj.1_Missense_Mutation_p.G842R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.G878R	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	21	2815	+		Hepatocellular(203;0.114)	878			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.2632G>C	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490783	0.84962	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	D;D	0.88277	-2.36;-2.36	4.76	4.76	0.60689	HECT (4);	0.000000	0.64402	D	0.000012	D	0.96479	0.8851	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97688	1.0177	10	0.87932	D	0	.	17.0502	0.86516	0.0:0.0:1.0:0.0	.	842;878	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	R	842;878	ENSP00000369617:G842R;ENSP00000264346:G878R	ENSP00000264346:G878R	G	+	1	0	HERC6	89580125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.954000	0.76001	2.638000	0.89438	0.585000	0.79938	GGA		PASS	0.333	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			20	29	20	29	---	---	---	---
SLC9B1	150159	broad.mit.edu	37	4	103822366	103822366	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:103822366G>T	ENST00000296422.7	-	12	1597	c.1456C>A	c.(1456-1458)Cta>Ata	p.L486I	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	486					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.L486I(1)									CCCATAAGTAGAGCTCCATTT	0.413																																						uc003hww.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1456-1458)CTA>ATA		Na+/H+ exchanger domain containing 1 isoform 1							94.0	93.0	94.0					4																	103822366		1589	3219	4808	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822366G>T	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1456C>A	4.37:g.103822366G>T	ENSP00000296422:p.Leu486Ile					NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.L259I	p.L486I	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	12	1578	-		Hepatocellular(203;0.217)	486			Helical; (Potential).		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.1456C>A	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567322	0.28003	.	.	ENSG00000164037	ENST00000296422	T	0.16324	2.35	3.91	2.14	0.27477	.	0.094233	0.44285	D	0.000474	T	0.19406	0.0466	.	.	.	0.30725	N	0.74779	P	0.46064	0.872	P	0.51777	0.679	T	0.08166	-1.0735	9	0.20519	T	0.43	-20.0239	8.0105	0.30351	0.0936:0.1619:0.7445:0.0	.	486	Q4ZJI4	SL9B1_HUMAN	I	486	ENSP00000296422:L486I	ENSP00000296422:L486I	L	-	1	2	SLC9B1	104041815	1.000000	0.71417	0.285000	0.24819	0.826000	0.46750	2.399000	0.44495	0.406000	0.25560	0.484000	0.47621	CTA		PASS	0.413	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		17	522	17	522	---	---	---	---
GAR1	54433	broad.mit.edu	37	4	110745172	110745172	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:110745172G>T	ENST00000226796.6	+	6	887	c.623G>T	c.(622-624)aGa>aTa	p.R208I	GAR1_ENST00000394631.3_Missense_Mutation_p.R208I	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	208	RGG-box 2.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)	p.R208I(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AGAGGAGGAAGAGGTGGTGGT	0.318																																						uc003hzt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)AGA>ATA		nucleolar protein family A, member 1							123.0	144.0	137.0					4																	110745172		2203	4300	6503	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110745172G>T	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.623G>T	4.37:g.110745172G>T	ENSP00000226796:p.Arg208Ile					GAR1_uc003hzu.2_Missense_Mutation_p.R208I|GAR1_uc010imi.2_Missense_Mutation_p.R190I	p.R208I	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN			6	930	+			208			RGG-box 2.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.623G>T	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663546	0.67700	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	T;T	0.28454	1.61;1.61	5.73	5.73	0.89815	.	0.048931	0.85682	D	0.000000	T	0.40909	0.1136	N	0.14661	0.345	0.58432	D	0.999999	D;D	0.64830	0.994;0.99	D;D	0.71870	0.975;0.944	T	0.43065	-0.9414	10	0.66056	D	0.02	.	18.6688	0.91502	0.0:0.0:1.0:0.0	.	190;208	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	I	208	ENSP00000378127:R208I;ENSP00000226796:R208I	ENSP00000226796:R208I	R	+	2	0	GAR1	110964621	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.742000	0.68646	2.715000	0.92844	0.591000	0.81541	AGA		PASS	0.318	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			75	120	75	120	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153244194	153244194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:153244194C>A	ENST00000281708.4	-	12	3192	c.1963G>T	c.(1963-1965)Gaa>Taa	p.E655*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.E537*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.E575*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.E655*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.E655*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.E479*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	655					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.E655*(2)|p.E575*(1)|p.E416*(1)|p.?(1)|p.E537*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CGAATAAATTCACCCGTTTTC	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Nonsense(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1963-1965)GAA>TAA		F-box and WD repeat domain containing 7 isoform							163.0	160.0	161.0					4																	153244194		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244194C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1963G>T	4.37:g.153244194C>A	ENSP00000281708:p.Glu655*					FBXW7_uc011cii.1_Nonsense_Mutation_p.E655*|FBXW7_uc003imt.2_Nonsense_Mutation_p.E655*|FBXW7_uc011cih.1_Nonsense_Mutation_p.E479*|FBXW7_uc003imq.2_Nonsense_Mutation_p.E575*|FBXW7_uc003imr.2_Nonsense_Mutation_p.E537*	p.E655*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2112	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	655			WD 7.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1963G>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042816	0.93685	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	5.67	0.87782	.	0.138078	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.8902	19.7667	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	655;537;575;479	.	ENSP00000263981:E575X	E	-	1	0	FBXW7	153463644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.762000	0.85270	2.681000	0.91329	0.655000	0.94253	GAA		PASS	0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			86	152	86	152	---	---	---	---
TRIM60	166655	broad.mit.edu	37	4	165961611	165961611	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:165961611C>T	ENST00000512596.1	+	3	603	c.387C>T	c.(385-387)taC>taT	p.Y129Y	TRIM60_ENST00000341062.5_Silent_p.Y129Y|TRIM60_ENST00000508504.1_Silent_p.Y129Y	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	129						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y129Y(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGAAGCACTACATTTGCCCTA	0.388																																						uc003iqy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(385-387)TAC>TAT		ring finger protein 129							74.0	74.0	74.0					4																	165961611		2203	4300	6503	SO:0001819	synonymous_variant	166655					intracellular	zinc ion binding	g.chr4:165961611C>T	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.387C>T	4.37:g.165961611C>T						TRIM60_uc010iqx.1_Silent_p.Y129Y	p.Y129Y	NM_152620	NP_689833	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	557	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	129			B box-type.		Q8NA35	Silent	SNP	ENST00000512596.1	37	c.387C>T	CCDS3808.1																																																																																				PASS	0.388	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		4	107	4	107	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170628195	170628195	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:170628195G>T	ENST00000513761.1	+	11	2486	c.1927G>T	c.(1927-1929)Gat>Tat	p.D643Y	CLCN3_ENST00000360642.3_Missense_Mutation_p.D616Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.D643Y|CLCN3_ENST00000504131.2_Missense_Mutation_p.D626Y	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	643					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.D643Y(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CCCTTTCTTGGATGCAAAAGA	0.468																																						uc003isi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1927-1929)GAT>TAT		chloride channel 3 isoform b							166.0	148.0	154.0					4																	170628195		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628195G>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1927G>T	4.37:g.170628195G>T	ENSP00000424603:p.Asp643Tyr					CLCN3_uc003ish.2_Missense_Mutation_p.D643Y|CLCN3_uc011cjz.1_Missense_Mutation_p.D626Y|CLCN3_uc011cka.1_Missense_Mutation_p.D616Y|CLCN3_uc003isj.1_Missense_Mutation_p.D616Y	p.D643Y	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	11	2436	+		Prostate(90;0.00601)|Renal(120;0.0183)	643			Cytoplasmic (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1927G>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787124	0.90367	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.48	5.48	0.80851	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.63880	0.988;0.993;0.993;0.993;0.993	P;D;D;D;D	0.65987	0.873;0.928;0.928;0.928;0.94	D	0.98018	1.0369	10	0.87932	D	0	-11.3554	19.3596	0.94431	0.0:0.0:1.0:0.0	.	616;626;616;643;643	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	Y	643;643;616;626;616	ENSP00000424603:D643Y;ENSP00000261514:D643Y;ENSP00000353857:D616Y;ENSP00000424540:D626Y;ENSP00000425323:D616Y	ENSP00000261514:D643Y	D	+	1	0	CLCN3	170864770	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.734000	0.98822	2.568000	0.86640	0.655000	0.94253	GAT		PASS	0.468	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			19	143	19	143	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541367	187541367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr4:187541367C>A	ENST00000441802.2	-	10	6582	c.6373G>T	c.(6373-6375)Gaa>Taa	p.E2125*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2125	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2128*(1)|p.E2125*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAAAGTGTTCATGATGTTCC	0.423										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6373-6375)GAA>TAA		FAT tumor suppressor 1 precursor							118.0	111.0	113.0					4																	187541367		1904	4133	6037	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541367C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6373G>T	4.37:g.187541367C>A	ENSP00000406229:p.Glu2125*	HNSCC(5;0.00058)					p.E2125*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6561	-			2125			Extracellular (Potential).|Cadherin 19.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.6373G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	46	12.835403	0.99700	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.1	5.1	0.69264	.	0.207319	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	14.3342	0.66578	0.0:0.8519:0.1481:0.0	.	.	.	.	X	2125;2127	.	ENSP00000260147:E2127X	E	-	1	0	FAT1	187778361	1.000000	0.71417	0.988000	0.46212	0.536000	0.34869	5.848000	0.69458	2.653000	0.90120	0.563000	0.77884	GAA		PASS	0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		87	171	87	171	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1213604	1213604	+	Silent	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:1213604C>G	ENST00000304460.10	+	5	746	c.690C>G	c.(688-690)ccC>ccG	p.P230P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	230					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.P230P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCACGCTGCCCTATGTCGTCC	0.662																																						uc003jbw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(688-690)CCC>CCG		solute carrier family 6, member 19							140.0	89.0	106.0					5																	1213604		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1213604C>G	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.690C>G	5.37:g.1213604C>G							p.P230P	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	746	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		230			Helical; Name=5; (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.690C>G	CCDS34130.1																																																																																				PASS	0.662	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		8	109	8	109	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6743891	6743891	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:6743891G>A	ENST00000230859.6	+	6	562	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	375					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.E145K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGACCTGAATGAAGTTTTTAC	0.348																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GAA>AAA		DNA polymerase sigma							146.0	151.0	150.0					5																	6743891		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6743891G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.433G>A	5.37:g.6743891G>A	ENSP00000230859:p.Glu145Lys					PAPD7_uc011cmn.1_Missense_Mutation_p.E136K|PAPD7_uc010itl.1_5'Flank	p.E145K	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			6	562	+			145					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.433G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586077	0.96578	.	.	ENSG00000112941	ENST00000230859	T	0.56611	0.45	4.97	4.97	0.65823	.	0.052865	0.85682	D	0.000000	T	0.73916	0.3648	M	0.90252	3.1	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.55615	0.78;0.78	T	0.79992	-0.1569	10	0.54805	T	0.06	.	18.6326	0.91366	0.0:0.0:1.0:0.0	.	145;145	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	K	145	ENSP00000230859:E145K	ENSP00000230859:E145K	E	+	1	0	PAPD7	6796891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.170000	0.94795	2.461000	0.83175	0.655000	0.94253	GAA		PASS	0.348	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		24	397	24	397	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694657	16694658	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:16694657_16694658CG>AA	ENST00000513610.1	-	27	4076_4077	c.3622_3623CG>TT	c.(3622-3624)CGc>TTc	p.R1208F	MYO10_ENST00000505695.1_Missense_Mutation_p.R547F|MYO10_ENST00000515803.1_Missense_Mutation_p.R547F|MYO10_ENST00000427430.2_Missense_Mutation_p.R565F|MYO10_ENST00000274203.9_Missense_Mutation_p.R565F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1208					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.R1208L(2)|p.R1208C(1)|p.R1208F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGCTTGGAGCGGAACCACAAG	0.569																																						uc003jft.3																			4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)	3						c.(3622-3624)CGC>CTC|c.(3622-3624)CGC>TGC		myosin X																																				SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694657C>A|g.chr5:16694658G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3622_3623delinsAA	5.37:g.16694657_16694658delinsAA	ENSP00000421280:p.Arg1208Phe					MYO10_uc011cnc.1_Missense_Mutation_p.R87L|MYO10_uc011cnd.1_Missense_Mutation_p.R565L|MYO10_uc011cne.1_Missense_Mutation_p.R565L|MYO10_uc010itx.2_Missense_Mutation_p.R831L|MYO10_uc011cnc.1_Missense_Mutation_p.R87C|MYO10_uc011cnd.1_Missense_Mutation_p.R565C|MYO10_uc011cne.1_Missense_Mutation_p.R565C|MYO10_uc010itx.2_Missense_Mutation_p.R831C	p.R1208L|p.R1208C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			27	4091|4090	-			1208					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3623G>T|c.3622C>T	CCDS54834.1																																																																																				PASS	0.569	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		187	149|150	187	149	---	---	---	---
BASP1	10409	broad.mit.edu	37	5	17275787	17275787	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:17275787C>T	ENST00000322611.3	+	2	722	c.462C>T	c.(460-462)ccC>ccT	p.P154P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	154					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P154P(1)		endometrium(1)|lung(8)	9						CTGAGGCGCCCGCAGCTCCTG	0.706																																						uc003jfx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)CCC>CCT		brain abundant, membrane attached signal protein							4.0	6.0	5.0					5																	17275787		2016	4040	6056	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275787C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.462C>T	5.37:g.17275787C>T							p.P154P	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	641	+			154					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.462C>T	CCDS3888.1																																																																																				PASS	0.706	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			9	11	9	11	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24593368	24593369	+	Splice_Site	DNP	CC	CC	AA			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:24593368_24593369CC>AA	ENST00000264463.4	-	2	738_739	c.231_232GG>TT	c.(229-234)aaGGta>aaTTta	p.77_78KV>NL	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.K77N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CACAAGCTTACCTTGCCTACGT	0.322										HNSCC(23;0.051)																												uc003jgr.1																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(6)|pancreas(4)|breast(2)	12						c.e2+1|c.(229-231)AAG>AAT		cadherin 10, type 2 preproprotein																																				SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593368C>A|g.chr5:24593369C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.231_232delinsAA	5.37:g.24593368_24593369delinsAA		HNSCC(23;0.051)				CDH10_uc011cnu.1_Splice_Site|CDH10_uc011cnu.1_RNA	p.K77_splice|p.K77N	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	563	-			|77			|Cadherin 1.|Extracellular (Potential).		Q9ULB3	Splice_Site|Missense_Mutation	SNP	ENST00000264463.4	37	c.231_splice|c.231G>T	CCDS3892.1																																																																																				PASS	0.322	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Missense_Mutation	151|153	136|137	151	136	---	---	---	---
C5orf22	55322	broad.mit.edu	37	5	31534400	31534400	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:31534400G>T	ENST00000325366.9	+	2	230	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	C5orf22_ENST00000355907.3_5'UTR|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_5'Flank|DROSHA_ENST00000511367.2_5'Flank	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	35								p.A35S(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TATATACCGGGCCATAGGCTC	0.423																																						uc003jhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(103-105)GCC>TCC		hypothetical protein LOC55322							168.0	151.0	157.0					5																	31534400		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31534400G>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.103G>T	5.37:g.31534400G>T	ENSP00000326879:p.Ala35Ser					RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	p.A35S	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			2	230	+			35					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.103G>T	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861209	0.91433	.	.	ENSG00000082213	ENST00000325366;ENST00000507818	T;T	0.49720	0.77;0.77	5.41	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.67953	2.075	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.65957	-0.6042	10	0.49607	T	0.09	-12.9779	16.2139	0.82191	0.0:0.1326:0.8674:0.0	.	35	Q49AR2	CE022_HUMAN	S	35	ENSP00000326879:A35S;ENSP00000430860:A35S	ENSP00000326879:A35S	A	+	1	0	C5orf22	31570157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.054000	0.76649	2.524000	0.85096	0.655000	0.94253	GCC		PASS	0.423	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		20	285	20	285	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33527346	33527346	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:33527346G>T	ENST00000504830.1	-	24	5067	c.4732C>A	c.(4732-4734)Cac>Aac	p.H1578N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H1493N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1578				H -> R (in Ref. 4; AAI31734). {ECO:0000305}.	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.H1578N(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						CTTTGGGTGTGTGTGATGTGT	0.532										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.(4732-4734)CAC>AAC		ADAM metallopeptidase with thrombospondin type 1							279.0	250.0	260.0					5																	33527346		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527346G>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.4732C>A	5.37:g.33527346G>T	ENSP00000422554:p.His1578Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1493N	p.H1578N	NM_030955	NP_112217	P58397	ATS12_HUMAN			24	4895	-			1578	H -> R (in Ref. 4; AAI31734).				A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4732C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	1.126	-0.653956	0.03480	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58060	0.36;0.37	5.69	4.82	0.62117	.	1.117940	0.06694	N	0.770155	T	0.47248	0.1435	L	0.41236	1.265	0.26209	N	0.979321	B;B	0.26195	0.144;0.089	B;B	0.24848	0.056;0.015	T	0.37430	-0.9706	10	0.35671	T	0.21	.	10.6573	0.45682	0.0878:0.0:0.9122:0.0	.	1493;1578	P58397-3;P58397	.;ATS12_HUMAN	N	1578;1493	ENSP00000422554:H1578N;ENSP00000344847:H1493N	ENSP00000344847:H1493N	H	-	1	0	ADAMTS12	33563103	0.196000	0.23350	0.002000	0.10522	0.095000	0.18619	3.465000	0.53064	1.417000	0.47077	-0.140000	0.14226	CAC		PASS	0.532	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		56	537	56	537	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43644885	43644885	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:43644885G>C	ENST00000264663.5	+	9	1492	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	NNT_ENST00000344920.4_Missense_Mutation_p.R424T|NNT_ENST00000512996.2_Missense_Mutation_p.R293T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	424					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.R424T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CATGTCATTAGAGGAACTGTA	0.333																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1270-1272)AGA>ACA		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						81.0	82.0	82.0					5																	43644885		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43644885G>C	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1271G>C	5.37:g.43644885G>C	ENSP00000264663:p.Arg424Thr					NNT_uc003jof.2_Missense_Mutation_p.R424T	p.R424T	NM_012343	NP_036475	Q13423	NNTM_HUMAN			9	1526	+	Lung NSC(6;2.58e-06)		424			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1271G>C	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291813	0.80914	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.96459	-4.02;-4.02;-3.96	5.79	5.79	0.91817	.	0.039925	0.85682	D	0.000000	D	0.98229	0.9414	M	0.88310	2.945	0.54753	D	0.999984	D	0.67145	0.996	P	0.60012	0.867	D	0.98745	1.0718	10	0.87932	D	0	-18.5642	20.0176	0.97485	0.0:0.0:1.0:0.0	.	424	Q13423	NNTM_HUMAN	T	424;424;293	ENSP00000264663:R424T;ENSP00000343873:R424T;ENSP00000426343:R293T	ENSP00000264663:R424T	R	+	2	0	NNT	43680642	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	9.399000	0.97285	2.735000	0.93741	0.655000	0.94253	AGA		PASS	0.333	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		127	99	127	99	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140739886	140739886	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:140739886C>T	ENST00000522605.1	+	1	184	c.184C>T	c.(184-186)Cca>Tca	p.P62S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	62	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.P62S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGACTTGCCAGCCCGGAA	0.537																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CCA>TCA		protocadherin gamma subfamily B, 2 isoform 1							55.0	59.0	58.0					5																	140739886		1844	4082	5926	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140739886C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.184C>T	5.37:g.140739886C>T	ENSP00000429018:p.Pro62Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.P62S	p.P62S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	184	+			62			Extracellular (Potential).|Cadherin 1.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.184C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.572831	0.00133	.	.	ENSG00000253910	ENST00000522605	T	0.35421	1.31	5.11	-0.038	0.13881	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.11537	0.0281	N	0.02368	-0.58	0.09310	N	1	B;B	0.16166	0.009;0.016	B;B	0.24006	0.009;0.05	T	0.35773	-0.9775	9	0.02654	T	1	.	5.9152	0.19052	0.0:0.3509:0.3673:0.2818	.	62;62	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	S	62	ENSP00000429018:P62S	ENSP00000429018:P62S	P	+	1	0	PCDHGB2	140720070	0.000000	0.05858	0.011000	0.14972	0.081000	0.17604	-1.828000	0.01702	-0.014000	0.14175	0.563000	0.77884	CCA		PASS	0.537	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		5	125	5	125	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140794992	140794992	+	Silent	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:140794992T>G	ENST00000398610.2	+	1	2250	c.2250T>G	c.(2248-2250)gtT>gtG	p.V750V	PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	750					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V750V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGGGGTTCGGGCTTTCC	0.632																																						uc003lkl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2248-2250)GTT>GTG		protocadherin gamma subfamily A, 10 isoform 1							71.0	78.0	75.0					5																	140794992		2203	4300	6503	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794992T>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2250T>G	5.37:g.140794992T>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.V750V|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.V750V	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2250	+			750			Cytoplasmic (Potential).		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2250T>G	CCDS47292.1																																																																																				PASS	0.632	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		41	102	41	102	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140794994	140794994	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:140794994G>A	ENST00000398610.2	+	1	2252	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	751					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R751Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGTTCGGGCTTTCCTG	0.627																																						uc003lkl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2251-2253)CGG>CAG		protocadherin gamma subfamily A, 10 isoform 1							73.0	80.0	78.0					5																	140794994		2203	4300	6503	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794994G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2252G>A	5.37:g.140794994G>A	ENSP00000381611:p.Arg751Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.R751Q|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.R751Q	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2252	+			751			Cytoplasmic (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.2252G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	11.31	1.601360	0.28534	.	.	ENSG00000253846	ENST00000398610	T	0.47177	0.85	5.42	1.12	0.20585	.	.	.	.	.	T	0.25269	0.0614	N	0.17474	0.49	0.21719	N	0.999574	B;B	0.31351	0.304;0.32	B;B	0.24701	0.055;0.029	T	0.14531	-1.0469	9	0.21014	T	0.42	.	6.8588	0.24056	0.3512:0.0:0.5338:0.1151	.	751;751	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	Q	751	ENSP00000381611:R751Q	ENSP00000381611:R751Q	R	+	2	0	PCDHGA10	140775178	0.001000	0.12720	0.852000	0.33557	0.987000	0.75469	0.623000	0.24447	0.282000	0.22254	0.655000	0.94253	CGG		PASS	0.627	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		43	103	43	103	---	---	---	---
TIGD6	81789	broad.mit.edu	37	5	149374569	149374569	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:149374569G>T	ENST00000296736.3	-	2	2117	c.1343C>A	c.(1342-1344)gCa>gAa	p.A448E	TIGD6_ENST00000515406.2_Missense_Mutation_p.A448E	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	448						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A448E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCACTTCCTGCTTCACTGGT	0.438																																						uc003lri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)GCA>GAA		hypothetical protein LOC81789							150.0	140.0	143.0					5																	149374569		2203	4300	6503	SO:0001583	missense	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149374569G>T	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.1343C>A	5.37:g.149374569G>T	ENSP00000296736:p.Ala448Glu					TIGD6_uc003lrj.2_Missense_Mutation_p.A448E	p.A448E	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	2105	-			448					B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	c.1343C>A	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.031359	0.00410	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.13420	2.59;2.59	4.14	2.17	0.27698	.	0.556046	0.13572	U	0.377962	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	0.999999	P	0.41313	0.745	B	0.32393	0.145	T	0.16276	-1.0408	10	0.05833	T	0.94	.	7.4789	0.27393	0.1013:0.17:0.7287:0.0	.	448	Q17RP2	TIGD6_HUMAN	E	448	ENSP00000296736:A448E;ENSP00000425318:A448E	ENSP00000296736:A448E	A	-	2	0	TIGD6	149354762	0.690000	0.27699	0.437000	0.26809	0.447000	0.32167	1.067000	0.30616	1.095000	0.41419	0.563000	0.77884	GCA		PASS	0.438	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		53	140	53	140	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150947352	150947352	+	Missense_Mutation	SNP	C	C	A	rs149703698		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:150947352C>A	ENST00000261800.5	-	1	1153	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	381	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V381L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATCACCACGCGGCTGCCA	0.498																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1141-1143)GTG>TTG		FAT tumor suppressor 2 precursor							64.0	65.0	65.0					5																	150947352		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947352C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1141G>T	5.37:g.150947352C>A	ENSP00000261800:p.Val381Leu					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.V381L	p.V381L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1154	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	381			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1141G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122275	0.56613	.	.	ENSG00000086570	ENST00000261800	T	0.64085	-0.08	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.000000	0.56097	D	0.000035	T	0.80417	0.4619	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79588	-0.1741	10	0.44086	T	0.13	.	19.5945	0.95530	0.0:1.0:0.0:0.0	.	381	Q9NYQ8	FAT2_HUMAN	L	381	ENSP00000261800:V381L	ENSP00000261800:V381L	V	-	1	0	FAT2	150927545	1.000000	0.71417	0.070000	0.20053	0.029000	0.11900	7.755000	0.85180	2.642000	0.89623	0.561000	0.74099	GTG		PASS	0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	136	4	136	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156788526	156788526	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:156788526G>C	ENST00000521420.1	+	25	2972	c.2881G>C	c.(2881-2883)Gag>Cag	p.E961Q	CYFIP2_ENST00000435847.2_Missense_Mutation_p.E686Q|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E912Q|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E791Q|CTB-109A12.1_ENST00000509655.2_RNA|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E987Q|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1012Q|CYFIP2_ENST00000347377.6_Missense_Mutation_p.E987Q					cytoplasmic FMR1 interacting protein 2									p.E1012Q(2)|p.E987Q(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAGTACGCAGAGCTCAAAAC	0.547																																						uc003lwq.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2959-2961)GAG>CAG		cytoplasmic FMR1 interacting protein 2							100.0	102.0	102.0					5																	156788526		2203	4300	6503	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156788526G>C	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2881G>C	5.37:g.156788526G>C	ENSP00000430904:p.Glu961Gln					CYFIP2_uc011ddn.1_Missense_Mutation_p.E961Q|CYFIP2_uc011ddo.1_Missense_Mutation_p.E791Q|CYFIP2_uc003lwr.2_Missense_Mutation_p.E987Q|CYFIP2_uc003lws.2_Missense_Mutation_p.E987Q|CYFIP2_uc003lwt.2_Missense_Mutation_p.E890Q|CYFIP2_uc011ddp.1_Missense_Mutation_p.E721Q	p.E987Q	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		28	3097	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1012						Missense_Mutation	SNP	ENST00000521420.1	37	c.2959G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.116995	0.94385	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;P	0.71674	0.998;0.997;0.993;0.994;0.993;0.925	D;D;D;P;D;D	0.74023	0.933;0.982;0.947;0.892;0.936;0.932	T	0.58081	-0.7699	10	0.72032	D	0.01	-31.2571	19.5283	0.95215	0.0:0.0:1.0:0.0	.	851;791;961;987;987;1012	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	Q	1012;791;961;987;987;912;686	ENSP00000325817:E1012Q;ENSP00000428009:E791Q;ENSP00000430904:E961Q;ENSP00000313567:E987Q;ENSP00000366799:E987Q;ENSP00000444645:E912Q;ENSP00000403793:E686Q	ENSP00000325817:E1012Q	E	+	1	0	CYFIP2	156721104	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	9.814000	0.99346	2.596000	0.87737	0.655000	0.94253	GAG		PASS	0.547	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		7	68	7	68	---	---	---	---
ADRA1B	147	broad.mit.edu	37	5	159344738	159344738	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:159344738A>G	ENST00000306675.3	+	1	949	c.826A>G	c.(826-828)Agg>Ggg	p.R276G		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	276					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.R276G(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CCACAACCCCAGGAGTTCCAT	0.502																																						uc003lxt.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(826-828)AGG>GGG		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						83.0	85.0	84.0					5																	159344738		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344738A>G	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.826A>G	5.37:g.159344738A>G	ENSP00000306662:p.Arg276Gly						p.R276G	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	999	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	276			Cytoplasmic (By similarity).		B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.826A>G	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760758	0.49468	.	.	ENSG00000170214	ENST00000306675	T	0.64618	-0.11	5.93	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.67700	2.07	0.40646	D	0.981995	D	0.60160	0.987	P	0.60012	0.867	T	0.74306	-0.3708	10	0.72032	D	0.01	.	11.9385	0.52886	0.7243:0.2757:0.0:0.0	.	276	P35368	ADA1B_HUMAN	G	276	ENSP00000306662:R276G	ENSP00000306662:R276G	R	+	1	2	ADRA1B	159277316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.734000	0.47368	0.450000	0.26774	0.533000	0.62120	AGG		PASS	0.502	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			61	135	61	135	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168690660	168690660	+	Intron	SNP	G	G	A	rs528719712		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:168690660G>A	ENST00000519560.1	-	2	617				MIR585_ENST00000384887.1_RNA|SLIT3_ENST00000404867.3_Intron|SLIT3_ENST00000521130.1_Intron|SLIT3_ENST00000332966.8_Intron	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTCTGGGCGTATCTGTGTG	0.552																																					Ovarian(29;311 847 10864 17279 24903)	hsa-mir-585|MI0003592																			0					0															45.0	45.0	45.0					5																	168690660		1568	3582	5150	SO:0001627	intron_variant	693170							g.chr5:168690660G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.198-12197C>T	5.37:g.168690660G>A						SLIT3_uc003mab.2_Intron|SLIT3_uc010jjg.2_Intron|SLIT3_uc010jji.2_Intron										-								A6H8U9|J3KNP3|O95804|Q9UFH5	RNA	SNP	ENST00000519560.1	37	c.39G>A	CCDS4369.1																																																																																				PASS	0.552	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		20	48	20	48	---	---	---	---
TSPAN17	26262	broad.mit.edu	37	5	176084646	176084646	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:176084646G>T	ENST00000503045.1	+	9	932	c.877G>T	c.(877-879)Gtt>Ttt	p.V293F	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V316F|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V313F			Q96FV3	TSN17_HUMAN	tetraspanin 17	168					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)	p.V313F(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			cagccgacatgttttctttgg	0.547																																						uc003met.2																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)GTT>TTT		transmembrane 4 superfamily member 17 isoform a							31.0	37.0	35.0					5																	176084646		2203	4300	6503	SO:0001583	missense	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176084646G>T	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.877G>T	5.37:g.176084646G>T	ENSP00000425212:p.Val293Phe					TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.2_Missense_Mutation_p.V313F|TSPAN17_uc003mev.2_3'UTR|TSPAN17_uc003mew.2_3'UTR	p.V316F	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1175	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	ENST00000503045.1	37	c.946G>T		.	.	.	.	.	.	.	.	.	.	G	14.29	2.492653	0.44352	.	.	ENSG00000048140	ENST00000310032;ENST00000508164;ENST00000503045	T;T;T	0.18174	3.1;3.1;2.23	3.42	-0.477	0.12097	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.27791	0.189	B	0.27715	0.082	T	0.32640	-0.9899	9	0.87932	D	0	.	3.6642	0.08250	0.34:0.1887:0.4713:0.0	.	313	Q96FV3-4	.	F	316;313;293	ENSP00000309036:V316F;ENSP00000422053:V313F;ENSP00000425212:V293F	ENSP00000309036:V316F	V	+	1	0	TSPAN17	176017252	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	0.419000	0.21247	-0.125000	0.11703	-0.424000	0.05967	GTT		PASS	0.547	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			13	46	13	46	---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179740888	179740888	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr5:179740888G>A	ENST00000253778.8	-	14	1519	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	450	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.T450T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGCTGCCCACGGTGTTGGTGA	0.701																																						uc003mlw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1348-1350)ACC>ACT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						19.0	25.0	23.0					5																	179740888		2184	4277	6461	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179740888G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1350C>T	5.37:g.179740888G>A							p.T450T	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1448	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	450			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1350C>T	CCDS43411.1																																																																																				PASS	0.701	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		3	23	3	23	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	12749917	12749917	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:12749917G>T	ENST00000379350.1	+	3	274	c.145G>T	c.(145-147)Gca>Tca	p.A49S	PHACTR1_ENST00000332995.7_Missense_Mutation_p.A49S|PHACTR1_ENST00000379348.2_Missense_Mutation_p.A49S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	49					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.A49S(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ATTAATGGCGGCATCCTCGGA	0.647																																						uc010jpc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(145-147)GCA>TCA		phosphatase and actin regulator 1							24.0	30.0	28.0					6																	12749917		1926	4131	6057	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:12749917G>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.145G>T	6.37:g.12749917G>T	ENSP00000368655:p.Ala49Ser					PHACTR1_uc011dir.1_Missense_Mutation_p.A49S|PHACTR1_uc003nag.1_Missense_Mutation_p.A49S|PHACTR1_uc003nah.1_Missense_Mutation_p.A49S|PHACTR1_uc003nai.2_Missense_Mutation_p.A49S	p.A49S	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		4	477	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	49					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.145G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.704178|4.704178	0.88924|0.88924	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934|ENST00000406205	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.079354|.	0.49916|.	U|.	0.000136|.	T|T	0.31734|0.31734	0.0806|0.0806	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.64830|.	0.972;0.994;0.941;0.965|.	P;D;B;P|.	0.65323|.	0.746;0.934;0.258;0.53|.	T|T	0.29640|0.29640	-1.0005|-1.0005	10|5	0.72032|.	D|.	0.01|.	.|.	16.6248|16.6248	0.84967|0.84967	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;49;49;49|.	E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2|.	.;.;PHAR1_HUMAN;.|.	S|V	49|84	ENSP00000368655:A49S;ENSP00000368653:A49S;ENSP00000329880:A49S|.	ENSP00000329880:A49S|.	A|G	+|+	1|2	0|0	PHACTR1|PHACTR1	12857903|12857903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.123000|7.123000	0.77176|0.77176	2.152000|2.152000	0.67230|0.67230	0.305000|0.305000	0.20034|0.20034	GCA|GGC		PASS	0.647	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		12	17	12	17	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16144053	16144053	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:16144053C>T	ENST00000356840.3	+	5	984	c.786C>T	c.(784-786)agC>agT	p.S262S	MYLIP_ENST00000349606.4_Silent_p.S81S|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	262	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.			SG -> TR (in Ref. 3; AAF87323). {ECO:0000305}.	cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S262S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGGCGGCCAGCGGGCTCTACC	0.522																																						uc003nbq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(784-786)AGC>AGT		myosin regulatory light chain interacting							150.0	145.0	147.0					6																	16144053		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16144053C>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.786C>T	6.37:g.16144053C>T						MYLIP_uc003nbr.2_Silent_p.S81S	p.S262S	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	1023	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	262	SG -> TR (in Ref. 3; AAF87323).		FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.786C>T	CCDS4536.1																																																																																				PASS	0.522	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		8	310	8	310	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41773584	41773584	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:41773584C>A	ENST00000394253.3	-	3	1467	c.1138G>T	c.(1138-1140)Gcc>Tcc	p.A380S	USP49_ENST00000373010.1_Missense_Mutation_p.A380S|USP49_ENST00000373006.1_Missense_Mutation_p.A380S|USP49_ENST00000297229.2_Missense_Mutation_p.A380S|USP49_ENST00000373009.3_Missense_Mutation_p.A380S			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	380	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A380S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGAGCATGGCGAAGGGCGAC	0.597																																						uc003ori.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1138-1140)GCC>TCC		ubiquitin thioesterase 49							63.0	59.0	60.0					6																	41773584		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773584C>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1138G>T	6.37:g.41773584C>A	ENSP00000377797:p.Ala380Ser						p.A380S	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	1360	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		380					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1138G>T		.	.	.	.	.	.	.	.	.	.	C	19.56	3.851069	0.71719	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03025	-1.1081	10	0.30854	T	0.27	-16.1677	18.9245	0.92538	0.0:1.0:0.0:0.0	.	380	Q70CQ1-2	.	S	380	ENSP00000377797:A380S;ENSP00000362101:A380S;ENSP00000362100:A380S;ENSP00000362097:A380S;ENSP00000297229:A380S	ENSP00000297229:A380S	A	-	1	0	USP49	41881562	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.631000	0.89168	0.655000	0.94253	GCC		PASS	0.597	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		14	108	14	108	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43410728	43410728	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:43410728C>T	ENST00000372530.4	+	10	2462	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ABCC10_ENST00000244533.3_Silent_p.L721L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	749	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L721L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCTATCTCCTCGATGACCCTC	0.582																																						uc003ouy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2245-2247)CTC>CTT		ATP-binding cassette, sub-family C, member 10							78.0	65.0	70.0					6																	43410728		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43410728C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2247C>T	6.37:g.43410728C>T						ABCC10_uc003ouz.1_Silent_p.L721L|ABCC10_uc010jyo.1_5'UTR	p.L749L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		10	2462	+	all_lung(25;0.00536)		749			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.2247C>T	CCDS56430.1																																																																																				PASS	0.582	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		10	130	10	130	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754769	49754769	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:49754769G>A	ENST00000304801.3	-	1	284	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	44					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.I44I(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGATGCTTGGGATGGAAGCCT	0.463																																						uc003ozu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(130-132)ATC>ATT		phosphoglycerate kinase 2							214.0	181.0	192.0					6																	49754769		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754769G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.132C>T	6.37:g.49754769G>A							p.I44I	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	239	-	Lung NSC(77;0.0402)		44					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.132C>T	CCDS4930.1																																																																																				PASS	0.463	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			62	165	62	165	---	---	---	---
EEF1A1	1915	broad.mit.edu	37	6	74229735	74229735	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:74229735C>G	ENST00000316292.9	-	1	1006	c.15G>C	c.(13-15)aaG>aaC	p.K5N	EEF1A1_ENST00000309268.6_Missense_Mutation_p.K5N|EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K5N	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	5	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)	p.K5N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGATATGAGTCTTTTCCTTTC	0.433																																						uc003phi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)AAG>AAC		eukaryotic translation elongation factor 1 alpha							46.0	47.0	46.0					6																	74229735		2203	4287	6490	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229735C>G	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.15G>C	6.37:g.74229735C>G	ENSP00000339063:p.Lys5Asn					EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.K5N|EEF1A1_uc003phf.2_Missense_Mutation_p.K5N|EEF1A1_uc003phg.2_Missense_Mutation_p.K5N|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Missense_Mutation_p.K5N|EEF1A1_uc003phk.2_Missense_Mutation_p.K5N|EEF1A1_uc003phl.2_Missense_Mutation_p.K5N|EEF1A1_uc003phm.1_RNA	p.K5N	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	52	-			5					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.15G>C	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861943	0.51482	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.75265	0.3826	H	0.96547	3.84	0.80722	D	1	P;D;D;D;D	0.89917	0.743;1.0;1.0;1.0;1.0	B;D;D;D;D	0.97110	0.446;1.0;1.0;1.0;1.0	D	0.84381	0.0549	10	0.72032	D	0.01	.	17.0056	0.86392	0.0:1.0:0.0:0.0	.	5;5;5;5;5	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	N	5	ENSP00000339063:K5N;ENSP00000339053:K5N;ENSP00000330054:K5N;ENSP00000348651:K5N;ENSP00000392366:K5N	ENSP00000339053:K5N	K	-	3	2	EEF1A1	74286456	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.559000	0.53756	2.310000	0.77875	0.555000	0.69702	AAG		PASS	0.433	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		52	139	52	139	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76550324	76550324	+	Silent	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:76550324T>C	ENST00000369977.3	+	8	715	c.576T>C	c.(574-576)ttT>ttC	p.F192F	MYO6_ENST00000369985.4_Silent_p.F192F|MYO6_ENST00000369975.1_Silent_p.F192F|MYO6_ENST00000369981.3_Silent_p.F192F	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	192	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.F192F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TAGAAGCCTTTGGAAATGCGA	0.343																																						uc003pih.1																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(574-576)TTT>TTC		myosin VI							85.0	87.0	86.0					6																	76550324		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76550324T>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.576T>C	6.37:g.76550324T>C						MYO6_uc003pig.1_Silent_p.F192F|MYO6_uc003pii.1_Silent_p.F192F	p.F192F	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	8	855	+		all_hematologic(105;0.189)	192			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.576T>C	CCDS34487.1																																																																																				PASS	0.343	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		39	150	39	150	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90377791	90377791	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:90377791C>G	ENST00000369393.3	-	84	14151	c.14036G>C	c.(14035-14037)gGa>gCa	p.G4679A	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.G4679A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4679					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G4679A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTCCAATTCCACCTCCCTC	0.433																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(14035-14037)GGA>GCA		MDN1, midasin homolog							234.0	178.0	197.0					6																	90377791		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90377791C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14036G>C	6.37:g.90377791C>G	ENSP00000358400:p.Gly4679Ala						p.G4679A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	84	14152	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4679					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.14036G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387955	0.82902	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.74106	-0.81;-0.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86711	0.5998	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87165	0.2217	10	0.72032	D	0.01	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	4679	Q9NU22	MDN1_HUMAN	A	4679	ENSP00000358400:G4679A;ENSP00000413970:G4679A	ENSP00000358400:G4679A	G	-	2	0	MDN1	90434512	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	GGA		PASS	0.433	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			28	300	28	300	---	---	---	---
PNISR	25957	broad.mit.edu	37	6	99852551	99852551	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:99852551C>G	ENST00000369239.5	-	9	1234	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	PNISR_ENST00000438806.1_Missense_Mutation_p.E344Q	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	344						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E344Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGCAGAATTTCTGTTAGAAGC	0.318																																						uc003ppo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)GAA>CAA		splicing factor, arginine/serine-rich 130							100.0	98.0	99.0					6																	99852551		2202	4298	6500	SO:0001583	missense	25957					nuclear speck		g.chr6:99852551C>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1030G>C	6.37:g.99852551C>G	ENSP00000358242:p.Glu344Gln					SFRS18_uc003ppp.3_Missense_Mutation_p.E344Q|SFRS18_uc011eag.1_Missense_Mutation_p.E344Q	p.E344Q	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0631)	9	1258	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	344					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1030G>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424891	0.83667	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.41400	1.0;1.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64820	-0.6317	10	0.72032	D	0.01	.	19.2603	0.93966	0.0:1.0:0.0:0.0	.	344	Q8TF01	PNISR_HUMAN	Q	344	ENSP00000358242:E344Q;ENSP00000387997:E344Q	ENSP00000358242:E344Q	E	-	1	0	PNISR	99959272	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.346000	0.79347	2.546000	0.85860	0.643000	0.83706	GAA		PASS	0.318	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		18	107	18	107	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100895250	100895250	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:100895250G>C	ENST00000369208.3	-	9	1674	c.892C>G	c.(892-894)Ctg>Gtg	p.L298V	SIM1_ENST00000262901.4_Missense_Mutation_p.L298V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	298	PAC.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L298V(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTTTCGCCAGGAACCTGTAG	0.592																																						uc003pqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(892-894)CTG>GTG		single-minded homolog 1							143.0	108.0	120.0					6																	100895250		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100895250G>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.892C>G	6.37:g.100895250G>C	ENSP00000358210:p.Leu298Val					SIM1_uc010kcu.2_Missense_Mutation_p.L298V	p.L298V	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	8	1099	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	298			PAC.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.892C>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889901	0.72524	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.18657	2.2;2.2	6.17	2.44	0.29823	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	H	0.95114	3.625	0.58432	D	0.999997	D	0.76494	0.999	D	0.77557	0.99	T	0.56565	-0.7958	10	0.87932	D	0	.	10.4688	0.44624	0.3188:0.0:0.6812:0.0	.	298	P81133	SIM1_HUMAN	V	298	ENSP00000358210:L298V;ENSP00000262901:L298V	ENSP00000262901:L298V	L	-	1	2	SIM1	101001971	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	2.838000	0.48199	0.174000	0.19809	-0.140000	0.14226	CTG		PASS	0.592	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		7	64	7	64	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	111067360	111067360	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:111067360C>G	ENST00000368911.3	-	2	352	c.173G>C	c.(172-174)gGa>gCa	p.G58A	CDK19_ENST00000323817.3_5'UTR	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.G58A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CATGGATATTCCTGTGCCTTC	0.279																																						uc003puh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(172-174)GGA>GCA		cell division cycle 2-like 6 (CDK8-like)							178.0	171.0	173.0					6																	111067360		2203	4299	6502	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:111067360C>G	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.173G>C	6.37:g.111067360C>G	ENSP00000357907:p.Gly58Ala					CDK19_uc003pui.1_5'UTR	p.G58A	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			2	246	-			58			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.173G>C	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671593	0.88348	.	.	ENSG00000155111	ENST00000368911	T	0.64803	-0.12	5.95	5.95	0.96441	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	0.74703	0.3751	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75133	-0.3425	10	0.87932	D	0	-12.2883	20.3932	0.98965	0.0:1.0:0.0:0.0	.	58	Q9BWU1	CDK19_HUMAN	A	58	ENSP00000357907:G58A	ENSP00000357907:G58A	G	-	2	0	CDK19	111174053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.284000	0.78650	2.824000	0.97209	0.655000	0.94253	GGA		PASS	0.279	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		5	192	5	192	---	---	---	---
C6orf58	352999	broad.mit.edu	37	6	127898557	127898557	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:127898557C>A	ENST00000329722.7	+	1	239	c.227C>A	c.(226-228)gCa>gAa	p.A76E	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	76						extracellular vesicular exosome (GO:0070062)		p.A76E(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AGGTATTTTGCAAAATTTGCA	0.388																																						uc003qbh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GCA>GAA		hypothetical protein LOC352999 precursor							100.0	107.0	105.0					6																	127898557		2203	4300	6503	SO:0001583	missense	352999					extracellular region		g.chr6:127898557C>A	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.227C>A	6.37:g.127898557C>A	ENSP00000328069:p.Ala76Glu						p.A76E	NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	1	239	+			76					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.227C>A	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	0.996	-0.692453	0.03303	.	.	ENSG00000184530	ENST00000329722	T	0.44881	0.91	5.24	-2.71	0.05986	.	1.137940	0.06343	N	0.708325	T	0.04003	0.0112	N	0.02357	-0.585	0.09310	N	0.99999	B	0.18310	0.027	B	0.21151	0.033	T	0.31420	-0.9944	10	0.06494	T	0.89	-6.5465	6.7506	0.23485	0.2649:0.5678:0.0722:0.0951	.	76	Q6P5S2	CF058_HUMAN	E	76	ENSP00000328069:A76E	ENSP00000328069:A76E	A	+	2	0	C6orf58	127940250	0.032000	0.19561	0.615000	0.29064	0.848000	0.48234	-0.271000	0.08572	-0.331000	0.08501	-0.274000	0.10170	GCA		PASS	0.388	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		22	326	22	326	---	---	---	---
TMEM181	57583	broad.mit.edu	37	6	159046773	159046773	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:159046773G>T	ENST00000367090.3	+	13	1518	c.1507G>T	c.(1507-1509)Gta>Tta	p.V503L	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	503					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.V503L(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GACTTTCGTAGTACTTGTCAT	0.338																																						uc003qrm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1507-1509)GTA>TTA		G protein-coupled receptor 178							101.0	92.0	95.0					6																	159046773		1840	4089	5929	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159046773G>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1507G>T	6.37:g.159046773G>T	ENSP00000356057:p.Val503Leu					TMEM181_uc010kjr.1_Missense_Mutation_p.V334L	p.V503L	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	13	1518	+		Breast(66;0.000776)|Ovarian(120;0.0303)	503			Helical; (Potential).		Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1507G>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653499	0.88056	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.42131	0.98	5.41	5.41	0.78517	.	0.114293	0.64402	D	0.000016	T	0.57110	0.2031	M	0.77103	2.36	0.80722	D	1	D	0.58620	0.983	P	0.60345	0.873	T	0.59958	-0.7356	10	0.52906	T	0.07	.	18.818	0.92085	0.0:0.0:1.0:0.0	.	503	Q9P2C4	TM181_HUMAN	L	410;503	ENSP00000356057:V503L	ENSP00000323755:V410L	V	+	1	0	TMEM181	158966761	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.503000	0.73699	2.523000	0.85059	0.655000	0.94253	GTA		PASS	0.338	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		11	58	11	58	---	---	---	---
T	6862	broad.mit.edu	37	6	166574401	166574401	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr6:166574401A>C	ENST00000296946.2	-	8	1426	c.958T>G	c.(958-960)Tgg>Ggg	p.W320G	T_ENST00000366871.3_Missense_Mutation_p.W262G	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	320					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W320G(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGGCTGGACCAATTGTCATGG	0.517									Chordoma, Familial Clustering of																													uc003quu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(958-960)TGG>GGG		transcription factor T							166.0	146.0	153.0					6																	166574401		2203	4300	6503	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166574401A>C	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.958T>G	6.37:g.166574401A>C	ENSP00000296946:p.Trp320Gly					T_uc003qut.1_Missense_Mutation_p.W321G|T_uc003quv.1_Missense_Mutation_p.W262G	p.W320G	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	8	1451	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	320					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.958T>G	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048229	0.55110	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.84370	-1.84;-1.79	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.90252	3.1	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.974;1.0;0.974	D	0.93161	0.6558	10	0.54805	T	0.06	.	13.9997	0.64427	1.0:0.0:0.0:0.0	.	262;320;262	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	G	320;320;262	ENSP00000296946:W320G;ENSP00000355836:W262G	ENSP00000296946:W320G	W	-	1	0	T	166494391	1.000000	0.71417	0.798000	0.32154	0.332000	0.28634	8.201000	0.89735	1.953000	0.56701	0.533000	0.62120	TGG		PASS	0.517	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		7	163	7	163	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352353	5352353	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:5352353C>T	ENST00000430969.1	-	27	8517	c.8169G>A	c.(8167-8169)gcG>gcA	p.A2723A	TNRC18_ENST00000399537.4_Silent_p.A2723A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2723							chromatin binding (GO:0003682)	p.A2723A(2)|p.R1236H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGGCTGGGGCGCGGGCGTCT	0.746																																						uc003soi.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)		0						c.(8167-8169)GCG>GCA		trinucleotide repeat containing 18							6.0	8.0	8.0					7																	5352353		1165	2584	3749	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5352353C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8169G>A	7.37:g.5352353C>T							p.A2723A	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8518	-		Ovarian(82;0.142)	2723					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.8169G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	0.086	-1.174681	0.01646	.	.	ENSG00000182095	ENST00000399544	.	.	.	4.21	-7.37	0.01412	.	2.295900	0.02702	N	0.111836	T	0.24236	0.0587	.	.	.	0.22996	N	0.998458	.	.	.	.	.	.	T	0.25082	-1.0142	6	0.87932	D	0	.	0.5378	0.00640	0.2181:0.2226:0.2853:0.274	.	.	.	.	H	1236	.	ENSP00000382459:R1236H	R	-	2	0	TNRC18	5318879	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-3.151000	0.00582	-1.470000	0.01888	-0.350000	0.07774	CGC		PASS	0.746	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	25	9	25	---	---	---	---
NXPH1	30010	broad.mit.edu	37	7	8790697	8790697	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:8790697C>A	ENST00000405863.1	+	3	1025	c.114C>A	c.(112-114)agC>agA	p.S38R	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	38	II.					extracellular region (GO:0005576)		p.S38R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAGGAAGCAGCAAATCCACAC	0.418																																						uc003srv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(112-114)AGC>AGA		neurexophilin 1 precursor							97.0	94.0	95.0					7																	8790697		1970	4165	6135	SO:0001583	missense	30010					extracellular region		g.chr7:8790697C>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.114C>A	7.37:g.8790697C>A	ENSP00000384551:p.Ser38Arg					NXPH1_uc011jxh.1_5'UTR	p.S38R	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1025	+		Ovarian(82;0.0628)	38			II.		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.114C>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480090	0.26598	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	5.86	4.99	0.66335	.	0.184828	0.64402	D	0.000011	T	0.36193	0.0958	N	0.14661	0.345	0.80722	D	1	B	0.19583	0.037	B	0.11329	0.006	T	0.16394	-1.0404	9	0.15952	T	0.53	-13.6546	9.8287	0.40928	0.1389:0.7916:0.0:0.0696	.	38	P58417	NXPH1_HUMAN	R	38	.	ENSP00000384551:S38R	S	+	3	2	NXPH1	8757222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.865000	0.39479	1.493000	0.48517	-0.136000	0.14681	AGC		PASS	0.418	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		46	164	46	164	---	---	---	---
TWISTNB	221830	broad.mit.edu	37	7	19738155	19738155	+	Silent	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:19738155C>G	ENST00000222567.5	-	4	871	c.801G>C	c.(799-801)gcG>gcC	p.A267A		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	267	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.A267A(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGATGCCATTCGCATTATTAG	0.478																																						uc003sup.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(799-801)GCG>GCC		TWIST neighbor							299.0	319.0	312.0					7																	19738155		2203	4300	6503	SO:0001819	synonymous_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738155C>G	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.801G>C	7.37:g.19738155C>G							p.A267A	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			4	822	-			267			Lys-rich.		A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	c.801G>C	CCDS34606.1																																																																																				PASS	0.478	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			171	757	171	757	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20725340	20725340	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:20725340C>A	ENST00000404938.2	+	16	2543	c.1891C>A	c.(1891-1893)Cag>Aag	p.Q631K	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q186K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	631					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.Q631K(1)|p.Q186K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCTGATGAACAGATGGAGTC	0.348																																						uc003suw.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(556-558)CAG>AAG		ATP-binding cassette, sub-family B, member 5							77.0	72.0	74.0					7																	20725340		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20725340C>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1891C>A	7.37:g.20725340C>A	ENSP00000384881:p.Gln631Lys					ABCB5_uc010kuh.2_Missense_Mutation_p.Q631K	p.Q186K	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			7	1102	+			186			Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.556C>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.907110	0.00512	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.81996	-1.56;-1.56	4.28	-1.21	0.09524	.	1.644340	0.04193	N	0.328698	T	0.65923	0.2738	N	0.12887	0.27	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56056	-0.8042	10	0.02654	T	1	.	10.2526	0.43377	0.1421:0.3173:0.5406:0.0	.	631;186	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	K	631;186	ENSP00000384881:Q631K;ENSP00000258738:Q186K	ENSP00000258738:Q186K	Q	+	1	0	ABCB5	20691865	0.617000	0.27043	0.112000	0.21494	0.037000	0.13140	-0.252000	0.08806	-0.213000	0.10094	0.609000	0.83330	CAG		PASS	0.348	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		3	72	3	72	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21604007	21604007	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:21604007A>C	ENST00000409508.3	+	6	1217	c.1186A>C	c.(1186-1188)Att>Ctt	p.I396L	DNAH11_ENST00000328843.6_Missense_Mutation_p.I396L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	396	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I396L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATCTCTTCATTAACCAGGT	0.353									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1186-1188)ATT>CTT		dynein, axonemal, heavy chain 11							56.0	51.0	53.0					7																	21604007		1815	4075	5890	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21604007A>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1186A>C	7.37:g.21604007A>C	ENSP00000475939:p.Ile396Leu						p.I396L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			6	1217	+			396			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1186A>C		.	.	.	.	.	.	.	.	.	.	A	18.96	3.734185	0.69189	.	.	ENSG00000105877	ENST00000328843	T	0.58940	0.3	5.74	4.54	0.55810	Dynein heavy chain, domain-1 (1);	0.112515	0.56097	N	0.000021	T	0.58680	0.2139	M	0.79011	2.435	0.50813	D	0.999893	B	0.25048	0.117	B	0.25884	0.064	T	0.62872	-0.6762	10	0.59425	D	0.04	.	12.1603	0.54101	0.8574:0.1426:0.0:0.0	.	396	Q96DT5	DYH11_HUMAN	L	396	ENSP00000330671:I396L	ENSP00000330671:I396L	I	+	1	0	DNAH11	21570532	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.551000	0.73909	2.186000	0.69663	0.460000	0.39030	ATT		PASS	0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		25	60	25	60	---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32584372	32584372	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:32584372A>G	ENST00000318709.4	+	3	502	c.281A>G	c.(280-282)tAt>tGt	p.Y94C	AVL9_ENST00000409301.1_Missense_Mutation_p.Y94C|AVL9_ENST00000404479.1_Missense_Mutation_p.Y94C	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	94					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.Y94C(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATCTCTTGCTATCGACAAATT	0.353																																						uc003tcv.1																			2	Substitution - Missense(2)		lung(2)		0						c.(280-282)TAT>TGT		AVL9 homolog (S. cerevisiase)							100.0	92.0	95.0					7																	32584372		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32584372A>G	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.281A>G	7.37:g.32584372A>G	ENSP00000315568:p.Tyr94Cys					AVL9_uc011kai.1_Missense_Mutation_p.Y94C|AVL9_uc010kwj.1_5'UTR	p.Y94C	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			3	427	+			94					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.281A>G	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415902	0.83449	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70710	-0.4797	10	0.56958	D	0.05	-23.1772	16.3908	0.83537	1.0:0.0:0.0:0.0	.	94;94	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	C	94;94;94;94;25	ENSP00000315568:Y94C;ENSP00000387011:Y94C;ENSP00000385242:Y94C;ENSP00000395134:Y25C	ENSP00000315568:Y94C	Y	+	2	0	AVL9	32550897	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.752000	0.91632	2.269000	0.75478	0.455000	0.32223	TAT		PASS	0.353	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		31	49	31	49	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72891486	72891486	+	Silent	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:72891486T>G	ENST00000339594.4	-	7	2643	c.2305A>C	c.(2305-2307)Aga>Cga	p.R769R	BAZ1B_ENST00000404251.1_Silent_p.R769R	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	769					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.R769R(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)				ATCTGCTGTCTGGTCTCCATG	0.463																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(2305-2307)AGA>CGA		bromodomain adjacent to zinc finger domain, 1B							93.0	83.0	87.0					7																	72891486		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:72891486T>G	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.2305A>C	7.37:g.72891486T>G							p.R769R	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	2650	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	769			Potential.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.2305A>C	CCDS5549.1																																																																																				PASS	0.463	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		16	174	16	174	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121653467	121653467	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:121653467T>A	ENST00000393386.2	+	12	4778	c.4367T>A	c.(4366-4368)aTg>aAg	p.M1456K	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1456					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.M1456K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAAAAGGTAATGAATGATTCA	0.373																																						uc003vjy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(4366-4368)ATG>AAG		protein tyrosine phosphatase, receptor-type,							86.0	82.0	83.0					7																	121653467		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121653467T>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4367T>A	7.37:g.121653467T>A	ENSP00000377047:p.Met1456Lys					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.M1456K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4762	+			1456			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4367T>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	8.650	0.897966	0.17686	.	.	ENSG00000106278	ENST00000393386	T	0.42900	0.96	5.61	-1.43	0.08884	.	0.745723	0.12666	N	0.449239	T	0.31857	0.0810	L	0.51422	1.61	0.80722	D	1	B	0.17667	0.023	B	0.14023	0.01	T	0.08953	-1.0697	10	0.59425	D	0.04	.	5.6563	0.17644	0.1122:0.2715:0.0:0.6163	.	1456	P23471	PTPRZ_HUMAN	K	1456	ENSP00000377047:M1456K	ENSP00000377047:M1456K	M	+	2	0	PTPRZ1	121440703	0.985000	0.35326	0.297000	0.24988	0.037000	0.13140	0.370000	0.20433	-0.390000	0.07774	-0.417000	0.06048	ATG		PASS	0.373	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		54	95	54	95	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121718032	121718032	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:121718032C>T	ENST00000393376.1	-	22	2617	c.2522G>A	c.(2521-2523)aGc>aAc	p.S841N	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.S841N			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	841	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.S841N(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GATTCCAAAGCTGTCTCTCAT	0.358																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2521-2523)AGC>AAC		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						252.0	267.0	262.0					7																	121718032		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121718032C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2522G>A	7.37:g.121718032C>T	ENSP00000377040:p.Ser841Asn					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.S841N|AASS_uc011knw.1_Missense_Mutation_p.S329N	p.S841N	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			22	2618	-			841			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.2522G>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024172	0.35701	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.42900	0.96;0.96	5.56	1.6	0.23607	.	0.329287	0.38217	N	0.001768	T	0.29190	0.0726	L	0.49126	1.545	0.23483	N	0.997587	B	0.02656	0.0	B	0.10450	0.005	T	0.21177	-1.0253	10	0.38643	T	0.18	-2.5861	1.4411	0.02354	0.1399:0.3582:0.2723:0.2295	.	841	Q9UDR5	AASS_HUMAN	N	841	ENSP00000377040:S841N;ENSP00000403768:S841N	ENSP00000377040:S841N	S	-	2	0	AASS	121505268	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	1.884000	0.39668	0.014000	0.14944	0.585000	0.79938	AGC		PASS	0.358	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		216	579	216	579	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123599691	123599691	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:123599691C>T	ENST00000439500.1	+	6	1811	c.1198C>T	c.(1198-1200)Ctc>Ttc	p.L400F	SPAM1_ENST00000402183.2_Missense_Mutation_p.L400F|SPAM1_ENST00000223028.7_Missense_Mutation_p.L400F|SPAM1_ENST00000340011.5_Missense_Mutation_p.L400F|SPAM1_ENST00000460182.1_Missense_Mutation_p.L400F	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	400					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.L400F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTATCTTCACCTCAACCCAGA	0.408																																						uc003vld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)	4						c.(1198-1200)CTC>TTC		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						116.0	108.0	111.0					7																	123599691		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599691C>T	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1198C>T	7.37:g.123599691C>T	ENSP00000402123:p.Leu400Phe					SPAM1_uc003vle.2_Missense_Mutation_p.L400F|SPAM1_uc011koa.1_Missense_Mutation_p.L56F|SPAM1_uc003vlf.3_Missense_Mutation_p.L400F|SPAM1_uc010lku.2_Missense_Mutation_p.L400F	p.L400F	NM_153189	NP_694859	P38567	HYALP_HUMAN			6	1600	+			400					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1198C>T	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766843	0.69878	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.77	4.66	0.58398	.	0.082936	0.50627	D	0.000120	T	0.71492	0.3346	M	0.92555	3.32	0.41931	D	0.990561	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.75255	-0.3382	10	0.87932	D	0	-21.3408	6.9038	0.24297	0.0:0.6738:0.0:0.3262	.	400;400	Q8TC30;P38567	.;HYALP_HUMAN	F	400	ENSP00000386028:L400F;ENSP00000417934:L400F;ENSP00000345849:L400F;ENSP00000402123:L400F;ENSP00000223028:L400F	ENSP00000223028:L400F	L	+	1	0	SPAM1	123386927	1.000000	0.71417	0.988000	0.46212	0.766000	0.43426	2.665000	0.46791	1.234000	0.43709	0.650000	0.86243	CTC		PASS	0.408	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			48	124	48	124	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126544719	126544719	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:126544719T>A	ENST00000339582.2	-	4	1554	c.746A>T	c.(745-747)cAg>cTg	p.Q249L	GRM8_ENST00000405249.1_Missense_Mutation_p.Q249L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.Q249L|GRM8_ENST00000444921.2_Missense_Mutation_p.Q249L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	249					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.Q249L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTTCTGTGACTGAGCAATGCA	0.378										HNSCC(24;0.065)																												uc003vlr.2																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(745-747)CAG>CTG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						85.0	87.0	86.0					7																	126544719		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544719T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.746A>T	7.37:g.126544719T>A	ENSP00000344173:p.Gln249Leu	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Q249L|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	p.Q249L	NM_000845	NP_000836	O00222	GRM8_HUMAN			3	1057	-		Prostate(267;0.186)	249			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.746A>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933784	0.52866	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	L	0.53249	1.67	0.80722	D	1	P;B	0.48294	0.908;0.15	D;B	0.64144	0.922;0.115	D	0.87220	0.2253	10	0.27785	T	0.31	.	14.3421	0.66633	0.0:0.0:0.0:1.0	.	249;249	O00222-2;O00222	.;GRM8_HUMAN	L	249	ENSP00000344173:Q249L;ENSP00000409790:Q249L;ENSP00000351142:Q249L;ENSP00000385731:Q249L;ENSP00000415522:Q249L	ENSP00000344173:Q249L	Q	-	2	0	GRM8	126331955	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.970000	0.88000	1.981000	0.57761	0.455000	0.32223	CAG		PASS	0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			47	169	47	169	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700371	136700371	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr7:136700371T>A	ENST00000445907.2	+	3	1287	c.759T>A	c.(757-759)gaT>gaA	p.D253E	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.D253E|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.D253E|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D253E|CHRM2_ENST00000453373.1_Missense_Mutation_p.D253E|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D253E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	253					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.D253E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCAGTGACGATGGCCTGGAGC	0.507																																						uc003vtf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(757-759)GAT>GAA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						58.0	60.0	59.0					7																	136700371		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700371T>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.759T>A	7.37:g.136700371T>A	ENSP00000399745:p.Asp253Glu					CHRM2_uc003vtg.1_Missense_Mutation_p.D253E|CHRM2_uc003vtj.1_Missense_Mutation_p.D253E|CHRM2_uc003vtk.1_Missense_Mutation_p.D253E|CHRM2_uc003vtl.1_Missense_Mutation_p.D253E|CHRM2_uc003vtm.1_Missense_Mutation_p.D253E|CHRM2_uc003vti.1_Missense_Mutation_p.D253E|CHRM2_uc003vto.1_Missense_Mutation_p.D253E|CHRM2_uc003vtn.1_Missense_Mutation_p.D253E|uc003vtp.1_Intron	p.D253E	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1382	+			253			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.759T>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.903026	0.00512	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	5.4	-1.15	0.09709	GPCR, rhodopsin-like superfamily (1);	0.411149	0.25795	N	0.028256	T	0.35278	0.0926	L	0.29908	0.895	0.29171	N	0.87711	B	0.14805	0.011	B	0.18263	0.021	T	0.38243	-0.9670	10	0.02654	T	1	-0.2836	10.4554	0.44548	0.0:0.4226:0.0:0.5774	.	253	P08172	ACM2_HUMAN	E	253	ENSP00000399745:D253E;ENSP00000415386:D253E;ENSP00000319984:D253E;ENSP00000380733:D253E;ENSP00000384937:D253E;ENSP00000384401:D253E	ENSP00000319984:D253E	D	+	3	2	CHRM2	136350911	0.036000	0.19791	0.490000	0.27465	0.341000	0.28922	-0.540000	0.06106	-0.190000	0.10465	-0.256000	0.11100	GAT		PASS	0.507	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			21	62	21	62	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2824228	2824228	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:2824228C>T	ENST00000520002.1	-	59	9522	c.8967G>A	c.(8965-8967)atG>atA	p.M2989I	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.M2989I|CSMD1_ENST00000537824.1_Missense_Mutation_p.M2988I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2989	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.M2988I(1)|p.M2717I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACTGACAATCATTCCGTTGG	0.532																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(8965-8967)ATG>ATA		CUB and Sushi multiple domains 1 precursor							65.0	68.0	67.0					8																	2824228		2077	4211	6288	SO:0001583	missense	64478					integral to membrane		g.chr8:2824228C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8967G>A	8.37:g.2824228C>T	ENSP00000430733:p.Met2989Ile					CSMD1_uc011kwj.1_Missense_Mutation_p.M2318I|CSMD1_uc010lrg.2_Intron	p.M2989I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	58	9357	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2989			Extracellular (Potential).|Sushi 23.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8967G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.730|2.730	-0.264699|-0.264699	0.05754|0.05754	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.63913	.|-0.07;-0.07	5.46|5.46	3.64|3.64	0.41730|0.41730	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.203246	.|0.43579	.|D	.|0.000554	T|T	0.44850|0.44850	0.1313|0.1313	N|N	0.25060|0.25060	0.705|0.705	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23937	.|0.094;0.038	.|B;B	.|0.30495	.|0.06;0.116	T|T	0.15492|0.15492	-1.0435|-1.0435	5|10	.|0.18710	.|T	.|0.47	.|.	7.524|7.524	0.27645|0.27645	0.1362:0.7216:0.0:0.1422|0.1362:0.7216:0.0:0.1422	.|.	.|2989;2989	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	N|I	2406|2989;2850;2988	.|ENSP00000430733:M2989I;ENSP00000441462:M2988I	.|ENSP00000320445:M2850I	D|M	-|-	1|3	0|0	CSMD1|CSMD1	2811635|2811635	1.000000|1.000000	0.71417|0.71417	0.104000|0.104000	0.21259|0.21259	0.021000|0.021000	0.10359|0.10359	1.508000|1.508000	0.35769|0.35769	0.646000|0.646000	0.30693|0.30693	0.655000|0.655000	0.94253|0.94253	GAT|ATG		PASS	0.532	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	25	5	25	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59409687	59409687	+	Silent	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:59409687A>T	ENST00000301645.3	-	3	521	c.384T>A	c.(382-384)acT>acA	p.T128T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	128					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.T128T(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTTGATGAAAGTGTCGTTTA	0.433									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(382-384)ACT>ACA		cytochrome P450, family 7, subfamily A,							125.0	124.0	124.0					8																	59409687		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409687A>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.384T>A	8.37:g.59409687A>T							p.T128T	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	447	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	128					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.384T>A	CCDS6171.1																																																																																				PASS	0.433	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		45	159	45	159	---	---	---	---
YTHDF3	253943	broad.mit.edu	37	8	64100053	64100053	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:64100053A>G	ENST00000539294.1	+	4	1797	c.1481A>G	c.(1480-1482)gAt>gGt	p.D494G	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.D305G|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	495	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TGGTCTCAGGATAAGTGGAAG	0.393																																						uc003xuy.2																			0					0						c.(1483-1485)GAT>GGT		YTH domain family, member 3							165.0	156.0	159.0					8																	64100053		1973	4170	6143	SO:0001583	missense	253943							g.chr8:64100053A>G	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1481A>G	8.37:g.64100053A>G	ENSP00000473496:p.Asp494Gly					YTHDF3_uc010lys.2_Missense_Mutation_p.D439G|YTHDF3_uc003xuz.2_Missense_Mutation_p.D439G|YTHDF3_uc003xva.2_Missense_Mutation_p.D439G|YTHDF3_uc011len.1_Missense_Mutation_p.D439G	p.D495G	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1800	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	495			YTH.		B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.1484A>G																																																																																					PASS	0.393	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		3	89	3	89	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71044152	71044152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:71044152G>A	ENST00000452400.2	-	16	3425	c.3244C>T	c.(3244-3246)Cag>Tag	p.Q1082*	NCOA2_ENST00000267974.4_Nonsense_Mutation_p.Q170*	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1082					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.Q1082*(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGATACAGCTGGTCCAGGAGA	0.532			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Nonsense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(3244-3246)CAG>TAG		nuclear receptor coactivator 2							52.0	50.0	51.0					8																	71044152		1953	4171	6124	SO:0001587	stop_gained	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71044152G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3244C>T	8.37:g.71044152G>A	ENSP00000399968:p.Gln1082*					NCOA2_uc011lfb.1_Nonsense_Mutation_p.Q170*	p.Q1082*	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		16	3406	-	Breast(64;0.201)		1082	LLDQL->AADQA: Reduces transcriptional coactivation and disrupts interaction with CREBBP/CBP.|DQ->AA: Has little effect on transcriptional coactivation.		LLXXLXXXL motif.		Q14CD2	Nonsense_Mutation	SNP	ENST00000452400.2	37	c.3244C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846839	0.97016	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	.	.	.	5.92	5.92	0.95590	.	0.113361	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	.	.	.	X	1082;170	.	ENSP00000267974:Q170X	Q	-	1	0	NCOA2	71206706	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.431000	0.97494	2.809000	0.96659	0.655000	0.94253	CAG		PASS	0.532	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			11	17	11	17	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77768505	77768505	+	Silent	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:77768505C>A	ENST00000521891.2	+	10	9796	c.9348C>A	c.(9346-9348)tcC>tcA	p.S3116S	ZFHX4_ENST00000518282.1_Silent_p.S3090S|ZFHX4_ENST00000050961.6_Silent_p.S3071S|ZFHX4_ENST00000455469.2_Silent_p.S3071S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3071	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S3100S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGTCCATCCTCCTTGCCGG	0.502										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9211-9213)TCC>TCA		zinc finger homeodomain 4							36.0	36.0	36.0					8																	77768505		1912	4133	6045	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768505C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9348C>A	8.37:g.77768505C>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.S3116S|ZFHX4_uc003yaw.1_Silent_p.S3071S	p.S3071S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9600	+			3071			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9213C>A	CCDS47878.2																																																																																				PASS	0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	87	9	87	---	---	---	---
ANKRD46	157567	broad.mit.edu	37	8	101534833	101534833	+	Splice_Site	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:101534833C>T	ENST00000520552.1	-	5	798		c.e5+1		ANKRD46_ENST00000519597.1_Missense_Mutation_p.V213M|ANKRD46_ENST00000335659.3_Missense_Mutation_p.V213M|ANKRD46_ENST00000519316.1_Missense_Mutation_p.V160M|ANKRD46_ENST00000520311.1_Missense_Mutation_p.V213M	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46							integral component of membrane (GO:0016021)		p.V213M(2)		kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			ACCCCACTCACATAATAAGCA	0.488																																						uc003yjm.2																			2	Substitution - Missense(2)		lung(2)		0						c.e5+1		ankyrin repeat domain 46							120.0	97.0	105.0					8																	101534833		2203	4300	6503	SO:0001630	splice_region_variant	157567					integral to membrane		g.chr8:101534833C>T	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.636+1G>A	8.37:g.101534833C>T						ANKRD46_uc003yjn.1_Missense_Mutation_p.V213M|ANKRD46_uc003yjo.1_Missense_Mutation_p.V213M|ANKRD46_uc003yjp.1_Missense_Mutation_p.V213M	p.Y212_splice	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		5	840	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)							Q6P9B7	Splice_Site	SNP	ENST00000520552.1	37	c.636_splice	CCDS59109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.805422|4.805422	0.90623|0.90623	.|.	.|.	ENSG00000186106|ENSG00000186106	ENST00000520552|ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316	.|T;T;T;T	.|0.52526	.|0.72;0.72;0.72;0.66	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55893	.|0.1949	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D	.|0.58970	.|0.984	.|D	.|0.65323	.|0.934	.|T	.|0.50389	.|-0.8834	.|9	.|0.33141	.|T	.|0.24	.|.	20.2821|20.2821	0.98520|0.98520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213	.|Q86W74-2	.|.	.|M	-1|213;213;213;160	.|ENSP00000335287:V213M;ENSP00000430056:V213M;ENSP00000428388:V213M;ENSP00000430827:V160M	.|ENSP00000335287:V213M	.|V	-|-	.|1	.|0	ANKRD46|ANKRD46	101604009|101604009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	7.818000|7.818000	0.86416|0.86416	2.786000|2.786000	0.95864|0.95864	0.563000|0.563000	0.77884|0.77884	.|GTG		PASS	0.488	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401	Intron	14	96	14	96	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125035716	125035716	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:125035716G>T	ENST00000522917.1	+	18	2372	c.2166G>T	c.(2164-2166)tgG>tgT	p.W722C	FER1L6_ENST00000399018.1_Missense_Mutation_p.W722C|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	722						integral component of membrane (GO:0016021)		p.W722C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTCATCTGGATGCTCAGCA	0.532																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2164-2166)TGG>TGT		fer-1-like 6							119.0	121.0	120.0					8																	125035716		1978	4177	6155	SO:0001583	missense	654463					integral to membrane		g.chr8:125035716G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2166G>T	8.37:g.125035716G>T	ENSP00000428280:p.Trp722Cys					uc003yqx.1_Intron	p.W722C	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2372	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		722			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.2166G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121166	0.77436	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81247	-1.47;-1.47	5.6	5.6	0.85130	Ferlin B-domain (1);	0.182872	0.39083	U	0.001471	D	0.88134	0.6355	M	0.80508	2.5	0.80722	D	1	D	0.57571	0.98	P	0.55345	0.774	D	0.89295	0.3622	10	0.66056	D	0.02	.	18.3874	0.90471	0.0:0.0:1.0:0.0	.	722	Q2WGJ9	FR1L6_HUMAN	C	722	ENSP00000428280:W722C;ENSP00000381982:W722C	ENSP00000381982:W722C	W	+	3	0	FER1L6	125104897	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.116000	0.77119	2.642000	0.89623	0.555000	0.69702	TGG		PASS	0.532	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		80	193	80	193	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125058096	125058096	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:125058096A>C	ENST00000522917.1	+	21	2884	c.2678A>C	c.(2677-2679)gAg>gCg	p.E893A	FER1L6_ENST00000399018.1_Missense_Mutation_p.E893A|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	893	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.E893A(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGCTGGCAGAGTCCCCGCCC	0.562																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2677-2679)GAG>GCG		fer-1-like 6							156.0	164.0	162.0					8																	125058096		2010	4174	6184	SO:0001583	missense	654463					integral to membrane		g.chr8:125058096A>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2678A>C	8.37:g.125058096A>C	ENSP00000428280:p.Glu893Ala						p.E893A	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		21	2884	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		893			Cytoplasmic (Potential).|C2 3.			Missense_Mutation	SNP	ENST00000522917.1	37	c.2678A>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	8.069	0.769877	0.15983	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81996	-1.56;-1.56	5.52	-1.74	0.08056	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.205086	0.39475	U	0.001345	T	0.73329	0.3573	L	0.38953	1.18	0.09310	N	1	B	0.26195	0.144	B	0.36335	0.222	T	0.62882	-0.6760	10	0.40728	T	0.16	-3.1986	6.9163	0.24361	0.5163:0.352:0.1317:0.0	.	893	Q2WGJ9	FR1L6_HUMAN	A	893	ENSP00000428280:E893A;ENSP00000381982:E893A	ENSP00000381982:E893A	E	+	2	0	FER1L6	125127277	0.999000	0.42202	0.003000	0.11579	0.032000	0.12392	2.817000	0.48034	-0.422000	0.07405	-0.316000	0.08728	GAG		PASS	0.562	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		113	318	113	318	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140630900	140630900	+	Silent	SNP	G	G	A	rs113907649		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:140630900G>A	ENST00000520439.1	-	2	789	c.726C>T	c.(724-726)gtC>gtT	p.V242V	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.V242V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	242					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.V242V(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	ACCTGAGGACGACCAGGTTGA	0.572																																						uc003yvf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(724-726)GTC>GTT		potassium channel, subfamily K, member 9		G		1,4405	2.1+/-5.4	0,1,2202	43.0	48.0	46.0		726	2.7	1.0	8	dbSNP_132	46	0,8600		0,0,4300	no	coding-synonymous	KCNK9	NM_016601.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		242/375	140630900	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630900G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.726C>T	8.37:g.140630900G>A						KCNK9_uc003yvg.1_Silent_p.V242V|KCNK9_uc003yve.1_RNA	p.V242V	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	790	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	242			Cytoplasmic (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.726C>T	CCDS6377.1																																																																																				PASS	0.572	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		21	72	21	72	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144893462	144893462	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr8:144893462G>T	ENST00000320476.3	-	10	966	c.960C>A	c.(958-960)gaC>gaA	p.D320E	SCRIB_ENST00000377533.3_Missense_Mutation_p.D239E|SCRIB_ENST00000356994.2_Missense_Mutation_p.D320E|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	320	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.D320E(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGTGGTTCCGGTCCACGTTGA	0.667																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(958-960)GAC>GAA		scribble isoform b							32.0	26.0	28.0					8																	144893462		2203	4298	6501	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893462G>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.960C>A	8.37:g.144893462G>T	ENSP00000322938:p.Asp320Glu					SCRIB_uc003yzo.1_Missense_Mutation_p.D320E	p.D320E	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		10	967	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		320			LRR 13.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.960C>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293450	0.40594	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.51817	2.26;0.69;1.87	3.43	2.55	0.30701	.	.	.	.	.	T	0.47266	0.1436	N	0.16233	0.39	0.50039	D	0.999843	D;D	0.76494	0.994;0.999	P;D	0.75484	0.907;0.986	T	0.46652	-0.9176	9	0.72032	D	0.01	.	7.0244	0.24932	0.3065:0.0:0.6935:0.0	.	320;320	Q14160;Q14160-3	SCRIB_HUMAN;.	E	320;320;239	ENSP00000349486:D320E;ENSP00000322938:D320E;ENSP00000366756:D239E	ENSP00000322938:D320E	D	-	3	2	SCRIB	144965450	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	2.952000	0.49097	0.779000	0.33543	-0.222000	0.12452	GAC		PASS	0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		6	40	6	40	---	---	---	---
Unknown	0	broad.mit.edu	37	9	17150	17150	+	IGR	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:17150A>T								None (None upstream) : MIR1302-2 (10506 downstream)																							TGGCACATAGAAGTAGTTCTC	0.582																																						uc010mgm.1																			0					0						c.(697-699)TTC>TAC		WAS protein family homolog 1							26.0	36.0	34.0					9																	17150		646	1798	2444	SO:0001628	intergenic_variant	375690							g.chr9:17150A>T																													9.37:g.17150A>T						WASH5P_uc003zfr.2_RNA|WASH5P_uc011llq.1_RNA|WASH5P_uc003zfu.1_Missense_Mutation_p.F246Y	p.F233Y	NM_182905	NP_878908					7	841	-									Missense_Mutation	SNP		37	c.698T>A																																																																																				0	PASS	0.582									4	70	4	70	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13110012	13110012	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:13110012C>A	ENST00000319217.7	-	45	6128	c.5881G>T	c.(5881-5883)Gca>Tca	p.A1961S	MPDZ_ENST00000381022.2_Missense_Mutation_p.A1932S|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1928S|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1899S|MPDZ_ENST00000541093.1_Missense_Mutation_p.A195S|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1975S|MPDZ_ENST00000538841.1_Missense_Mutation_p.A820S|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1932S|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1961S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1961					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.A1933S(1)|p.A1932S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGGAACTTGCAGGCTCCTGC	0.458																																						uc010mhy.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(5794-5796)GCA>TCA		multiple PDZ domain protein							74.0	74.0	74.0					9																	13110012		1985	4173	6158	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13110012C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5881G>T	9.37:g.13110012C>A	ENSP00000320006:p.Ala1961Ser					MPDZ_uc003zkx.3_Missense_Mutation_p.A156S|MPDZ_uc003zky.3_Missense_Mutation_p.A495S|MPDZ_uc010mib.2_Missense_Mutation_p.A666S|MPDZ_uc010mhx.2_Missense_Mutation_p.A783S|MPDZ_uc011lmm.1_Missense_Mutation_p.A820S|MPDZ_uc003zkz.3_Missense_Mutation_p.A654S|MPDZ_uc010mhz.2_Missense_Mutation_p.A1928S|MPDZ_uc011lmn.1_Missense_Mutation_p.A1899S|MPDZ_uc003zlb.3_Missense_Mutation_p.A1932S	p.A1932S	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	43	5845	-			1961					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5794G>T		.	.	.	.	.	.	.	.	.	.	C	5.562	0.288497	0.10513	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.13778	2.85;2.82;2.82;2.56;2.63;2.79;2.82;2.83;2.87;2.85;2.85	5.83	1.89	0.25635	PDZ/DHR/GLGF (1);	0.871227	0.09683	N	0.769523	T	0.06554	0.0168	N	0.19112	0.55	0.09310	N	1	B;B;B;B;P;B;B;B	0.35174	0.236;0.001;0.0;0.348;0.488;0.348;0.013;0.0	B;B;B;B;B;B;B;B	0.36244	0.05;0.002;0.003;0.22;0.155;0.108;0.013;0.001	T	0.25950	-1.0117	10	0.05959	T	0.93	.	2.1696	0.03846	0.1154:0.3619:0.3025:0.2202	.	1899;820;666;1928;1841;1932;1961;654	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	S	1961;1932;1932;502;195;897;820;1899;1928;1961;1841;1975	ENSP00000320006:A1961S;ENSP00000439807:A1932S;ENSP00000370410:A1932S;ENSP00000415964:A502S;ENSP00000445259:A195S;ENSP00000444230:A897S;ENSP00000444717:A820S;ENSP00000444151:A1899S;ENSP00000415208:A1928S;ENSP00000370403:A1961S;ENSP00000446358:A1975S	ENSP00000320006:A1961S	A	-	1	0	MPDZ	13100012	0.193000	0.23313	0.061000	0.19648	0.474000	0.32979	0.411000	0.21115	0.467000	0.27218	0.644000	0.83932	GCA		PASS	0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		12	22	12	22	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974792	21974792	+	Nonsense_Mutation	SNP	G	G	T	rs141798398		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:21974792G>T	ENST00000304494.5	-	1	305	c.35C>A	c.(34-36)tCg>tAg	p.S12*	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.S12*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.S12*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.S12*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	12					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGTCAGCCGAAGGCTCCAT	0.761		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1345	Whole gene deletion(1316)|Unknown(23)|Substitution - Nonsense(3)|Deletion - Frameshift(2)|Deletion - In frame(1)	p.0?(1112)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.S12fs*14(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.P11_S12insAAGSSMEP(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM072935	CDKN2A	M	rs141798398	c.(34-36)TCG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21974792		1762	3675	5437	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974792G>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.35C>A	9.37:g.21974792G>T	ENSP00000307101:p.Ser12*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.S12*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.S12*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	247	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	12			ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.35C>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299778	0.81136	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	0.769	0.18492	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	6.402	0.21644	0.1644:0.2822:0.5533:0.0	.	.	.	.	X	12	.	ENSP00000307101:S12X	S	-	2	0	CDKN2A	21964792	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.050000	0.11904	0.041000	0.15688	0.655000	0.94253	TCG		PASS	0.761	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		3	7	3	7	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32541551	32541551	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:32541551G>A	ENST00000360538.2	-	3	3088	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L	TOPORS_ENST00000379858.1_Missense_Mutation_p.S926L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	991					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S991L(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTGTTCAACTGAAGCTGCCAG	0.413																																						uc003zrb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2971-2973)TCA>TTA		topoisomerase I binding, arginine/serine-rich							179.0	170.0	173.0					9																	32541551		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541551G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2972C>T	9.37:g.32541551G>A	ENSP00000353735:p.Ser991Leu					TOPORS_uc003zrc.2_Missense_Mutation_p.S924L	p.S991L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3139	-			991					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2972C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423761	0.62733	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.21031	2.03;2.06	5.61	5.61	0.85477	.	0.193030	0.25854	N	0.027867	T	0.16041	0.0386	N	0.19112	0.55	0.09310	N	1	B	0.27823	0.19	B	0.26517	0.07	T	0.19192	-1.0313	10	0.59425	D	0.04	-0.8054	14.9996	0.71462	0.0:0.1432:0.8568:0.0	.	991	Q9NS56	TOPRS_HUMAN	L	991;926	ENSP00000353735:S991L;ENSP00000369187:S926L	ENSP00000353735:S991L	S	-	2	0	TOPORS	32531551	0.999000	0.42202	0.579000	0.28588	0.759000	0.43091	3.047000	0.49854	2.804000	0.96469	0.650000	0.86243	TCA		PASS	0.413	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		10	281	10	281	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631934	32631934	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:32631934C>T	ENST00000242310.4	-	1	3733	c.3644G>A	c.(3643-3645)cGc>cAc	p.R1215H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1215					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1215H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTCCGTATGCGCACATAGGC	0.433																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3643-3645)CGC>CAC		TBP-associated factor RNA polymerase 1-like							167.0	149.0	155.0					9																	32631934		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631934C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3644G>A	9.37:g.32631934C>T	ENSP00000418379:p.Arg1215His					uc003zrh.1_5'Flank	p.R1215H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3734	-			1215					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3644G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297708	0.40694	.	.	ENSG00000122728	ENST00000242310	T	0.63417	-0.04	0.479	0.479	0.16796	.	0.096028	0.64402	D	0.000001	T	0.52517	0.1739	M	0.63843	1.955	0.52501	D	0.999955	B	0.18968	0.032	B	0.15052	0.012	T	0.50389	-0.8834	10	0.52906	T	0.07	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1215	Q8IZX4	TAF1L_HUMAN	H	1215	ENSP00000418379:R1215H	ENSP00000418379:R1215H	R	-	2	0	TAF1L	32621934	0.997000	0.39634	0.982000	0.44146	0.497000	0.33675	2.492000	0.45311	0.507000	0.28148	0.195000	0.17529	CGC		PASS	0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			22	227	22	227	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32632145	32632145	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:32632145G>A	ENST00000242310.4	-	1	3522	c.3433C>T	c.(3433-3435)Cgg>Tgg	p.R1145W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1145					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1145W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTCCTTCCGCTCCTGCTCC	0.468																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3433-3435)CGG>TGG		TBP-associated factor RNA polymerase 1-like							217.0	165.0	183.0					9																	32632145		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632145G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3433C>T	9.37:g.32632145G>A	ENSP00000418379:p.Arg1145Trp					uc003zrh.1_5'Flank	p.R1145W	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3523	-			1145					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3433C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164624	0.57476	.	.	ENSG00000122728	ENST00000242310	T	0.17213	2.29	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	M	0.81497	2.545	0.58432	D	0.999995	D	0.89917	1.0	D	0.65010	0.931	T	0.09250	-1.0683	10	0.87932	D	0	.	3.4488	0.07490	1.0E-4:1.0E-4:0.5509:0.449	.	1145	Q8IZX4	TAF1L_HUMAN	W	1145	ENSP00000418379:R1145W	ENSP00000418379:R1145W	R	-	1	2	TAF1L	32622145	1.000000	0.71417	0.997000	0.53966	0.651000	0.38670	1.906000	0.39887	0.507000	0.28148	0.195000	0.17529	CGG		PASS	0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			40	89	40	89	---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112151660	112151660	+	Splice_Site	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:112151660C>T	ENST00000374541.2	-	22	2211		c.e22-1		PTPN3_ENST00000412145.1_Splice_Site|PTPN3_ENST00000262539.3_Splice_Site|PTPN3_ENST00000394827.3_Splice_Site|PTPN3_ENST00000497739.1_Splice_Site|PTPN3_ENST00000446349.1_Splice_Site	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3						negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAATTTCCATCTGGTAAGAAA	0.463																																						uc004bed.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e22-1		protein tyrosine phosphatase, non-receptor type							51.0	51.0	51.0					9																	112151660		2203	4300	6503	SO:0001630	splice_region_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112151660C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2107-1G>A	9.37:g.112151660C>T						PTPN3_uc004beb.2_Splice_Site_p.M572_splice|PTPN3_uc004bec.2_Splice_Site_p.M527_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.M658_splice|PTPN3_uc011lwh.1_Splice_Site_p.M549_splice|PTPN3_uc011lwd.1_Splice_Site_p.M171_splice|PTPN3_uc011lwe.1_Splice_Site_p.M416_splice|PTPN3_uc011lwf.1_Splice_Site_p.M371_splice	p.M703_splice	NM_002829	NP_002820	P26045	PTN3_HUMAN			22	2219	-								A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	ENST00000374541.2	37	c.2107_splice	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303718	0.81136	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6091	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN3	111191481	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.605000	0.74155	2.650000	0.89964	0.655000	0.94253	.		PASS	0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		Intron	3	86	3	86	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138669264	138669264	+	Silent	SNP	C	C	A	rs139114208	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr9:138669264C>A	ENST00000263604.3	+	21	2373	c.2373C>A	c.(2371-2373)gcC>gcA	p.A791A	KCNT1_ENST00000486577.2_Silent_p.A769A|KCNT1_ENST00000490355.2_Silent_p.A789A|KCNT1_ENST00000491806.2_Silent_p.A777A|KCNT1_ENST00000487664.1_Silent_p.A765A|KCNT1_ENST00000298480.5_Silent_p.A810A|KCNT1_ENST00000371757.2_Silent_p.A810A|KCNT1_ENST00000488444.2_Silent_p.A791A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	791					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.A810A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGAGACGGCCGGCAATGGGC	0.582																																						uc011mdq.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(2428-2430)GCC>GCA		potassium channel, subfamily T, member 1							105.0	90.0	95.0					9																	138669264		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669264C>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2373C>A	9.37:g.138669264C>A						KCNT1_uc011mdr.1_Silent_p.A637A|KCNT1_uc010nbf.2_Silent_p.A765A|KCNT1_uc004cgo.1_Silent_p.A559A	p.A810A	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2504	+		Myeloproliferative disorder(178;0.0821)	810					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2430C>A																																																																																					PASS	0.582	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		28	80	28	80	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	890987	890987	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:890987C>T	ENST00000316157.3	-	5	479	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	147					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.E147K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTTGAGACTCATTTCCTCCT	0.388																																						uc001ifs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(439-441)GAG>AAG		La ribonucleoprotein domain family, member 4B							114.0	107.0	109.0					10																	890987		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:890987C>T	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.439G>A	10.37:g.890987C>T	ENSP00000326128:p.Glu147Lys						p.E147K	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			5	480	-			147					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.439G>A	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885737	0.51908	.	.	ENSG00000107929	ENST00000316157	T	0.32272	1.46	5.65	5.65	0.86999	.	0.255434	0.45606	D	0.000350	T	0.24198	0.0586	L	0.29908	0.895	0.58432	D	0.999992	P	0.37914	0.611	B	0.33196	0.159	T	0.02676	-1.1125	10	0.18710	T	0.47	-17.1046	20.0781	0.97751	0.0:1.0:0.0:0.0	.	147	Q92615	LAR4B_HUMAN	K	147	ENSP00000326128:E147K	ENSP00000326128:E147K	E	-	1	0	LARP4B	880987	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.359000	0.52292	2.817000	0.96982	0.563000	0.77884	GAG		PASS	0.388	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		36	86	36	86	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7618578	7618578	+	Missense_Mutation	SNP	G	G	T	rs75233092		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:7618578G>T	ENST00000256861.6	-	10	1894	c.1816C>A	c.(1816-1818)Cag>Aag	p.Q606K	ITIH5_ENST00000397145.2_Missense_Mutation_p.Q606K|ITIH5_ENST00000298441.6_Missense_Mutation_p.Q392K|ITIH5_ENST00000446830.2_Missense_Mutation_p.Q388K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.Q606K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	606					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q606K(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCCAGGGCCTGGGCCCGCTGC	0.647																																						uc001ijq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(1816-1818)CAG>AAG		inter-alpha trypsin inhibitor heavy chain							34.0	37.0	36.0					10																	7618578		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618578G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1816C>A	10.37:g.7618578G>T	ENSP00000256861:p.Gln606Lys					ITIH5_uc001ijp.2_Missense_Mutation_p.Q392K|ITIH5_uc001ijr.1_Missense_Mutation_p.Q606K	p.Q606K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			10	1895	-			606					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1816C>A		.	.	.	.	.	.	.	.	.	.	G	0.005	-2.122317	0.00346	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.2	3.23	0.37069	.	0.644721	0.16131	N	0.228163	T	0.15652	0.0377	.	.	.	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.20384	0.029;0.001;0.003	T	0.33727	-0.9857	9	0.10111	T	0.7	-5.2241	8.0019	0.30301	0.0:0.2401:0.459:0.3008	.	606;606;392	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	K	606;606;392;388;606	ENSP00000256861:Q606K;ENSP00000380333:Q606K;ENSP00000298441:Q392K;ENSP00000387969:Q388K;ENSP00000380332:Q606K	ENSP00000256861:Q606K	Q	-	1	0	ITIH5	7658584	0.975000	0.34042	0.002000	0.10522	0.054000	0.15201	1.654000	0.37334	0.500000	0.27991	0.462000	0.41574	CAG		PASS	0.647	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		13	34	13	34	---	---	---	---
STAM	8027	broad.mit.edu	37	10	17742236	17742236	+	Silent	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:17742236A>T	ENST00000377524.3	+	9	1085	c.870A>T	c.(868-870)gtA>gtT	p.V290V	STAM_ENST00000540523.1_Silent_p.V179V|RP11-390B4.3_ENST00000445235.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	290					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.V290V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGTTCAGGTAGAGACAATAG	0.313																																						uc001ipj.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(868-870)GTA>GTT		signal transducing adaptor molecule 1							127.0	117.0	120.0					10																	17742236		2203	4300	6503	SO:0001819	synonymous_variant	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17742236A>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.870A>T	10.37:g.17742236A>T						STAM_uc010qcf.1_Silent_p.V179V|STAM_uc009xjw.1_5'UTR	p.V290V	NM_003473	NP_003464	Q92783	STAM1_HUMAN			9	1086	+			290					B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	37	c.870A>T	CCDS7122.1																																																																																				PASS	0.313	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		12	114	12	114	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27382400	27382400	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:27382400C>T	ENST00000376087.4	-	3	574	c.409G>A	c.(409-411)Gct>Act	p.A137T	ANKRD26_ENST00000436985.2_Missense_Mutation_p.A137T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	137					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.A137T(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTGGATCAGCACCATGTTCT	0.413																																						uc001ith.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(409-411)GCT>ACT		ankyrin repeat domain 26							173.0	161.0	165.0					10																	27382400		2025	4219	6244	SO:0001583	missense	22852					centrosome		g.chr10:27382400C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.409G>A	10.37:g.27382400C>T	ENSP00000365255:p.Ala137Thr					ANKRD26_uc009xku.1_Missense_Mutation_p.A137T	p.A137T	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			3	581	-			137			ANK 3.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.409G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811146	0.96975	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.61859	0.07;0.07	4.15	4.15	0.48705	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.80989	0.4730	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85972	0.1477	9	0.66056	D	0.02	.	13.9448	0.64077	0.0:1.0:0.0:0.0	.	137;137	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	T	137	ENSP00000365255:A137T;ENSP00000405112:A137T	ENSP00000365255:A137T	A	-	1	0	ANKRD26	27422406	1.000000	0.71417	0.060000	0.19600	0.877000	0.50540	3.435000	0.52849	2.155000	0.67459	0.484000	0.47621	GCT		PASS	0.413	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			12	107	12	107	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37421200	37421200	+	Silent	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:37421200G>C	ENST00000602533.1	+	4	474	c.375G>C	c.(373-375)acG>acC	p.T125T	ANKRD30A_ENST00000374660.1_Silent_p.T125T|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Silent_p.T125T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	181					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T125T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATCCATAACGAAAAGAAGTG	0.284																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(373-375)ACG>ACC		ankyrin repeat domain 30A							63.0	61.0	62.0					10																	37421200		1797	4070	5867	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37421200G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.375G>C	10.37:g.37421200G>C							p.T125T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			4	474	+			181			ANK 4.		Q5W025	Silent	SNP	ENST00000602533.1	37	c.375G>C																																																																																					PASS	0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		17	94	17	94	---	---	---	---
HNRNPF	3185	broad.mit.edu	37	10	43882414	43882414	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:43882414T>A	ENST00000544000.1	-	4	1326	c.919A>T	c.(919-921)Aac>Tac	p.N307Y	HNRNPF_ENST00000443950.2_Missense_Mutation_p.N307Y|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.N307Y|HNRNPF_ENST00000337970.3_Missense_Mutation_p.N307Y|HNRNPF_ENST00000357065.4_Missense_Mutation_p.N307Y	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	307	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.N307Y(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GAGAAGAAGTTGTAAATGTCG	0.517																																						uc009xmh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(919-921)AAC>TAC		heterogeneous nuclear ribonucleoprotein F							71.0	62.0	65.0					10																	43882414		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882414T>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.919A>T	10.37:g.43882414T>A	ENSP00000438061:p.Asn307Tyr					HNRNPF_uc001jar.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jas.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jat.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jav.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jau.2_Missense_Mutation_p.N307Y|uc010qfa.1_Silent_p.V32V	p.N307Y	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	1406	-			307			RRM 3.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.919A>T	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766919	0.31320	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	4.38	3.24	0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.047167	0.85682	D	0.000000	T	0.29914	0.0748	M	0.83223	2.63	0.58432	D	0.999999	P	0.49559	0.925	P	0.62382	0.901	T	0.02713	-1.1120	10	0.72032	D	0.01	-25.6518	9.0574	0.36414	0.1644:0.0:0.0:0.8356	.	307	P52597	HNRPF_HUMAN	Y	307;307;307;307;307;230	ENSP00000438061:N307Y;ENSP00000400433:N307Y;ENSP00000348345:N307Y;ENSP00000349573:N307Y;ENSP00000338477:N307Y	ENSP00000338477:N307Y	N	-	1	0	HNRNPF	43202420	1.000000	0.71417	0.992000	0.48379	0.857000	0.48899	7.198000	0.77823	0.999000	0.39023	0.533000	0.62120	AAC		PASS	0.517	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			13	113	13	113	---	---	---	---
HNRNPF	3185	broad.mit.edu	37	10	43882837	43882837	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:43882837C>G	ENST00000544000.1	-	4	903	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	HNRNPF_ENST00000443950.2_Missense_Mutation_p.E166Q|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E166Q|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E166Q|HNRNPF_ENST00000357065.4_Missense_Mutation_p.E166Q	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	166	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.E166Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						AGAGCCTTCTCAGCTAACTCC	0.522																																						uc009xmh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(496-498)GAG>CAG		heterogeneous nuclear ribonucleoprotein F							121.0	114.0	116.0					10																	43882837		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882837C>G		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.496G>C	10.37:g.43882837C>G	ENSP00000438061:p.Glu166Gln					HNRNPF_uc001jar.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jas.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jat.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jav.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jau.2_Missense_Mutation_p.E166Q|uc010qfa.1_3'UTR	p.E166Q	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	983	-			166			RRM 2.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.496G>C	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667156	0.67814	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	4.17	4.17	0.49024	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01409	-1.1362	10	0.33141	T	0.24	-36.027	14.7891	0.69827	0.0:1.0:0.0:0.0	.	166	P52597	HNRPF_HUMAN	Q	166;166;166;166;166;89	ENSP00000438061:E166Q;ENSP00000400433:E166Q;ENSP00000348345:E166Q;ENSP00000349573:E166Q;ENSP00000338477:E166Q	ENSP00000338477:E166Q	E	-	1	0	HNRNPF	43202843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.000000	0.76290	2.610000	0.88304	0.655000	0.94253	GAG		PASS	0.522	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			19	139	19	139	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48390698	48390698	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:48390698C>A	ENST00000224600.4	-	1	293	c.180G>T	c.(178-180)gaG>gaT	p.E60D		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	60	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.E60D(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGCTCAGAATCTCATGGCTCT	0.592																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(178-180)GAG>GAT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						62.0	55.0	58.0					10																	48390698		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390698C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.180G>T	10.37:g.48390698C>A	ENSP00000224600:p.Glu60Asp						p.E60D	NM_002900	NP_002891	P10745	RET3_HUMAN			1	294	-			60			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.180G>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771811	0.69992	.	.	ENSG00000107618	ENST00000224600	T	0.60797	0.16	5.71	5.71	0.89125	.	0.045737	0.85682	D	0.000000	T	0.67524	0.2902	M	0.78456	2.415	0.51767	D	0.999933	P	0.48503	0.911	P	0.46362	0.514	T	0.73110	-0.4086	10	0.87932	D	0	-40.8092	18.848	0.92215	0.0:1.0:0.0:0.0	.	60	P10745	RET3_HUMAN	D	60	ENSP00000224600:E60D	ENSP00000224600:E60D	E	-	3	2	RBP3	48010704	1.000000	0.71417	0.993000	0.49108	0.645000	0.38454	2.246000	0.43142	2.710000	0.92621	0.655000	0.94253	GAG		PASS	0.592	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		29	116	29	116	---	---	---	---
AGAP7P	653268	broad.mit.edu	37	10	51465318	51465318	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:51465318G>T	ENST00000374095.5	-	7	1263	c.1138C>A	c.(1138-1140)Cta>Ata	p.L380I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		380	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L380I(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TTCTTCTTTAGGTGTTTCTTT	0.527																																						uc001jio.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)CTA>ATA		ArfGAP with GTPase domain, ankyrin repeat and PH							25.0	32.0	30.0					10																	51465318		1772	3791	5563	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465318G>T																												ENST00000374095.5:c.1138C>A	10.37:g.51465318G>T	ENSP00000363208:p.Leu380Ile					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	p.L380I	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			7	1264	-			380			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1138C>A	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	9.166	1.020019	0.19433	.	.	ENSG00000204169	ENST00000374095	T	0.75589	-0.95	.	.	.	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.287711	0.32120	N	0.006551	T	0.66771	0.2823	L	0.39898	1.24	0.22656	N	0.998887	P	0.43973	0.823	P	0.48063	0.565	T	0.58864	-0.7561	9	0.56958	D	0.05	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	380	Q5VUJ5	AGAP7_HUMAN	I	380	ENSP00000363208:L380I	ENSP00000363208:L380I	L	-	1	2	AGAP7	51135324	0.989000	0.36119	0.022000	0.16811	0.022000	0.10575	1.540000	0.36115	0.172000	0.19760	0.175000	0.17021	CTA		PASS	0.527	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			48	142	48	142	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52573658	52573658	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:52573658G>A	ENST00000373993.1	-	8	1350	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395489.2_Missense_Mutation_p.P429S|A1CF_ENST00000373997.3_Missense_Mutation_p.P428S|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.P436S|A1CF_ENST00000282641.2_Missense_Mutation_p.P436S|A1CF_ENST00000374001.2_Missense_Mutation_p.P428S|A1CF_ENST00000395495.1_Missense_Mutation_p.P381S			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	436					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.P428S(1)|p.P436S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AATGTGACAGGATTCATTGGG	0.438																																						uc001jjj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1306-1308)CCT>TCT		apobec-1 complementation factor isoform 2							151.0	153.0	152.0					10																	52573658		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573658G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1306C>T	10.37:g.52573658G>A	ENSP00000363105:p.Pro436Ser					A1CF_uc010qhn.1_Missense_Mutation_p.P436S|A1CF_uc001jji.2_Missense_Mutation_p.P428S|A1CF_uc001jjh.2_Missense_Mutation_p.P436S|A1CF_uc010qho.1_Missense_Mutation_p.P444S|A1CF_uc009xov.2_Missense_Mutation_p.P428S	p.P436S	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			10	1494	-			436					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1306C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105132	0.20632	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.14766	2.75;2.73;2.75;2.71;2.73;2.48;2.73	5.87	4.95	0.65309	.	0.266360	0.43260	D	0.000600	T	0.15609	0.0376	L	0.47190	1.495	0.32852	D	0.506769	B;B;B;B	0.31949	0.348;0.061;0.073;0.123	B;B;B;B	0.36244	0.22;0.045;0.053;0.062	T	0.12915	-1.0529	10	0.48119	T	0.1	-7.5986	11.6903	0.51512	0.0:0.0:0.6671:0.3329	.	429;436;428;436	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	S	428;436;428;436;436;381;411;429	ENSP00000363113:P428S;ENSP00000363105:P436S;ENSP00000363109:P428S;ENSP00000363107:P436S;ENSP00000282641:P436S;ENSP00000378873:P381S;ENSP00000378868:P429S	ENSP00000282641:P436S	P	-	1	0	A1CF	52243664	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	4.058000	0.57463	1.426000	0.47256	0.655000	0.94253	CCT		PASS	0.438	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		56	182	56	182	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67829247	67829247	+	Splice_Site	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:67829247C>A	ENST00000433211.2	-	15	2152	c.1978G>T	c.(1978-1980)Gct>Tct	p.A660S	CTNNA3_ENST00000373744.4_Splice_Site_p.A660S|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.A660S(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTCATCTTAGCCTAAAACATG	0.328																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1978-1980)GCT>TCT		catenin, alpha 3							120.0	108.0	112.0					10																	67829247		2203	4300	6503	SO:0001630	splice_region_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67829247C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1978-1G>T	10.37:g.67829247C>A						CTNNA3_uc001jmw.2_Missense_Mutation_p.A660S	p.A660S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			15	2101	-			660						Missense_Mutation	SNP	ENST00000433211.2	37	c.1978G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966515	0.74131	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37752	1.18;1.18	5.29	5.29	0.74685	.	0.000000	0.47852	D	0.000203	T	0.53334	0.1790	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.40664	-0.9551	10	0.18710	T	0.47	-8.6037	16.4194	0.83753	0.0:1.0:0.0:0.0	.	660	Q9UI47	CTNA3_HUMAN	S	660	ENSP00000389714:A660S;ENSP00000362849:A660S	ENSP00000362849:A660S	A	-	1	0	CTNNA3	67499253	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.529000	0.81952	2.483000	0.83821	0.591000	0.81541	GCT		PASS	0.328	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Missense_Mutation	22	175	22	175	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69935179	69935179	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:69935179G>A	ENST00000358913.5	+	12	3152	c.2664G>A	c.(2662-2664)ggG>ggA	p.G888G	MYPN_ENST00000540630.1_Silent_p.G888G|MYPN_ENST00000354393.2_Silent_p.G613G	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	888					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.G888G(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGACTTGGGGAAAAAAATAA	0.363																																						uc001jnm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(2662-2664)GGG>GGA		myopalladin							113.0	111.0	112.0					10																	69935179		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69935179G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2664G>A	10.37:g.69935179G>A						MYPN_uc001jnn.3_Silent_p.G613G|MYPN_uc001jno.3_Silent_p.G888G|MYPN_uc009xpt.2_Silent_p.G888G|MYPN_uc010qit.1_Silent_p.G594G|MYPN_uc010qiu.1_Intron	p.G888G	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			13	2849	+			888					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.2664G>A	CCDS7275.1																																																																																				PASS	0.363	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		16	124	16	124	---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74684331	74684331	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:74684331G>A	ENST00000334011.5	+	7	1514	c.1296G>A	c.(1294-1296)ttG>ttA	p.L432L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	432	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L432L(1)|p.L432F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGGAAAGCTTGGTGGAGAGCT	0.557																																					Colon(7;19 345 13446 17537)	uc001jte.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		cervix(1)|lung(1)	ovary(2)	2						c.(1294-1296)TTG>TTA		oncoprotein-induced transcript 3 precursor							83.0	72.0	76.0					10																	74684331		2203	4300	6503	SO:0001819	synonymous_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74684331G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1296G>A	10.37:g.74684331G>A						OIT3_uc009xqs.1_Intron	p.L432L	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			7	1514	+	Prostate(51;0.0198)		432			ZP.		A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	c.1296G>A	CCDS7318.1																																																																																				PASS	0.557	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		11	90	11	90	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75520505	75520505	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:75520505T>A	ENST00000339365.2	+	7	1047	c.885T>A	c.(883-885)aaT>aaA	p.N295K	SEC24C_ENST00000345254.4_Missense_Mutation_p.N295K|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.N153K|SEC24C_ENST00000411652.2_Missense_Mutation_p.N153K|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	295					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.N295K(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CTCAGTCTAATTATGGAGGCC	0.582																																						uc001juw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(883-885)AAT>AAA		SEC24-related protein C							59.0	67.0	64.0					10																	75520505		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75520505T>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.885T>A	10.37:g.75520505T>A	ENSP00000343405:p.Asn295Lys					SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Missense_Mutation_p.N153K|SEC24C_uc001jux.2_Missense_Mutation_p.N295K|SEC24C_uc010qko.1_Missense_Mutation_p.N153K|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.N295K	NM_004922	NP_004913	P53992	SC24C_HUMAN			7	1064	+	Prostate(51;0.0112)		295					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.885T>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566647	0.45694	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.21734	1.99;1.99;1.99	5.81	1.74	0.24563	.	0.194460	0.56097	D	0.000033	T	0.15609	0.0376	L	0.50333	1.59	0.80722	D	1	B;P;B	0.42375	0.349;0.778;0.227	B;B;B	0.40565	0.142;0.333;0.09	T	0.09729	-1.0661	10	0.18710	T	0.47	-7.1048	5.2751	0.15645	0.1308:0.2844:0.0:0.5848	.	153;295;295	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	K	153;295;295;153	ENSP00000321845:N295K;ENSP00000343405:N295K;ENSP00000402913:N153K	ENSP00000343405:N295K	N	+	3	2	SEC24C	75190511	0.992000	0.36948	1.000000	0.80357	0.971000	0.66376	0.281000	0.18810	0.457000	0.26962	0.533000	0.62120	AAT		PASS	0.582	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			22	161	22	161	---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88834324	88834324	+	Silent	SNP	T	T	G	rs368203417	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:88834324T>G	ENST00000277865.4	-	4	726	c.630A>C	c.(628-630)gcA>gcC	p.A210A	GLUD1_ENST00000544149.1_Silent_p.A77A|GLUD1_ENST00000537649.1_Silent_p.A43A	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	210					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)	p.A210A(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	AGCCCTTTTTTGCTAGCTCCA	0.313																																						uc001keh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)GCA>GCC		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						85.0	83.0	84.0					10																	88834324		2203	4296	6499	SO:0001819	synonymous_variant	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88834324T>G	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.630A>C	10.37:g.88834324T>G						GLUD1_uc001keg.2_Silent_p.A43A|GLUD1_uc010qmp.1_Silent_p.A77A	p.A210A	NM_005271	NP_005262	P00367	DHE3_HUMAN			4	727	-			210					B3KV55|B4DGN5|Q5TBU3	Silent	SNP	ENST00000277865.4	37	c.630A>C	CCDS7382.1																																																																																				PASS	0.313	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		5	236	5	236	---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95518036	95518036	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:95518036G>A	ENST00000371418.4	+	1	395	c.135G>A	c.(133-135)gtG>gtA	p.V45V	LGI1_ENST00000542308.1_Silent_p.V45V|LGI1_ENST00000371413.3_Silent_p.V45V|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	45	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.V45V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GCCCTGCCGTGTGTACTTGTA	0.453																																						uc001kjc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(133-135)GTG>GTA		leucine-rich, glioma inactivated 1 precursor							169.0	168.0	168.0					10																	95518036		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95518036G>A	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.135G>A	10.37:g.95518036G>A						LGI1_uc010qnv.1_Silent_p.V45V|LGI1_uc001kjd.3_Silent_p.V45V|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA	p.V45V	NM_005097	NP_005088	O95970	LGI1_HUMAN			1	471	+		Colorectal(252;0.124)	45			LRRNT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.135G>A	CCDS7431.1																																																																																				PASS	0.453	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		16	183	16	183	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105162882	105162882	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:105162882G>T	ENST00000369797.3	+	4	336	c.242G>T	c.(241-243)tGt>tTt	p.C81F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	81					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.C81F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGTCCCTGTGTGAGGGAATG	0.443																																						uc001kwy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(241-243)TGT>TTT		programmed cell death 11							196.0	194.0	195.0					10																	105162882		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105162882G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.242G>T	10.37:g.105162882G>T	ENSP00000358812:p.Cys81Phe						p.C81F	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	4	329	+		Colorectal(252;0.0747)|Breast(234;0.128)	81					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.242G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596851	0.28445	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.16457	2.34	5.13	4.23	0.50019	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);	0.381500	0.30043	N	0.010551	T	0.14787	0.0357	L	0.41824	1.3	0.34429	D	0.698312	B	0.21071	0.051	B	0.17722	0.019	T	0.09465	-1.0673	10	0.62326	D	0.03	-0.7862	9.7955	0.40733	0.0783:0.1406:0.7811:0.0	.	81	Q14690	RRP5_HUMAN	F	81	ENSP00000358812:C81F	ENSP00000358812:C81F	C	+	2	0	PDCD11	105152872	0.998000	0.40836	0.984000	0.44739	0.775000	0.43874	1.884000	0.39668	1.165000	0.42670	0.305000	0.20034	TGT		PASS	0.443	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			84	289	84	289	---	---	---	---
LRRC27	80313	broad.mit.edu	37	10	134188614	134188614	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:134188614A>C	ENST00000368614.3	+	11	1566	c.1461A>C	c.(1459-1461)ttA>ttC	p.L487F	LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_Missense_Mutation_p.L425F|LRRC27_ENST00000368613.4_Missense_Mutation_p.L487F|LRRC27_ENST00000368612.1_Missense_Mutation_p.L425F|LRRC27_ENST00000392638.2_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	487								p.L487F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATTGGGATTAACCTTGAACA	0.488																																						uc010quw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1459-1461)TTA>TTC		leucine rich repeat containing 27 isoform a							75.0	75.0	75.0					10																	134188614		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134188614A>C	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1461A>C	10.37:g.134188614A>C	ENSP00000357603:p.Leu487Phe					LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.L487F|LRRC27_uc001llj.2_Missense_Mutation_p.L425F	p.L487F	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	11	1656	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	487					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1461A>C	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	A	7.409	0.634361	0.14322	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T	0.15256	2.44;2.44;4.2;4.2	2.8	-5.6	0.02497	.	2.998320	0.01586	N	0.021312	T	0.08802	0.0218	N	0.22421	0.69	0.09310	N	1	P;P	0.45902	0.799;0.868	B;B	0.37198	0.217;0.243	T	0.21621	-1.0240	10	0.45353	T	0.12	0.0069	2.3754	0.04340	0.2227:0.4453:0.1945:0.1374	.	425;487	Q9C0I9-2;Q9C0I9	.;LRC27_HUMAN	F	487;487;425;425	ENSP00000357603:L487F;ENSP00000357602:L487F;ENSP00000357601:L425F;ENSP00000357599:L425F	ENSP00000357599:L425F	L	+	3	2	LRRC27	134038604	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.724000	0.04947	-1.485000	0.01854	-1.251000	0.01509	TTA		PASS	0.488	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		8	84	8	84	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135011179	135011179	+	Splice_Site	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr10:135011179G>T	ENST00000304613.3	+	12	1834	c.1813G>T	c.(1813-1815)Gtg>Ttg	p.V605L	KNDC1_ENST00000368572.2_Splice_Site_p.V605L|KNDC1_ENST00000368571.2_Splice_Site_p.V540L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	605	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V605L(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCTCCCCAGGTGTACCAGGA	0.677																																						uc001llz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1813-1815)GTG>TTG		kinase non-catalytic C-lobe domain (KIND)							137.0	110.0	119.0					10																	135011179		2203	4300	6503	SO:0001630	splice_region_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135011179G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1813-1G>T	10.37:g.135011179G>T						KNDC1_uc001lma.1_Missense_Mutation_p.V540L|KNDC1_uc001lmb.1_Missense_Mutation_p.V17L	p.V605L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	12	1814	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	605			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1813G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325438	0.60743	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11063	2.81;2.81;2.81	3.57	3.57	0.40892	KIND (2);	0.214766	0.30510	N	0.009479	T	0.21962	0.0529	L	0.51422	1.61	0.36469	D	0.867156	D;D;P	0.71674	0.998;0.982;0.915	D;P;P	0.63957	0.92;0.681;0.838	T	0.07309	-1.0779	9	.	.	.	-14.0697	11.3898	0.49806	0.0:0.0:1.0:0.0	.	605;540;605	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	L	605;605;540	ENSP00000304437:V605L;ENSP00000357561:V605L;ENSP00000357560:V540L	.	V	+	1	0	KNDC1	134861169	1.000000	0.71417	0.694000	0.30210	0.498000	0.33706	4.501000	0.60393	1.968000	0.57251	0.305000	0.20034	GTG		PASS	0.677	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation	27	155	27	155	---	---	---	---
TH	7054	broad.mit.edu	37	11	2185535	2185535	+	Silent	SNP	G	G	T	rs375735482		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:2185535G>T	ENST00000381178.1	-	14	1533	c.1515C>A	c.(1513-1515)gcC>gcA	p.A505A	INS_ENST00000381330.4_5'Flank|TH_ENST00000381175.1_Silent_p.A501A|TH_ENST00000333684.5_Silent_p.A384A|TH_ENST00000352909.3_Silent_p.A474A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	505					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)	p.A505A(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	AGCGCCGCACGGCCTGGGGGC	0.672																																						uc001lvq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1513-1515)GCC>GCA		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						57.0	51.0	53.0					11																	2185535		2201	4297	6498	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2185535G>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1515C>A	11.37:g.2185535G>T						TH_uc001lvp.2_Silent_p.A501A|TH_uc001lvr.2_Silent_p.A474A|TH_uc010qxj.1_Silent_p.A478A|TH_uc001lvs.2_Silent_p.A380A|TH_uc001lvt.2_Silent_p.A384A	p.A505A	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	14	1534	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	505					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.1515C>A	CCDS7731.1																																																																																				PASS	0.672	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		15	38	15	38	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153746	5153746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:5153746C>A	ENST00000307388.1	-	1	126	c.127G>T	c.(127-129)Gga>Tga	p.G43*		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	43					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.G43R(1)|p.G43*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGGAATTTCCAATCACACCA	0.403																																						uc010qyx.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.G43E(1)	lung(2)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(127-129)GGA>TGA		olfactory receptor, family 52, subfamily A,							70.0	71.0	71.0					11																	5153746		2201	4298	6499	SO:0001587	stop_gained	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153746C>A	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.127G>T	11.37:g.5153746C>A	ENSP00000303469:p.Gly43*						p.G43*	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	127	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	43			Helical; Name=1; (Potential).			Nonsense_Mutation	SNP	ENST00000307388.1	37	c.127G>T	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906939	0.52333	.	.	ENSG00000171944	ENST00000307388	.	.	.	5.21	5.21	0.72293	.	0.000000	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4955	0.87716	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000303469:G43X	G	-	1	0	OR52A5	5110322	0.009000	0.17119	0.967000	0.41034	0.060000	0.15804	2.097000	0.41748	2.702000	0.92279	0.650000	0.86243	GGA		PASS	0.403	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		30	121	30	121	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17132046	17132046	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:17132046G>C	ENST00000265970.7	-	21	3476	c.3477C>G	c.(3475-3477)atC>atG	p.I1159M	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.I779M|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1159	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.I1159M(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTTTAAGCCAGATCTTATCCA	0.358																																						uc001mmq.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(3475-3477)ATC>ATG		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						168.0	156.0	160.0					11																	17132046		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17132046G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3477C>G	11.37:g.17132046G>C	ENSP00000265970:p.Ile1159Met					PIK3C2A_uc009ygu.1_Translation_Start_Site|PIK3C2A_uc010rcw.1_Missense_Mutation_p.I779M|PIK3C2A_uc001mmr.3_Intron	p.I1159M	NM_002645	NP_002636	O00443	P3C2A_HUMAN			21	3543	-			1159			PI3K/PI4K.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.3477C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310169	0.40895	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.77358	-1.09;-1.09	5.35	1.16	0.20824	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.097208	0.64402	D	0.000001	T	0.73140	0.3549	L	0.35288	1.05	0.54753	D	0.999981	D	0.58268	0.982	P	0.60473	0.875	T	0.67348	-0.5693	10	0.39692	T	0.17	-9.8999	2.4413	0.04495	0.1376:0.1223:0.3626:0.3774	.	1159	O00443	P3C2A_HUMAN	M	1159;779	ENSP00000265970:I1159M;ENSP00000438687:I779M	ENSP00000265970:I1159M	I	-	3	3	PIK3C2A	17088622	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.408000	0.34668	-0.040000	0.13580	-0.142000	0.14014	ATC		PASS	0.358	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		17	176	17	176	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18956325	18956325	+	Missense_Mutation	SNP	G	G	T	rs373745541		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:18956325G>T	ENST00000302797.3	-	1	231	c.7C>A	c.(7-9)Cca>Aca	p.P3T	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	3					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P3T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGATGGTTGGATCCATGCTC	0.512																																						uc001mpg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(7-9)CCA>ACA		MAS-related GPR, member X1							252.0	239.0	244.0					11																	18956325		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956325G>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.7C>A	11.37:g.18956325G>T	ENSP00000305766:p.Pro3Thr						p.P3T	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	225	-			3			Extracellular (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.7C>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	8.740	0.918689	0.17982	.	.	ENSG00000170255	ENST00000302797	T	0.19532	2.14	2.43	0.402	0.16344	.	0.341711	0.25261	N	0.031956	T	0.17831	0.0428	M	0.62723	1.935	0.09310	N	1	B	0.18310	0.027	B	0.18263	0.021	T	0.16600	-1.0397	10	0.41790	T	0.15	.	5.0919	0.14713	0.138:0.2164:0.6456:0.0	.	3	Q96LB2	MRGX1_HUMAN	T	3	ENSP00000305766:P3T	ENSP00000305766:P3T	P	-	1	0	MRGPRX1	18912901	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	-0.575000	0.05861	0.102000	0.17638	0.491000	0.48974	CCA		PASS	0.512	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		101	501	101	501	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22363311	22363311	+	Silent	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:22363311C>G	ENST00000263160.3	+	2	761	c.324C>G	c.(322-324)ggC>ggG	p.G108G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	108					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.G108G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACCGCGGGGGCAAGGTCATCA	0.632																																						uc001mqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(322-324)GGC>GGG		solute carrier family 17 (sodium-dependent							62.0	52.0	56.0					11																	22363311		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363311C>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.324C>G	11.37:g.22363311C>G							p.G108G	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			2	737	+			108			Vesicular (Potential).		A6NKS2	Silent	SNP	ENST00000263160.3	37	c.324C>G	CCDS7856.1																																																																																				PASS	0.632	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		12	69	12	69	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33682446	33682446	+	Silent	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:33682446C>A	ENST00000321505.4	+	19	5334	c.5154C>A	c.(5152-5154)gcC>gcA	p.A1718A	KIAA1549L_ENST00000389726.3_Silent_p.A1724A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1718						integral component of membrane (GO:0016021)		p.A1718A(1)									TCCCAGCTGCCAACAGACCTG	0.582																																						uc001mup.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(5170-5172)GCC>GCA		hypothetical protein LOC25758							56.0	59.0	58.0					11																	33682446		2024	4183	6207	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33682446C>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5154C>A	11.37:g.33682446C>A							p.A1724A	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			19	5296	+			1718					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.5172C>A	CCDS44565.2																																																																																				PASS	0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		12	36	12	36	---	---	---	---
CD44	960	broad.mit.edu	37	11	35227749	35227749	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:35227749C>G	ENST00000428726.2	+	11	1496	c.1373C>G	c.(1372-1374)tCa>tGa	p.S458*	CD44_ENST00000449691.2_Nonsense_Mutation_p.S415*|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S458*|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Nonsense_Mutation_p.S415*|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S459*|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	458	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.S458*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AACCCAATCTCACACCCCATG	0.468																																						uc001mvu.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1372-1374)TCA>TGA		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						212.0	177.0	188.0					11																	35227749		2202	4298	6500	SO:0001587	stop_gained	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227749C>G	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1373C>G	11.37:g.35227749C>G	ENSP00000398632:p.Ser458*					CD44_uc001mvv.2_Nonsense_Mutation_p.S415*|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Nonsense_Mutation_p.S22*|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	p.S458*	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		11	1807	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	458			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	ENST00000428726.2	37	c.1373C>G	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911860	0.72983	.	.	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110	.	.	.	4.76	4.76	0.60689	.	0.265847	0.27455	N	0.019288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.1203	13.4769	0.61314	0.0:1.0:0.0:0.0	.	.	.	.	X	415;459;415;458;458;232;170	.	ENSP00000389830:S415X	S	+	2	0	CD44	35184325	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	3.303000	0.51858	2.625000	0.88918	0.655000	0.94253	TCA		PASS	0.468	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		4	260	4	260	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45268004	45268004	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:45268004G>A	ENST00000020926.3	-	5	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	302	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.N302N(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCAGGAGGCGGTTGGCAGCCG	0.572																																						uc001myq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(904-906)AAC>AAT		synaptotagmin XIII							68.0	66.0	67.0					11																	45268004		2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45268004G>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.906C>T	11.37:g.45268004G>A						SYT13_uc009yku.1_Silent_p.N158N	p.N302N	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			5	1032	-			302			C2 2.|Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.906C>T	CCDS31470.1																																																																																				PASS	0.572	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		31	89	31	89	---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671891	45671891	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:45671891C>T	ENST00000308064.2	-	4	1253	c.583G>A	c.(583-585)Gag>Aag	p.E195K	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	195					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.E195K(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGCACGCCTCGGCCGCCACG	0.697																																						uc001mys.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|pancreas(1)	5						c.(583-585)GAG>AAG		carbohydrate (keratan sulfate Gal-6)							24.0	24.0	24.0					11																	45671891		2199	4285	6484	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671891C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.583G>A	11.37:g.45671891C>T	ENSP00000309270:p.Glu195Lys						p.E195K	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1254	-			195			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.583G>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845027	0.32606	.	.	ENSG00000175264	ENST00000308064	T	0.80824	-1.42	4.98	4.98	0.66077	Sulfotransferase domain (1);	0.051797	0.85682	N	0.000000	T	0.72137	0.3423	L	0.35542	1.07	0.54753	D	0.999988	B	0.25169	0.119	B	0.18871	0.023	T	0.67440	-0.5670	10	0.21014	T	0.42	-0.1511	18.2637	0.90044	0.0:1.0:0.0:0.0	.	195	O43916	CHST1_HUMAN	K	195	ENSP00000309270:E195K	ENSP00000309270:E195K	E	-	1	0	CHST1	45628467	1.000000	0.71417	0.981000	0.43875	0.319000	0.28217	6.017000	0.70805	2.310000	0.77875	0.462000	0.41574	GAG		PASS	0.697	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		10	57	10	57	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49175955	49175955	+	Silent	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:49175955T>C	ENST00000256999.2	-	16	1973	c.1713A>G	c.(1711-1713)aaA>aaG	p.K571K	FOLH1_ENST00000533034.1_Silent_p.K556K|FOLH1_ENST00000356696.3_Silent_p.K571K|FOLH1_ENST00000340334.7_Silent_p.K556K|FOLH1_ENST00000343844.4_Silent_p.K263K	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	571	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.K571K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGAGGTGATATTTAAACATTG	0.398																																						uc001ngy.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1711-1713)AAA>AAG		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						57.0	51.0	53.0					11																	49175955		2200	4278	6478	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175955T>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1713A>G	11.37:g.49175955T>C						FOLH1_uc001ngx.2_Silent_p.K3K|FOLH1_uc001ngz.2_Silent_p.K571K|FOLH1_uc009yly.2_Silent_p.K556K|FOLH1_uc009ylz.2_Silent_p.K556K|FOLH1_uc009yma.2_Silent_p.K263K	p.K571K	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			16	1974	-			571			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1713A>G	CCDS7946.1																																																																																				PASS	0.398	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		4	134	4	134	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515878	51515878	+	Silent	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:51515878C>G	ENST00000328188.1	+	1	597	c.597C>G	c.(595-597)gcC>gcG	p.A199A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A199A(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCATTGCTGCCAACAGTGGAT	0.483																																						uc010ric.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(595-597)GCC>GCG		olfactory receptor, family 4, subfamily C,							132.0	115.0	121.0					11																	51515878		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515878C>G		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.597C>G	11.37:g.51515878C>G							p.A199A	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	597	+			199			Extracellular (Potential).			Silent	SNP	ENST00000328188.1	37	c.597C>G	CCDS31498.1																																																																																				PASS	0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		28	187	28	187	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406513	55406513	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:55406513C>T	ENST00000314612.2	+	1	680	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S227F(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AGAGCATACTCTGCAGAGAGA	0.393																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(679-681)TCT>TTT		olfactory receptor, family 4, subfamily P,							178.0	126.0	144.0					11																	55406513		2181	4026	6207	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406513C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.680C>T	11.37:g.55406513C>T	ENSP00000324831:p.Ser227Phe						p.S227F	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	680	+			227			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.680C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711093	0.30322	.	.	ENSG00000181927	ENST00000314612	T	0.00340	8.04	5.51	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.809565	0.10453	N	0.672817	T	0.00936	0.0031	M	0.91920	3.255	0.09310	N	1	P	0.38767	0.646	P	0.55871	0.786	T	0.22556	-1.0213	10	0.87932	D	0	-3.3875	8.8247	0.35047	0.1492:0.7716:0.0:0.0792	.	227	Q8NGL7	OR4P4_HUMAN	F	227	ENSP00000324831:S227F	ENSP00000324831:S227F	S	+	2	0	OR4P4	55163089	0.012000	0.17670	0.002000	0.10522	0.019000	0.09904	1.469000	0.35343	0.677000	0.31305	0.637000	0.83480	TCT		PASS	0.393	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		47	170	47	170	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59210840	59210840	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:59210840A>C	ENST00000302030.2	+	1	224	c.199A>C	c.(199-201)Agc>Cgc	p.S67R		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTTCTTCCTAAGCAACTTATC	0.488																																						uc001nnx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(199-201)AGC>CGC		olfactory receptor, family 5, subfamily A,							154.0	149.0	151.0					11																	59210840		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210840A>C	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.199A>C	11.37:g.59210840A>C	ENSP00000303096:p.Ser67Arg						p.S67R	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	199	+			67			Helical; Name=2; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.199A>C	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255851	0.39896	.	.	ENSG00000172320	ENST00000302030	T	0.01099	5.34	5.76	0.823	0.18812	GPCR, rhodopsin-like superfamily (1);	0.090500	0.48286	D	0.000185	T	0.01287	0.0042	L	0.48986	1.54	0.34153	D	0.66773	B	0.15473	0.013	B	0.17979	0.02	T	0.41034	-0.9531	10	0.72032	D	0.01	-3.8132	3.8783	0.09066	0.5503:0.0:0.209:0.2408	.	67	Q8NGJ0	OR5A1_HUMAN	R	67	ENSP00000303096:S67R	ENSP00000303096:S67R	S	+	1	0	OR5A1	58967416	0.000000	0.05858	0.956000	0.39512	0.967000	0.64934	-0.086000	0.11233	-0.103000	0.12175	0.528000	0.53228	AGC		PASS	0.488	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		34	320	34	320	---	---	---	---
RAB3IL1	5866	broad.mit.edu	37	11	61672049	61672049	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:61672049T>G	ENST00000394836.2	-	7	1025	c.868A>C	c.(868-870)Aag>Cag	p.K290Q	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.K264Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	290					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K290Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TCGGCCACCTTCACTGTGGGC	0.622																																						uc001nso.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(868-870)AAG>CAG		RAB3A interacting protein (rabin3)-like 1							89.0	67.0	74.0					11																	61672049		2202	4299	6501	SO:0001583	missense	5866						protein binding	g.chr11:61672049T>G	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.868A>C	11.37:g.61672049T>G	ENSP00000378313:p.Lys290Gln					RAB3IL1_uc001nsp.2_Missense_Mutation_p.K264Q	p.K290Q	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			7	1026	-			290					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.868A>C	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875819	0.91664	.	.	ENSG00000167994	ENST00000394836;ENST00000301773	T;T	0.49720	0.77;0.77	4.82	3.66	0.41972	.	0.207579	0.49305	D	0.000143	T	0.62295	0.2416	M	0.83692	2.655	0.37560	D	0.919028	D;P	0.56035	0.974;0.883	P;B	0.54590	0.756;0.444	T	0.70981	-0.4724	10	0.66056	D	0.02	-8.6065	11.0304	0.47769	0.1399:0.0:0.0:0.8601	.	264;290	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	Q	290;264	ENSP00000378313:K290Q;ENSP00000301773:K264Q	ENSP00000301773:K264Q	K	-	1	0	RAB3IL1	61428625	1.000000	0.71417	0.063000	0.19743	0.498000	0.33706	5.973000	0.70456	0.892000	0.36259	0.379000	0.24179	AAG		PASS	0.622	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		5	26	5	26	---	---	---	---
PHOX2A	401	broad.mit.edu	37	11	71952160	71952160	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:71952160C>T	ENST00000298231.5	-	2	562	c.391G>A	c.(391-393)Gag>Aag	p.E131K	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	131					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E131K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						ACGCGAGCCTCAGTGAGGTCG	0.592																																						uc001osh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)GAG>AAG		paired-like homeobox 2a							76.0	57.0	63.0					11																	71952160		2200	4293	6493	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71952160C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.391G>A	11.37:g.71952160C>T	ENSP00000298231:p.Glu131Lys						p.E131K	NM_005169	NP_005160	O14813	PHX2A_HUMAN			2	563	-			131			Homeobox.		A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.391G>A	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	N	36	5.759628	0.96898	.	.	ENSG00000165462	ENST00000298231	D	0.96802	-4.13	4.54	4.54	0.55810	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.288146	0.24828	N	0.035275	D	0.98492	0.9497	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99719	1.1009	10	0.87932	D	0	.	16.0792	0.80989	0.0:1.0:0.0:0.0	.	131	O14813	PHX2A_HUMAN	K	131	ENSP00000298231:E131K	ENSP00000298231:E131K	E	-	1	0	PHOX2A	71629808	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	7.549000	0.82163	2.351000	0.79841	0.456000	0.33151	GAG		PASS	0.592	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		11	66	11	66	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88583186	88583186	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:88583186G>C	ENST00000305447.4	-	2	948	c.799C>G	c.(799-801)Cac>Gac	p.H267D	GRM5_ENST00000393297.1_Missense_Mutation_p.H267D|GRM5_ENST00000305432.5_Missense_Mutation_p.H267D|GRM5_ENST00000418177.2_Missense_Mutation_p.H267D|GRM5_ENST00000455756.2_Missense_Mutation_p.H267D	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	267					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.H267D(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTGGGCAAGTGACTTGTGAGC	0.542																																						uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(799-801)CAC>GAC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						48.0	48.0	48.0					11																	88583186		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88583186G>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.799C>G	11.37:g.88583186G>C	ENSP00000306138:p.His267Asp					GRM5_uc009yvm.2_Missense_Mutation_p.H267D	p.H267D	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			2	999	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	267			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.799C>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534375	0.64972	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87809	-2.26;-2.26;-2.26;-2.26;-2.3	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	N	0.25647	0.755	0.58432	D	0.999998	P;D	0.69078	0.898;0.997	P;D	0.80764	0.453;0.994	D	0.88117	0.2829	9	.	.	.	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	267;267	P41594-2;P41594	.;GRM5_HUMAN	D	267	ENSP00000402912:H267D;ENSP00000405690:H267D;ENSP00000305905:H267D;ENSP00000306138:H267D;ENSP00000376975:H267D	.	H	-	1	0	GRM5	88222834	1.000000	0.71417	0.856000	0.33681	0.628000	0.37860	7.208000	0.77907	2.528000	0.85240	0.563000	0.77884	CAC		PASS	0.542	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		39	70	39	70	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89135615	89135615	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:89135615T>A	ENST00000263317.4	-	9	963	c.725A>T	c.(724-726)tAt>tTt	p.Y242F	NOX4_ENST00000343727.5_Missense_Mutation_p.Y218F|NOX4_ENST00000527626.1_Missense_Mutation_p.Y76F|NOX4_ENST00000413594.2_Missense_Mutation_p.Y263F|NOX4_ENST00000527956.1_Missense_Mutation_p.Y218F|NOX4_ENST00000535633.1_Missense_Mutation_p.Y218F|NOX4_ENST00000528341.1_Missense_Mutation_p.Y217F|NOX4_ENST00000534731.1_Missense_Mutation_p.Y242F|NOX4_ENST00000424319.1_Missense_Mutation_p.Y218F|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.Y218F|NOX4_ENST00000542487.1_Missense_Mutation_p.Y218F|NOX4_ENST00000531342.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	242	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.Y242F(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTCTGAGAAATACTCTGGTAA	0.423																																						uc001pct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(724-726)TAT>TTT		NADPH oxidase 4 isoform a							97.0	108.0	104.0					11																	89135615		2201	4298	6499	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89135615T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.725A>T	11.37:g.89135615T>A	ENSP00000263317:p.Tyr242Phe					NOX4_uc009yvr.2_Missense_Mutation_p.Y217F|NOX4_uc001pcu.2_Missense_Mutation_p.Y168F|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.Y242F|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.Y76F|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.Y218F|NOX4_uc009yvq.2_Missense_Mutation_p.Y218F|NOX4_uc009yvs.1_RNA	p.Y242F	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			9	964	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	242			Extracellular (Potential).|Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.725A>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	5.831	0.337546	0.11013	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.95103	-3.55;-3.55;-3.55;-3.52;-3.47;-3.61;-3.55;-3.55;-3.28;-3.52;-3.58	4.76	4.76	0.60689	.	0.976842	0.08413	N	0.949521	D	0.90868	0.7131	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.22746	0.022;0.012;0.074;0.004;0.009	B;B;B;B;B	0.20384	0.013;0.013;0.021;0.029;0.013	T	0.80616	-0.1303	9	.	.	.	-0.8308	10.9118	0.47114	0.0:0.0:0.2817:0.7182	.	218;76;217;242;242	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	F	218;218;218;242;242;218;218;218;76;217;263	ENSP00000412446:Y218F;ENSP00000440172:Y218F;ENSP00000344747:Y218F;ENSP00000436892:Y242F;ENSP00000263317:Y242F;ENSP00000434924:Y218F;ENSP00000433797:Y218F;ENSP00000439373:Y218F;ENSP00000436093:Y76F;ENSP00000436970:Y217F;ENSP00000405705:Y263F	.	Y	-	2	0	NOX4	88775263	0.000000	0.05858	0.022000	0.16811	0.849000	0.48306	0.267000	0.18552	1.907000	0.55213	0.383000	0.25322	TAT		PASS	0.423	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		38	258	38	258	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117265653	117265653	+	Silent	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:117265653T>C	ENST00000278935.3	+	22	2925	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	926	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.D926D(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCTCCAGGATTTAGAGTTGG	0.517																																						uc001prc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2776-2778)GAT>GAC		centrosomal protein 164kDa							174.0	176.0	175.0					11																	117265653		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117265653T>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2778T>C	11.37:g.117265653T>C						CEP164_uc001prb.2_Silent_p.D929D|CEP164_uc010rxk.1_Silent_p.D900D|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.D359D	p.D926D	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	22	2925	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	926			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.2778T>C	CCDS31683.1																																																																																				PASS	0.517	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		58	318	58	318	---	---	---	---
FEZ1	9638	broad.mit.edu	37	11	125359634	125359634	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:125359634C>T	ENST00000278919.3	-	2	274	c.40G>A	c.(40-42)Gac>Aac	p.D14N	FEZ1_ENST00000366139.3_Missense_Mutation_p.D14N|FEZ1_ENST00000524435.1_Missense_Mutation_p.D14N	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	14					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.D14N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GGTCGAAGGTCCTCAAACTCT	0.532																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(40-42)GAC>AAC		zygin 1 isoform 1							67.0	71.0	70.0					11																	125359634		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359634C>T	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.40G>A	11.37:g.125359634C>T	ENSP00000278919:p.Asp14Asn					FEZ1_uc010sbc.1_Missense_Mutation_p.D14N|FEZ1_uc001qby.1_Missense_Mutation_p.D14N	p.D14N	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	192	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	14					O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.40G>A	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	36	5.641331	0.96704	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	T	0.38401	1.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.50482	-0.8823	10	0.56958	D	0.05	-1.1791	19.2535	0.93935	0.0:1.0:0.0:0.0	.	14;14	B4DKG5;Q99689	.;FEZ1_HUMAN	N	14	ENSP00000278919:D14N	ENSP00000278919:D14N	D	-	1	0	FEZ1	124864844	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.339000	0.79282	2.646000	0.89796	0.655000	0.94253	GAC		PASS	0.532	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		14	125	14	125	---	---	---	---
DCPS	28960	broad.mit.edu	37	11	126208221	126208221	+	Missense_Mutation	SNP	G	G	A	rs140993180		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr11:126208221G>A	ENST00000263579.4	+	4	892	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	DCPS_ENST00000530860.1_Intron	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	188					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)	p.R188Q(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GAAGCGGACCGGATTGTTTTC	0.502																																						uc001qdp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)CGG>CAG		mRNA decapping enzyme		G	GLN/ARG	0,4402		0,0,2201	160.0	136.0	144.0		563	4.9	1.0	11	dbSNP_134	144	1,8595	1.2+/-3.3	0,1,4297	no	missense	DCPS	NM_014026.3	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	188/338	126208221	1,12997	2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126208221G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.563G>A	11.37:g.126208221G>A	ENSP00000263579:p.Arg188Gln						p.R188Q	NM_014026	NP_054745	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	4	892	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	188					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.563G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005146	0.93287	0.0	1.16E-4	ENSG00000110063	ENST00000263579	D	0.95788	-3.81	4.88	4.88	0.63580	Histidine triad-like motif (1);	0.107337	0.64402	D	0.000005	D	0.97971	0.9332	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98753	1.0721	10	0.72032	D	0.01	-12.4094	18.2224	0.89905	0.0:0.0:1.0:0.0	.	188	Q96C86	DCPS_HUMAN	Q	188	ENSP00000263579:R188Q	ENSP00000263579:R188Q	R	+	2	0	DCPS	125713431	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.396000	0.79891	2.537000	0.85549	0.655000	0.94253	CGG		PASS	0.502	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		13	81	13	81	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	977437	977437	+	Intron	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:977437G>T	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.A148S|WNK1_ENST00000530271.2_Missense_Mutation_p.A934S|WNK1_ENST00000537687.1_Missense_Mutation_p.A849S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.A849S(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCTCAGGAAGCAGTGTATGT	0.443																																					Colon(19;451 567 6672 12618 28860)	uc001qiq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GCA>TCA		hereditary sensory neuropathy, type II							45.0	44.0	45.0					12																	977437		1913	4128	6041	SO:0001627	intron_variant	378465							g.chr12:977437G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2994G>T	12.37:g.977437G>T						WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.A148S	NM_213655	NP_998820			OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)		1	568	+	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)							A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.442G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	7.067	0.567479	0.13560	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.15139	2.45;2.45	4.72	0.957	0.19613	.	.	.	.	.	T	0.10852	0.0265	.	.	.	0.80722	D	1	P	0.35575	0.51	B	0.34536	0.185	T	0.21930	-1.0231	8	0.22109	T	0.4	.	9.6736	0.40028	0.3217:0.0:0.6783:0.0	.	934	F5H2M7	.	S	849;934	ENSP00000444465:A849S;ENSP00000433548:A934S	ENSP00000433548:A934S	A	+	1	0	WNK1	847698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.523000	0.45580	0.349000	0.23975	0.467000	0.42956	GCA		PASS	0.443	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		20	17	20	17	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2797827	2797827	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:2797827C>A	ENST00000347598.4	+	48	6143	c.6143C>A	c.(6142-6144)cCc>cAc	p.P2048H	CACNA1C_ENST00000406454.3_Missense_Mutation_p.P2071H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P2041H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P2025H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P2008H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P2000H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P2035H|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399655.1_Missense_Mutation_p.P2000H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P2020H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P2019H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P2035H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P2000H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P2006H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P2000H|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P2017H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P2019H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P2071H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P2008H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P2019H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P2028H|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P2000H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P2000H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2083					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P2048H(1)|p.P2035H(1)|p.P2113H(1)|p.P1535H(1)|p.P2041H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGACCACCCCCGGTGGCGGG	0.711																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(6247-6249)CCC>CAC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						28.0	34.0	32.0					12																	2797827		1909	4113	6022	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797827C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6143C>A	12.37:g.2797827C>A	ENSP00000266376:p.Pro2048His					CACNA1C_uc009zdv.1_Missense_Mutation_p.P1997H|CACNA1C_uc001qkb.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkc.2_Missense_Mutation_p.P2019H|CACNA1C_uc001qke.2_Missense_Mutation_p.P1989H|CACNA1C_uc001qkf.2_Missense_Mutation_p.P2008H|CACNA1C_uc001qjz.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkd.2_Missense_Mutation_p.P2019H|CACNA1C_uc001qkg.2_Missense_Mutation_p.P2006H|CACNA1C_uc009zdw.1_Missense_Mutation_p.P2041H|CACNA1C_uc001qkh.2_Missense_Mutation_p.P2008H|CACNA1C_uc001qkl.2_Missense_Mutation_p.P2048H|CACNA1C_uc001qkn.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qko.2_Missense_Mutation_p.P2020H|CACNA1C_uc001qkp.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkr.2_Missense_Mutation_p.P2017H|CACNA1C_uc001qku.2_Missense_Mutation_p.P2035H|CACNA1C_uc001qkq.2_Missense_Mutation_p.P2028H|CACNA1C_uc001qks.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkt.2_Missense_Mutation_p.P2019H|CACNA1C_uc001qki.1_Missense_Mutation_p.P1807H|CACNA1C_uc001qkj.1_Missense_Mutation_p.P1771H|CACNA1C_uc001qkk.1_Missense_Mutation_p.P1736H|CACNA1C_uc001qkm.1_Missense_Mutation_p.P1796H|CACNA1C_uc010sea.1_Missense_Mutation_p.P691H|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.P318H	p.P2083H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	49	6561	+			2083			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6248C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	4.365	0.067206	0.08388	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	4.69	0.421	0.16451	.	0.624751	0.14599	N	0.309761	T	0.49098	0.1537	L	0.34521	1.04	0.09310	N	1	B;P;B;P;P;P;B;P;B;B;B;B;B;P;B;B;B;B;P;B;B;P;P;B;B	0.46952	0.356;0.489;0.25;0.529;0.887;0.482;0.164;0.887;0.001;0.0;0.298;0.071;0.036;0.54;0.07;0.232;0.036;0.072;0.783;0.143;0.429;0.676;0.482;0.164;0.115	B;B;B;B;P;B;B;P;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	0.51742	0.227;0.421;0.14;0.345;0.678;0.404;0.063;0.678;0.006;0.001;0.199;0.043;0.087;0.58;0.031;0.229;0.087;0.16;0.435;0.126;0.198;0.416;0.26;0.063;0.099	T	0.40572	-0.9556	10	0.87932	D	0	.	1.8472	0.03161	0.3361:0.3676:0.1884:0.1078	.	691;2041;1997;2083;2035;2019;2000;2017;2028;2000;2020;2000;2031;2048;2000;2035;2071;2008;2006;2008;1989;2019;2019;2000;2000	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	2025;2000;2000;2028;2000;2019;2019;2008;2000;2048;2020;2000;2041;2017;2035;2006;2019;2000;2071;2035;2071;2008;1901	ENSP00000336982:P2025H;ENSP00000382563:P2000H;ENSP00000382552:P2000H;ENSP00000382547:P2028H;ENSP00000382506:P2000H;ENSP00000382530:P2019H;ENSP00000382546:P2019H;ENSP00000382500:P2008H;ENSP00000382549:P2000H;ENSP00000266376:P2048H;ENSP00000382515:P2020H;ENSP00000382510:P2000H;ENSP00000341092:P2041H;ENSP00000382537:P2017H;ENSP00000329877:P2035H;ENSP00000382557:P2006H;ENSP00000385724:P2019H;ENSP00000382512:P2000H;ENSP00000382542:P2071H;ENSP00000382526:P2035H;ENSP00000385896:P2071H;ENSP00000382504:P2008H	ENSP00000323129:P1901H	P	+	2	0	CACNA1C	2668088	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.489000	0.22387	0.185000	0.20105	0.462000	0.41574	CCC		PASS	0.711	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		19	32	19	32	---	---	---	---
CCND2	894	broad.mit.edu	37	12	4409107	4409107	+	Missense_Mutation	SNP	G	G	C	rs3217921	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:4409107G>C	ENST00000261254.3	+	5	1071	c.802G>C	c.(802-804)Gga>Cga	p.G268R		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	268			G -> R (in dbSNP:rs3217921). {ECO:0000269|Ref.5}.		cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.G268R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CCAACGTGACGGATCCAAGTC	0.567			T	IGL@	"""NHL,CLL"""																																	uc001qmo.2				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(802-804)GGA>CGA		cyclin D2							105.0	83.0	90.0					12																	4409107		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4409107G>C	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.802G>C	12.37:g.4409107G>C	ENSP00000261254:p.Gly268Arg						p.G268R	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		5	1107	+			268					A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.802G>C	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	7.464	0.645259	0.14451	.	.	ENSG00000118971	ENST00000261254	T	0.08193	3.12	4.94	3.99	0.46301	.	0.774326	0.12560	N	0.458245	T	0.06280	0.0162	N	0.16903	0.455	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.475	0.61303	0.0:0.2421:0.7579:0.0	.	268	P30279	CCND2_HUMAN	R	268	ENSP00000261254:G268R	ENSP00000261254:G268R	G	+	1	0	CCND2	4279368	0.969000	0.33509	0.029000	0.17559	0.314000	0.28054	1.768000	0.38511	2.298000	0.77334	0.563000	0.77884	GGA		PASS	0.567	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		6	110	6	110	---	---	---	---
NDUFA9	4704	broad.mit.edu	37	12	4778914	4778914	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:4778914A>T	ENST00000266544.5	+	8	751	c.731A>T	c.(730-732)gAt>gTt	p.D244V	RP11-234B24.6_ENST00000544741.2_Missense_Mutation_p.D3V	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	244					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.D244V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						CAGGTCGTAGATGTATCCAAA	0.338																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)GAT>GTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						120.0	113.0	116.0					12																	4778914		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4778914A>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.731A>T	12.37:g.4778914A>T	ENSP00000266544:p.Asp244Val					NDUFA9_uc010ses.1_Missense_Mutation_p.D25V	p.D244V	NM_005002	NP_004993	Q16795	NDUA9_HUMAN			8	741	+			244					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.731A>T	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670611	0.47781	.	.	ENSG00000139180	ENST00000266544	D	0.94000	-3.33	4.94	4.94	0.65067	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99153	1.0859	10	0.87932	D	0	-5.5369	13.8769	0.63657	1.0:0.0:0.0:0.0	.	244	Q16795	NDUA9_HUMAN	V	244	ENSP00000266544:D244V	ENSP00000266544:D244V	D	+	2	0	NDUFA9	4649175	1.000000	0.71417	0.926000	0.36857	0.036000	0.12997	7.930000	0.87610	1.976000	0.57569	0.533000	0.62120	GAT		PASS	0.338	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		75	173	75	173	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40442010	40442010	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:40442010T>C	ENST00000280871.4	-	2	609	c.559A>G	c.(559-561)Att>Gtt	p.I187V	SLC2A13_ENST00000380858.1_Missense_Mutation_p.I187V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	187					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.I168V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATAGAAGCAATGCCTATAAAA	0.388										HNSCC(50;0.14)																												uc010skm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)ATT>GTT		solute carrier family 2 (facilitated glucose							106.0	102.0	104.0					12																	40442010		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40442010T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.559A>G	12.37:g.40442010T>C	ENSP00000280871:p.Ile187Val	HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Missense_Mutation_p.I187V	p.I187V	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			2	610	-		Lung NSC(34;0.105)|all_lung(34;0.123)	187			Helical; Name=4; (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.559A>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544958	0.27652	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.73789	-0.78;-0.78	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.145043	0.64402	D	0.000008	T	0.58004	0.2092	N	0.20483	0.58	0.46096	D	0.998868	B;B	0.14805	0.001;0.011	B;B	0.21151	0.013;0.033	T	0.53788	-0.8389	10	0.17369	T	0.5	-27.7741	10.5569	0.45123	0.0:0.0808:0.0:0.9192	.	187;187	Q96QE2;E9PE47	MYCT_HUMAN;.	V	187	ENSP00000280871:I187V;ENSP00000370239:I187V	ENSP00000280871:I187V	I	-	1	0	SLC2A13	38728277	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.401000	0.34589	2.156000	0.67533	0.533000	0.62120	ATT		PASS	0.388	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			63	153	63	153	---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53646886	53646886	+	Silent	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:53646886C>A	ENST00000329548.4	+	2	458	c.267C>A	c.(265-267)gtC>gtA	p.V89V	MFSD5_ENST00000534842.1_Silent_p.V196V	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	89					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V89V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTCTACAGTCCTCTTTGGCC	0.498																																						uc001sci.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(265-267)GTC>GTA		major facilitator superfamily domain containing							265.0	270.0	268.0					12																	53646886		2203	4300	6503	SO:0001819	synonymous_variant	84975				transport	integral to membrane		g.chr12:53646886C>A	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.267C>A	12.37:g.53646886C>A						MFSD5_uc001sch.1_Silent_p.V196V	p.V89V	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN			2	458	+			89			Helical; (Potential).		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	c.267C>A	CCDS8851.1																																																																																				PASS	0.498	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		66	501	66	501	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53708616	53708616	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:53708616C>A	ENST00000209873.4	-	6	629	c.464G>T	c.(463-465)cGt>cTt	p.R155L	AAAS_ENST00000394384.3_Intron|AAAS_ENST00000550286.1_Missense_Mutation_p.R31L|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	155					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.R155L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TGCAAAGACACGCAAGCAGCA	0.527																																						uc001scr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM055898|CM065946	AAAS	M		c.(463-465)CGT>CTT		achalasia, adrenocortical insufficiency,							78.0	59.0	65.0					12																	53708616		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53708616C>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.464G>T	12.37:g.53708616C>A	ENSP00000209873:p.Arg155Leu					AAAS_uc001scs.3_Intron	p.R155L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			6	627	-			155			WD 1.		Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.464G>T	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039411	0.93630	.	.	ENSG00000094914	ENST00000209873;ENST00000550286	D;D	0.95788	-3.81;-3.81	4.76	4.76	0.60689	WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96589	0.9436	10	0.46703	T	0.11	-22.9576	15.6826	0.77385	0.0:1.0:0.0:0.0	.	155	Q9NRG9	AAAS_HUMAN	L	155;31	ENSP00000209873:R155L;ENSP00000446885:R31L	ENSP00000209873:R155L	R	-	2	0	AAAS	51994883	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.149000	0.77396	2.643000	0.89663	0.557000	0.71058	CGT		PASS	0.527	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			11	35	11	35	---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715175	55715175	+	Silent	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:55715175T>C	ENST00000379668.2	+	1	830	c.792T>C	c.(790-792)gaT>gaC	p.D264D		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D264D(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CAGCAAAAGATAGAGTGTCCT	0.438																																						uc010spi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(790-792)GAT>GAC		olfactory receptor, family 6, subfamily C,							132.0	124.0	126.0					12																	55715175		2203	4300	6503	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715175T>C	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.792T>C	12.37:g.55715175T>C							p.D264D	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	792	+			264			Extracellular (Potential).		B2RNM0	Silent	SNP	ENST00000379668.2	37	c.792T>C	CCDS31818.1																																																																																				PASS	0.438	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		35	184	35	184	---	---	---	---
MDM1	56890	broad.mit.edu	37	12	68715378	68715378	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:68715378C>G	ENST00000303145.7	-	6	918	c.832G>C	c.(832-834)Gaa>Caa	p.E278Q	MDM1_ENST00000411698.2_Missense_Mutation_p.E233Q|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	278					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.E278Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		ATCTCTGCTTCCAATTTTAAA	0.313																																						uc001stz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(832-834)GAA>CAA		mouse Mdm1 nuclear protein homolog isoform 1							132.0	132.0	132.0					12																	68715378		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68715378C>G	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.832G>C	12.37:g.68715378C>G	ENSP00000302537:p.Glu278Gln					MDM1_uc010stc.1_Missense_Mutation_p.E233Q|MDM1_uc009zqv.1_5'UTR	p.E278Q	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	6	968	-			278					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.832G>C	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948608	0.53186	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.25085	1.82;1.82;1.82	4.49	4.49	0.54785	.	0.142518	0.45361	D	0.000366	T	0.34279	0.0892	L	0.48877	1.53	0.80722	D	1	D;B	0.55605	0.972;0.314	P;B	0.53912	0.737;0.11	T	0.02015	-1.1229	9	.	.	.	-21.3063	13.3997	0.60876	0.0:1.0:0.0:0.0	.	233;278	E7EPQ3;Q8TC05	.;MDM1_HUMAN	Q	278;233;273	ENSP00000302537:E278Q;ENSP00000391006:E233Q;ENSP00000446000:E273Q	.	E	-	1	0	MDM1	67001645	0.988000	0.35896	1.000000	0.80357	0.572000	0.35998	2.166000	0.42406	2.453000	0.82957	0.561000	0.74099	GAA		PASS	0.313	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		9	65	9	65	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057376	72057376	+	Silent	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:72057376A>G	ENST00000378743.3	-	1	373	c.15T>C	c.(13-15)gaT>gaC	p.D5D	ZFC3H1_ENST00000548100.1_Silent_p.D5D|ZFC3H1_ENST00000549407.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Silent_p.D5D	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	5					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D5D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGGCCGGAGTATCTGCGGTCG	0.602											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(13-15)GAT>GAC		proline/serine-rich coiled-coil 2							63.0	76.0	72.0					12																	72057376		2044	4192	6236	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057376A>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.15T>C	12.37:g.72057376A>G			OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.1_Silent_p.D5D|ZFC3H1_uc001swp.2_Silent_p.D5D|THAP2_uc001swq.2_5'Flank	p.D5D	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	374	-			5					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.15T>C	CCDS41813.1																																																																																				PASS	0.602	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		8	187	8	187	---	---	---	---
PAH	5053	broad.mit.edu	37	12	103237469	103237469	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:103237469A>G	ENST00000553106.1	-	11	1626	c.1154T>C	c.(1153-1155)cTc>cCc	p.L385P	PAH_ENST00000307000.2_Missense_Mutation_p.L380P	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	385					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.L385P(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CACGTAATAGAGGGGCTGGAA	0.527																																						uc001tjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1153-1155)CTG>CCG		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						109.0	103.0	105.0					12																	103237469		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103237469A>G	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1154T>C	12.37:g.103237469A>G	ENSP00000448059:p.Leu385Pro						p.L385P	NM_000277	NP_000268	P00439	PH4H_HUMAN			12	1626	-			385					Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.1154T>C	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967801	0.53507	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99680	-6.38;-6.38	5.34	5.34	0.76211	Aromatic amino acid hydroxylase, C-terminal (4);	0.280060	0.33854	N	0.004499	D	0.99354	0.9773	L	0.60067	1.865	0.80722	D	1	P	0.41313	0.745	P	0.53760	0.734	D	0.98204	1.0469	10	0.72032	D	0.01	-2.019	11.3253	0.49446	0.9266:0.0:0.0734:0.0	.	385	P00439	PH4H_HUMAN	P	385;380	ENSP00000448059:L385P;ENSP00000303500:L380P	ENSP00000303500:L380P	L	-	2	0	PAH	101761599	0.842000	0.29525	0.948000	0.38648	0.276000	0.26787	6.044000	0.71012	2.019000	0.59389	0.482000	0.46254	CTC		PASS	0.527	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			28	100	28	100	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109880040	109880040	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:109880040C>T	ENST00000431443.2	+	26	2633	c.2633C>T	c.(2632-2634)cCg>cTg	p.P878L	MYO1H_ENST00000310903.5_Missense_Mutation_p.P868L	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	878	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P868L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GACATTAATCCGAAAGTGCTT	0.443																																						uc010sxo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)CCG>CTG		SubName: Full=cDNA FLJ54829, moderately similar to Myosin Ic; SubName: Full=Myosin IH, isoform CRA_a;							97.0	91.0	93.0					12																	109880040		1922	4135	6057	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109880040C>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2633C>T	12.37:g.109880040C>T	ENSP00000444076:p.Pro878Leu					MYO1H_uc010sxn.1_Missense_Mutation_p.P868L	p.P59L			Q8N1T3	MYO1H_HUMAN			4	451	+			59					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.176C>T		.	.	.	.	.	.	.	.	.	.	C	14.72	2.621154	0.46736	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.37584	1.19;1.19	5.38	4.48	0.54585	Myosin tail 2 (1);	0.000000	0.49305	D	0.000153	T	0.31796	0.0808	L	0.55834	1.745	0.47994	D	0.99956	D;P	0.55800	0.973;0.911	B;B	0.40285	0.325;0.218	T	0.08146	-1.0736	10	0.23302	T	0.38	.	13.5856	0.61928	0.0:0.9238:0.0:0.0762	.	878;868	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	L	868;878;59	ENSP00000439182:P868L;ENSP00000444076:P878L	ENSP00000439182:P868L	P	+	2	0	MYO1H	108364423	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	2.478000	0.45189	2.520000	0.84964	0.650000	0.86243	CCG		PASS	0.443	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		21	70	21	70	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113539713	113539713	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:113539713G>A	ENST00000261729.5	-	20	2518	c.2203C>T	c.(2203-2205)Ctg>Ttg	p.L735L	RASAL1_ENST00000548055.1_Silent_p.L736L|RASAL1_ENST00000546530.1_Silent_p.L737L|RASAL1_ENST00000446861.3_Silent_p.L707L|RASAL1_ENST00000418411.2_5'Flank			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	735					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.L735L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCCCGCCCCAGGAGCAGCTGC	0.652																																						uc001tum.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(2203-2205)CTG>TTG		RAS protein activator like 1							54.0	48.0	50.0					12																	113539713		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113539713G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2203C>T	12.37:g.113539713G>A						RASAL1_uc010syp.1_Silent_p.L736L|RASAL1_uc001tul.2_Silent_p.L707L|RASAL1_uc001tun.1_Silent_p.L737L	p.L735L	NM_004658	NP_004649	O95294	RASL1_HUMAN			20	2496	-			735					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.2203C>T	CCDS9165.1																																																																																				PASS	0.652	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		10	87	10	87	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758204	113758204	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:113758204T>C	ENST00000552014.1	-	8	1141	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Missense_Mutation_p.Y209C|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	209					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.Y209C(1)									AGCCACCATGTAGAAAACGAT	0.612																																						uc001tvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(625-627)TAC>TGC		solute carrier family 24 member 6 precursor							190.0	192.0	191.0					12																	113758204		2203	4300	6503	SO:0001583	missense	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758204T>C	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.626A>G	12.37:g.113758204T>C	ENSP00000447091:p.Tyr209Cys					SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Intron	p.Y209C	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			7	836	-			209			Helical; Name=4; (Potential).		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.626A>G	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753113	0.69648	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000549181	T;T;T	0.63744	-0.06;-0.06;-0.06	4.47	4.47	0.54385	Sodium/calcium exchanger membrane region (1);	0.000000	0.64402	D	0.000002	D	0.82440	0.5037	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86713	0.1937	10	0.87932	D	0	.	13.7693	0.63015	0.0:0.0:0.0:1.0	.	209	Q6J4K2	NCKX6_HUMAN	C	209	ENSP00000447091:Y209C;ENSP00000202831:Y209C;ENSP00000448703:Y209C	ENSP00000202831:Y209C	Y	-	2	0	SLC24A6	112242587	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.580000	0.82523	1.658000	0.50742	0.379000	0.24179	TAC		PASS	0.612	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		23	448	23	448	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117718548	117718548	+	Silent	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:117718548G>T	ENST00000338101.4	-	7	1510	c.1506C>A	c.(1504-1506)gcC>gcA	p.A502A	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.A502A			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.A502A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACTGCACATTGGCTGGGTCCC	0.597																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(1504-1506)GCC>GCA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						51.0	60.0	57.0					12																	117718548		2003	4179	6182	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117718548G>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1506C>A	12.37:g.117718548G>T							p.A502A	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	8	2192	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		502						Silent	SNP	ENST00000338101.4	37	c.1506C>A	CCDS55890.1																																																																																				PASS	0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			32	99	32	99	---	---	---	---
HCAR1	27198	broad.mit.edu	37	12	123214157	123214157	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:123214157G>A	ENST00000436083.2	-	1	1233	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	HCAR1_ENST00000432564.1_Missense_Mutation_p.L244F|HCAR1_ENST00000356987.2_Missense_Mutation_p.L244F			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	244					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L244F(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ACCGTCCAGAGGAAATAGAGT	0.567																																						uc001ucz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)CTC>TTC		G protein-coupled receptor 81							68.0	64.0	65.0					12																	123214157		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214157G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.730C>T	12.37:g.123214157G>A	ENSP00000409980:p.Leu244Phe					GPR81_uc001ucw.1_RNA	p.L244F	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	973	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		244			Extracellular (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.730C>T	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803502	0.16467	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.38077	1.16;1.16;1.16	5.51	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.313497	0.26492	N	0.024064	T	0.29458	0.0734	L	0.51914	1.62	0.34079	D	0.659408	B	0.21688	0.059	B	0.28465	0.09	T	0.31641	-0.9936	10	0.11182	T	0.66	-17.4498	7.7438	0.28856	0.0862:0.1662:0.7476:0.0	.	244	Q9BXC0	HCAR1_HUMAN	F	244	ENSP00000349478:L244F;ENSP00000389255:L244F;ENSP00000409980:L244F	ENSP00000349478:L244F	L	-	1	0	HCAR1	121780110	0.000000	0.05858	0.997000	0.53966	0.675000	0.39556	-0.192000	0.09587	1.297000	0.44761	0.655000	0.94253	CTC		PASS	0.567	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			45	123	45	123	---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132400609	132400609	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:132400609G>C	ENST00000321867.4	+	19	2134	c.1783G>C	c.(1783-1785)Ggc>Cgc	p.G595R	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	595					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.G595R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCCGTCCCACGGCCTGCAGTC	0.692																																						uc001uje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1783-1785)GGC>CGC		Unc-51-like kinase 1							29.0	34.0	32.0					12																	132400609		2201	4290	6491	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132400609G>C	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1783G>C	12.37:g.132400609G>C	ENSP00000324560:p.Gly595Arg						p.G595R	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	19	2051	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		595					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.1783G>C	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393064	0.42410	.	.	ENSG00000177169	ENST00000321867	T	0.57107	0.42	5.06	5.06	0.68205	.	0.200677	0.42053	D	0.000761	T	0.65893	0.2735	M	0.76328	2.33	0.58432	D	0.999999	D	0.54047	0.964	P	0.56788	0.806	T	0.68965	-0.5270	10	0.56958	D	0.05	.	11.871	0.52520	0.0804:0.0:0.9196:0.0	.	595	O75385	ULK1_HUMAN	R	595	ENSP00000324560:G595R	ENSP00000324560:G595R	G	+	1	0	ULK1	130966562	0.978000	0.34361	0.005000	0.12908	0.024000	0.10985	4.402000	0.59722	2.370000	0.80446	0.655000	0.94253	GGC		PASS	0.692	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			31	40	31	40	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19753680	19753680	+	Silent	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:19753680C>A	ENST00000400113.3	-	2	131	c.27G>T	c.(25-27)gtG>gtT	p.V9V	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	9					'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.V9V(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGCCTGCCCCACGTGGATAG	0.453																																						uc009zzj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(25-27)GTG>GTT		tubulin, alpha 3c							127.0	109.0	115.0					13																	19753680		2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753680C>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.27G>T	13.37:g.19753680C>A							p.V9V	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	76	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	9					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.27G>T	CCDS9284.1																																																																																				PASS	0.453	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		36	99	36	99	---	---	---	---
MPHOSPH8	54737	broad.mit.edu	37	13	20220920	20220920	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:20220920G>C	ENST00000361479.5	+	3	775	c.707G>C	c.(706-708)aGa>aCa	p.R236T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R236T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	236	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)	p.R236T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ggtgaaataagagatttaaag	0.303																																						uc001umh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(706-708)AGA>ACA		M-phase phosphoprotein 8							20.0	22.0	22.0					13																	20220920		2127	4265	6392	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220920G>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.707G>C	13.37:g.20220920G>C	ENSP00000355388:p.Arg236Thr					MPHOSPH8_uc001umf.1_Missense_Mutation_p.R236T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R236T|MPHOSPH8_uc001umi.2_5'UTR	p.R236T	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	716	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	236			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.707G>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896518	0.52121	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.35789	1.3;1.29	6.02	2.99	0.34606	.	0.619159	0.17845	N	0.160051	T	0.38321	0.1036	L	0.57536	1.79	0.32321	N	0.562403	P;P;D	0.53619	0.799;0.873;0.961	B;P;P	0.49637	0.343;0.544;0.617	T	0.50083	-0.8869	10	0.48119	T	0.1	.	5.2961	0.15752	0.5223:0.0:0.4777:0.0	.	236;236;236	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	T	236	ENSP00000414663:R236T;ENSP00000355388:R236T	ENSP00000355388:R236T	R	+	2	0	MPHOSPH8	19118920	1.000000	0.71417	0.819000	0.32651	0.983000	0.72400	2.602000	0.46257	0.881000	0.35993	0.650000	0.86243	AGA		PASS	0.303	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		7	53	7	53	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25356003	25356003	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:25356003C>A	ENST00000255324.5	+	6	584	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.Q178K|RNF17_ENST00000381921.1_Missense_Mutation_p.Q178K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	178					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q178K(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CATGCAGAAGCAAACGATAGA	0.303																																						uc001upr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(532-534)CAA>AAA		ring finger protein 17							127.0	136.0	133.0					13																	25356003		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25356003C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.532C>A	13.37:g.25356003C>A	ENSP00000255324:p.Gln178Lys					RNF17_uc010tdd.1_Missense_Mutation_p.Q37K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Q178K|RNF17_uc001ups.2_Missense_Mutation_p.Q117K|RNF17_uc001upq.1_Missense_Mutation_p.Q178K	p.Q178K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	6	573	+		Lung SC(185;0.0225)|Breast(139;0.077)	178					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.532C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	7.562	0.664856	0.14710	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.23147	3.01;3.02;1.92	4.3	2.37	0.29283	.	0.368948	0.23265	N	0.050085	T	0.32912	0.0845	L	0.32530	0.975	0.24705	N	0.993239	P;P;D	0.71674	0.905;0.817;0.998	B;B;D	0.78314	0.369;0.217;0.991	T	0.05649	-1.0872	10	0.42905	T	0.14	.	6.5959	0.22672	0.2657:0.5562:0.1781:0.0	.	178;178;178	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	K	178;178;37;178;178	ENSP00000255324:Q178K;ENSP00000371346:Q178K;ENSP00000255325:Q178K	ENSP00000255324:Q178K	Q	+	1	0	RNF17	24254003	0.057000	0.20700	0.239000	0.24122	0.047000	0.14425	0.006000	0.13152	0.414000	0.25790	0.462000	0.41574	CAA		PASS	0.303	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		3	88	3	88	---	---	---	---
CDX2	1045	broad.mit.edu	37	13	28539154	28539154	+	Splice_Site	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:28539154T>C	ENST00000381020.7	-	2	2674		c.e2-2		CDX2_ENST00000548877.1_Splice_Site	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2						anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.?(1)		endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		TGGTTTTCACTGTGGAGGAAG	0.527			T	ETV6	AML																																	uc001urv.2				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		1	Unknown(1)		lung(1)	lung(1)	1						c.e2-1		caudal type homeobox 2							67.0	54.0	58.0					13																	28539154		2203	4300	6503	SO:0001630	splice_region_variant	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28539154T>C	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.542-2A>G	13.37:g.28539154T>C							p.V181_splice	NM_001265	NP_001256	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	2	716	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)						O00503|Q5VTU7|Q969L8|Q9UD92	Splice_Site	SNP	ENST00000381020.7	37	c.542_splice	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351732	0.82132	.	.	ENSG00000165556	ENST00000381020;ENST00000548877	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9362	0.79712	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDX2	27437154	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.788000	0.85771	2.163000	0.67991	0.460000	0.39030	.		PASS	0.527	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5		Intron	6	39	6	39	---	---	---	---
WBP4	11193	broad.mit.edu	37	13	41642710	41642710	+	Silent	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:41642710A>G	ENST00000379487.3	+	5	676	c.276A>G	c.(274-276)ccA>ccG	p.P92P	WBP4_ENST00000542082.1_Silent_p.P71P	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	92					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)	p.P92P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTTTGGAGCCAAGCATAACAC	0.348																																						uc001uxt.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|kidney(1)	3						c.(274-276)CCA>CCG		WW domain-containing binding protein 4							70.0	73.0	72.0					13																	41642710		2203	4300	6503	SO:0001819	synonymous_variant	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41642710A>G	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.276A>G	13.37:g.41642710A>G						WBP4_uc010tfd.1_Silent_p.P71P	p.P92P	NM_007187	NP_009118	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	5	389	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	92					B7Z4M2|Q32P29	Silent	SNP	ENST00000379487.3	37	c.276A>G	CCDS9375.1																																																																																				PASS	0.348	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		11	114	11	114	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70314629	70314629	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:70314629G>T	ENST00000377844.4	-	8	2458	c.1699C>A	c.(1699-1701)Ctg>Atg	p.L567M	KLHL1_ENST00000545028.1_Missense_Mutation_p.L374M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	567					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.L567M(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)		ACTGTATTCAGATAGCTCCAG	0.423																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1699-1701)CTG>ATG		kelch-like 1 protein							120.0	106.0	110.0					13																	70314629		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314629G>T	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.1699C>A	13.37:g.70314629G>T	ENSP00000367075:p.Leu567Met					KLHL1_uc010thm.1_Missense_Mutation_p.L506M	p.L567M	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2493	-		Breast(118;0.000162)	567			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1699C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404267	0.62288	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.81579	-1.51;-1.51	4.94	3.16	0.36331	Galactose oxidase, beta-propeller (1);	0.000000	0.48286	D	0.000188	D	0.88702	0.6508	M	0.87971	2.92	0.36748	D	0.882583	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90017	0.4125	10	0.87932	D	0	.	7.2589	0.26191	0.3047:0.0:0.6953:0.0	.	567;567	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	M	567;374	ENSP00000367075:L567M;ENSP00000439602:L374M	ENSP00000367075:L567M	L	-	1	2	KLHL1	69212630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.076000	0.50081	1.208000	0.43306	0.591000	0.81541	CTG		PASS	0.423	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		16	79	16	79	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78474768	78474768	+	Missense_Mutation	SNP	C	C	T	rs201437745		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:78474768C>T	ENST00000334286.5	-	5	1209	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	EDNRB_ENST00000446573.1_Missense_Mutation_p.V325I|EDNRB_ENST00000377211.4_Missense_Mutation_p.V415I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	325					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.V415I(1)|p.V325I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGGCAAAAGACGGTTTTGGCC	0.418																																						uc001vko.2																			2	Substitution - Missense(2)		lung(2)		0						c.(973-975)GTC>ATC		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						90.0	97.0	95.0					13																	78474768		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78474768C>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.973G>A	13.37:g.78474768C>T	ENSP00000335311:p.Val325Ile					EDNRB_uc001vkq.1_Missense_Mutation_p.V325I|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.V325I|EDNRB_uc001vkp.1_Missense_Mutation_p.V408I	p.V325I	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	5	1231	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	325			Helical; Name=6; (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.973G>A	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196762	0.94960	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.36878	1.23;1.23;1.23	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.73753	2.245	0.80722	D	1	D;P;D	0.76494	0.998;0.87;0.999	D;B;D	0.67900	0.923;0.292;0.954	T	0.64445	-0.6406	10	0.72032	D	0.01	-17.6334	19.5514	0.95322	0.0:1.0:0.0:0.0	.	325;415;325	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	415;325;325	ENSP00000366416:V415I;ENSP00000403401:V325I;ENSP00000335311:V325I	ENSP00000335311:V325I	V	-	1	0	EDNRB	77372769	1.000000	0.71417	0.558000	0.28319	0.981000	0.71138	7.445000	0.80570	2.705000	0.92388	0.650000	0.86243	GTC		PASS	0.418	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			38	89	38	89	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95131309	95131309	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:95131309G>C	ENST00000377028.5	-	1	614	c.201C>G	c.(199-201)gaC>gaG	p.D67E	DCT_ENST00000446125.1_Missense_Mutation_p.D67E	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	67					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.D67E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGGGCCTTGTGTCGGCTCGCA	0.607																																						uc001vlv.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(199-201)GAC>GAG		dopachrome tautomerase isoform 1							86.0	75.0	79.0					13																	95131309		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131309G>C	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.201C>G	13.37:g.95131309G>C	ENSP00000366227:p.Asp67Glu					DCT_uc010afh.2_Missense_Mutation_p.D67E	p.D67E	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	628	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	67			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.201C>G	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981525	0.74474	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.83673	-1.75;-1.75	5.22	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	M	0.71920	2.185	0.58432	D	0.999998	D;D	0.89917	0.989;1.0	P;D	0.80764	0.853;0.994	D	0.87349	0.2336	10	0.40728	T	0.16	-29.2085	10.4923	0.44758	0.1503:0.0:0.8497:0.0	.	67;67	Q09GT4;P40126	.;TYRP2_HUMAN	E	67	ENSP00000366227:D67E;ENSP00000392762:D67E	ENSP00000366227:D67E	D	-	3	2	DCT	93929310	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	4.210000	0.58500	2.425000	0.82216	0.650000	0.86243	GAC		PASS	0.607	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			7	150	7	150	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95715008	95715008	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:95715008T>C	ENST00000376887.4	-	26	3430	c.3316A>G	c.(3316-3318)Act>Gct	p.T1106A	ABCC4_ENST00000412704.1_Missense_Mutation_p.T1059A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1106	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.T1106A(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CCAATTTCAGTTGTCAAGATC	0.413																																						uc001vmd.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|skin(1)	4						c.(3316-3318)ACT>GCT		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						138.0	128.0	131.0					13																	95715008		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95715008T>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3316A>G	13.37:g.95715008T>C	ENSP00000366084:p.Thr1106Ala					ABCC4_uc010afj.2_5'UTR|ABCC4_uc010afk.2_Missense_Mutation_p.T1059A	p.T1106A	NM_005845	NP_005836	O15439	MRP4_HUMAN			26	3435	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1106			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3316A>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162106	0.38217	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.93811	-3.29;-3.29	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.102042	0.64402	D	0.000002	D	0.82379	0.5024	N	0.03917	-0.325	0.80722	D	1	B;B	0.17038	0.003;0.02	B;B	0.20384	0.012;0.029	T	0.77789	-0.2456	10	0.14656	T	0.56	.	10.1723	0.42917	0.2437:0.0:0.0:0.7563	.	1059;1106	O15439-2;O15439	.;MRP4_HUMAN	A	1059;1106	ENSP00000388657:T1059A;ENSP00000366084:T1106A	ENSP00000366084:T1106A	T	-	1	0	ABCC4	94513009	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.411000	0.59781	2.367000	0.80283	0.528000	0.53228	ACT		PASS	0.413	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		58	229	58	229	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107145564	107145564	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr13:107145564T>A	ENST00000245323.4	-	5	975	c.826A>T	c.(826-828)Aag>Tag	p.K276*		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	276					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)	p.K276*(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTGCGCTTGGGTGTGGCC	0.607																																						uc001vqi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(826-828)AAG>TAG		ephrin B2 precursor							147.0	109.0	122.0					13																	107145564		2203	4300	6503	SO:0001587	stop_gained	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145564T>A	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.826A>T	13.37:g.107145564T>A	ENSP00000245323:p.Lys276*						p.K276*	NM_004093	NP_004084	P52799	EFNB2_HUMAN			5	851	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		276			Cytoplasmic (Potential).		Q5JV56	Nonsense_Mutation	SNP	ENST00000245323.4	37	c.826A>T	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	T	38	7.189907	0.98125	.	.	ENSG00000125266	ENST00000245323	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	.	.	.	X	276	.	ENSP00000245323:K276X	K	-	1	0	EFNB2	105943565	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.228000	0.72288	2.217000	0.71921	0.533000	0.62120	AAG		PASS	0.607	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		36	88	36	88	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23854130	23854130	+	Missense_Mutation	SNP	T	T	G	rs200972499		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr14:23854130T>G	ENST00000356287.3	-	34	5313	c.5284A>C	c.(5284-5286)Acg>Ccg	p.T1762P	MYH6_ENST00000405093.3_Missense_Mutation_p.T1762P			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1762					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.T1762P(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTACATCCGTGATGGCCTTC	0.582																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(5284-5286)ACG>CCG		myosin heavy chain 6							145.0	131.0	136.0					14																	23854130		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23854130T>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5284A>C	14.37:g.23854130T>G	ENSP00000348634:p.Thr1762Pro						p.T1762P	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	35	5351	-	all_cancers(95;2.54e-05)		1762			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5284A>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	22.6	4.314987	0.81358	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78595	-1.19;-1.19	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	D	0.90621	0.7059	H	0.94423	3.535	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.92959	0.6387	9	0.87932	D	0	.	13.2767	0.60191	0.0:0.0:0.0:1.0	.	1762	P13533	MYH6_HUMAN	P	1762	ENSP00000386041:T1762P;ENSP00000348634:T1762P	ENSP00000348634:T1762P	T	-	1	0	MYH6	22923970	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.891000	0.87319	1.941000	0.56285	0.459000	0.35465	ACG		PASS	0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			28	150	28	150	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33291373	33291373	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr14:33291373G>A	ENST00000280979.4	+	13	4524	c.4354G>A	c.(4354-4356)Gac>Aac	p.D1452N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1452					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.D1452N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATACCCCTGACTGTTTGGG	0.358																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4354-4356)GAC>AAC		A-kinase anchor protein 6							65.0	64.0	64.0					14																	33291373		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291373G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4354G>A	14.37:g.33291373G>A	ENSP00000280979:p.Asp1452Asn						p.D1452N	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4524	+	Breast(36;0.0388)|Prostate(35;0.15)		1452					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4354G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236569	0.39498	.	.	ENSG00000151320	ENST00000280979	T	0.05513	3.43	5.55	5.55	0.83447	.	0.405681	0.26816	N	0.022353	T	0.08980	0.0222	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.35240	0.198	T	0.05784	-1.0864	10	0.45353	T	0.12	-17.862	14.1875	0.65614	0.0:0.1491:0.8509:0.0	.	1452	Q13023	AKAP6_HUMAN	N	1452	ENSP00000280979:D1452N	ENSP00000280979:D1452N	D	+	1	0	AKAP6	32361124	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.878000	0.48515	2.606000	0.88127	0.563000	0.77884	GAC		PASS	0.358	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		27	61	27	61	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52741597	52741597	+	Missense_Mutation	SNP	G	G	T	rs41312506	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr14:52741597G>T	ENST00000306051.2	+	2	1097	c.995G>T	c.(994-996)cGg>cTg	p.R332L	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	332			R -> Q (in dbSNP:rs41312506). {ECO:0000269|Ref.3}.		adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.R332L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCAGTATTTCGGATATTTTTT	0.413																																						uc001wzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(994-996)CGG>CTG		prostaglandin D2 receptor	Nedocromil(DB00716)						69.0	65.0	66.0					14																	52741597		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52741597G>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.995G>T	14.37:g.52741597G>T	ENSP00000303424:p.Arg332Leu						p.R332L	NM_000953	NP_000944	Q13258	PD2R_HUMAN			2	1097	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		332			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.995G>T	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366980	0.82463	.	.	ENSG00000168229	ENST00000306051	T	0.57595	0.39	5.2	5.2	0.72013	.	0.000000	0.43919	D	0.000514	T	0.54759	0.1878	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.64550	-0.6381	10	0.66056	D	0.02	-20.0312	18.2013	0.89839	0.0:0.0:1.0:0.0	.	332	Q13258	PD2R_HUMAN	L	332	ENSP00000303424:R332L	ENSP00000303424:R332L	R	+	2	0	PTGDR	51811347	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	5.325000	0.65869	2.814000	0.96858	0.655000	0.94253	CGG		PASS	0.413	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		20	38	20	38	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58814583	58814583	+	Nonsense_Mutation	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr14:58814583T>G	ENST00000355431.3	+	15	1764	c.1391T>G	c.(1390-1392)tTa>tGa	p.L464*	ARID4A_ENST00000395168.3_Nonsense_Mutation_p.L464*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.L464*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.L464*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	464					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L464*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGATAGAATTAAAATCTCCG	0.294																																						uc001xdp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(1390-1392)TTA>TGA		retinoblastoma-binding protein 1 isoform I							60.0	64.0	63.0					14																	58814583		2203	4299	6502	SO:0001587	stop_gained	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58814583T>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1391T>G	14.37:g.58814583T>G	ENSP00000347602:p.Leu464*					ARID4A_uc001xdo.2_Nonsense_Mutation_p.L464*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.L464*|ARID4A_uc010apg.1_Nonsense_Mutation_p.L142*	p.L464*	NM_002892	NP_002883	P29374	ARI4A_HUMAN			15	1645	+			464					Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	c.1391T>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	T	39	7.410130	0.98265	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	.	.	.	5.54	3.17	0.36434	.	0.381628	0.21818	N	0.068671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.2307	5.5665	0.17173	0.1274:0.1409:0.0:0.7316	.	.	.	.	X	464;464;464;464;142	.	ENSP00000344556:L464X	L	+	2	0	ARID4A	57884336	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	1.307000	0.33516	0.392000	0.25172	-0.263000	0.10527	TTA		PASS	0.294	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		18	54	18	54	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73726051	73726051	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr14:73726051C>G	ENST00000554301.1	+	15	1946	c.1783C>G	c.(1783-1785)Ccc>Gcc	p.P595A	PAPLN_ENST00000340738.5_Missense_Mutation_p.P568A|PAPLN_ENST00000427855.1_Missense_Mutation_p.P595A|PAPLN_ENST00000555445.1_Missense_Mutation_p.P595A|PAPLN_ENST00000381166.3_Missense_Mutation_p.P595A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	595						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.P568A(1)|p.P595A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACGAGGTGACCCCAGGGGCGA	0.662																																						uc010ttx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1783-1785)CCC>GCC		papilin							59.0	62.0	61.0					14																	73726051		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73726051C>G	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1783C>G	14.37:g.73726051C>G	ENSP00000451803:p.Pro595Ala					PAPLN_uc001xnw.3_Missense_Mutation_p.P568A|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.P595A|PAPLN_uc010arm.2_5'Flank	p.P595A	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	15	1946	+			595					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1783C>G		.	.	.	.	.	.	.	.	.	.	C	0.174	-1.068750	0.01934	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.61859	0.07;0.07;0.37;0.07;0.21	0.137	0.137	0.14787	.	.	.	.	.	T	0.33962	0.0881	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33171	0.084;0.278;0.4	B;B;B	0.28011	0.015;0.039;0.085	T	0.15780	-1.0425	8	0.14252	T	0.57	.	.	.	.	.	595;595;568	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	A	568;595;595;595;595	ENSP00000345395:P568A;ENSP00000403403:P595A;ENSP00000370558:P595A;ENSP00000451803:P595A;ENSP00000451729:P595A	ENSP00000216658:P595A	P	+	1	0	PAPLN	72795804	0.001000	0.12720	0.033000	0.17914	0.172000	0.22775	-0.550000	0.06034	0.291000	0.22468	0.297000	0.19635	CCC		PASS	0.662	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		17	118	17	118	---	---	---	---
IGHV1-46	28465	broad.mit.edu	37	14	106967184	106967184	+	RNA	SNP	A	A	T	rs540499178		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr14:106967184A>T	ENST00000390622.2	-	0	519									immunoglobulin heavy variable 1-46																		TACCACCACTAGGGTTGATTA	0.547																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							155.0	150.0	152.0					14																	106967184		2022	4186	6208			8755							g.chr14:106967184A>T	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967184A>T														201		-									RNA	SNP	ENST00000390622.2	37	c.9257T>A																																																																																					PASS	0.547	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		8	232	8	232	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28358790	28358790	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:28358790G>A	ENST00000261609.7	-	91	14056	c.13948C>T	c.(13948-13950)Cgg>Tgg	p.R4650W		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R4650W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTCCTTCCCGAACAGCAGCC	0.542																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(13948-13950)CGG>TGG		hect domain and RLD 2							110.0	101.0	104.0					15																	28358790		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28358790G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13948C>T	15.37:g.28358790G>A	ENSP00000261609:p.Arg4650Trp					HERC2_uc001zbi.2_Missense_Mutation_p.R339W	p.R4650W	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	91	14054	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4650			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.13948C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766672	0.90020	.	.	ENSG00000128731	ENST00000261609	T	0.51325	0.71	5.29	5.29	0.74685	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.85882	0.1423	10	0.87932	D	0	.	19.0017	0.92837	0.0:0.0:1.0:0.0	.	4650;339	O95714;Q8ND39	HERC2_HUMAN;.	W	4650	ENSP00000261609:R4650W	ENSP00000261609:R4650W	R	-	1	2	HERC2	26032385	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.656000	0.83736	2.499000	0.84300	0.555000	0.69702	CGG		PASS	0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		14	33	14	33	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40241344	40241344	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:40241344G>A	ENST00000263791.5	+	4	431	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	snoU13_ENST00000459610.1_RNA|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.V130M|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.V130M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	130	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.V130M(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GGCTTACCACGTGCAGTCATT	0.468																																						uc001zkm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(388-390)GTG>ATG		eukaryotic translation initiation factor 2 alpha							222.0	201.0	208.0					15																	40241344		1941	4129	6070	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40241344G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.388G>A	15.37:g.40241344G>A	ENSP00000263791:p.Val130Met					EIF2AK4_uc001zkl.2_Missense_Mutation_p.V130M	p.V130M	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	4	438	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	130			RWD.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.388G>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682826	0.68157	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.25250	1.81;1.81	5.8	5.8	0.92144	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.136757	0.50627	D	0.000102	T	0.54759	0.1878	M	0.88704	2.975	0.39164	D	0.962461	D;D	0.89917	0.99;1.0	D;D	0.70016	0.909;0.967	T	0.63778	-0.6560	10	0.72032	D	0.01	-17.5834	11.4014	0.49873	0.1137:0.0:0.8863:0.0	.	130;130	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	M	130	ENSP00000263791:V130M;ENSP00000372174:V130M	ENSP00000263791:V130M	V	+	1	0	EIF2AK4	38028636	0.959000	0.32827	0.980000	0.43619	0.953000	0.61014	1.713000	0.37951	2.738000	0.93877	0.555000	0.69702	GTG		PASS	0.468	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			16	296	16	296	---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42109934	42109934	+	Splice_Site	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:42109934G>T	ENST00000456763.2	+	17	2118		c.e17+1		MAPKBP1_ENST00000221214.6_Splice_Site|MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000457542.2_Splice_Site	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1									p.?(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GAAATATTCGGTGGGCGTCCC	0.572																																						uc001zok.3																			1	Unknown(1)		lung(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.e17+1		mitogen-activated protein kinase binding protein							53.0	46.0	48.0					15																	42109934		2203	4299	6502	SO:0001630	splice_region_variant	23005							g.chr15:42109934G>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1922+1G>T	15.37:g.42109934G>T						MAPKBP1_uc001zoj.3_Splice_Site_p.R635_splice|MAPKBP1_uc010bcj.2_Splice_Site_p.R142_splice|MAPKBP1_uc010bci.2_Splice_Site_p.R635_splice|MAPKBP1_uc010udb.1_Splice_Site_p.R474_splice|MAPKBP1_uc010bck.2_Splice_Site|MAPKBP1_uc010bcl.2_Splice_Site_p.R142_splice	p.R641_splice	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	17	2208	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)						A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Splice_Site	SNP	ENST00000456763.2	37	c.1922_splice	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	27.7	4.853233	0.91355	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4398	0.94813	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKBP1	39897226	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.866000	0.99616	2.590000	0.87494	0.563000	0.77884	.		PASS	0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	Intron	10	19	10	19	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50534807	50534807	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:50534807C>G	ENST00000267845.3	-	12	2041	c.1639G>C	c.(1639-1641)Gac>Cac	p.D547H	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.D514H	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.D547H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TCAACTGGGTCCAGCAGGGTT	0.522																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1639-1641)GAC>CAC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						82.0	82.0	82.0					15																	50534807		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534807C>G		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1639G>C	15.37:g.50534807C>G	ENSP00000267845:p.Asp547His					HDC_uc001zxy.2_Missense_Mutation_p.D290H|HDC_uc010uff.1_Missense_Mutation_p.D514H	p.D547H	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1745	-		all_lung(180;0.0138)	547						Missense_Mutation	SNP	ENST00000267845.3	37	c.1639G>C	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099746	0.37048	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.12672	2.88;2.66	5.73	5.73	0.89815	.	3.441040	0.00792	N	0.001359	T	0.38108	0.1028	L	0.38175	1.15	0.51012	D	0.999905	D;D	0.89917	1.0;0.993	D;P	0.68192	0.956;0.648	T	0.07888	-1.0749	10	0.87932	D	0	-29.2056	19.8926	0.96935	0.0:1.0:0.0:0.0	.	514;547	B7ZM01;P19113	.;DCHS_HUMAN	H	547;514	ENSP00000267845:D547H;ENSP00000440252:D514H	ENSP00000267845:D547H	D	-	1	0	HDC	48322099	0.998000	0.40836	0.977000	0.42913	0.009000	0.06853	3.391000	0.52530	2.709000	0.92574	0.563000	0.77884	GAC		PASS	0.522	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			30	129	30	129	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56386134	56386134	+	Silent	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:56386134T>C	ENST00000559447.2	-	9	3772	c.3501A>G	c.(3499-3501)gcA>gcG	p.A1167A	RFX7_ENST00000317318.6_Silent_p.A1264A|RFX7_ENST00000422057.1_Silent_p.A1167A|RFX7_ENST00000423270.1_Silent_p.A1264A			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1167					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A1167A(1)|p.A1264A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AACCTCTCACTGCATCATCAT	0.423																																						uc010bfn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3790-3792)GCA>GCG		regulatory factor X domain containing 2							93.0	85.0	87.0					15																	56386134		1879	4107	5986	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386134T>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3501A>G	15.37:g.56386134T>C						RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.A1078A	p.A1264A	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	3792	-			1167					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.3792A>G																																																																																					PASS	0.423	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		37	75	37	75	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	77021063	77021063	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:77021063G>C	ENST00000563290.1	-	17	2133	c.2038C>G	c.(2038-2040)Cta>Gta	p.L680V	SCAPER_ENST00000538941.2_Missense_Mutation_p.L434V|SCAPER_ENST00000324767.7_Missense_Mutation_p.L680V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	680	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L680V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTGCCTCTAGAGCTCTCTTG	0.368																																						uc002bby.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(2038-2040)CTA>GTA		S-phase cyclin A-associated protein in the ER							56.0	57.0	57.0					15																	77021063		1819	4070	5889	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77021063G>C	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2038C>G	15.37:g.77021063G>C	ENSP00000454973:p.Leu680Val					SCAPER_uc010bkr.2_5'UTR|SCAPER_uc002bbx.2_Missense_Mutation_p.L434V|SCAPER_uc002bbz.1_Missense_Mutation_p.L551V|SCAPER_uc002bca.1_Missense_Mutation_p.L545V|SCAPER_uc002bcb.1_Missense_Mutation_p.L686V	p.L680V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			16	2097	-			679	RAL->AAA: No effect on CCNA2/CDK2 complex-binding.		Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.2038C>G	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041823	0.55003	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.34472	1.41;1.36	5.12	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.73217	2.22	0.43338	D	0.995382	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.51284	-0.8725	10	0.51188	T	0.08	.	8.2802	0.31896	0.2452:0.0:0.7548:0.0	.	701;434	Q9BY12-2;F5H7X8	.;.	V	680;434;702	ENSP00000326924:L680V;ENSP00000442190:L434V	ENSP00000303560:L702V	L	-	1	2	SCAPER	74808118	1.000000	0.71417	0.364000	0.25888	0.984000	0.73092	2.895000	0.48648	0.650000	0.30769	0.563000	0.77884	CTA		PASS	0.368	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		7	33	7	33	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78486325	78486325	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:78486325C>A	ENST00000258873.4	-	4	696	c.491G>T	c.(490-492)gGc>gTc	p.G164V	ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	164					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.G164V(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGAGTTGAAGCCGAGGATGGC	0.662																																						uc002bdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)GGC>GTC		lipidosin							45.0	42.0	43.0					15																	78486325		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78486325C>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.491G>T	15.37:g.78486325C>A	ENSP00000258873:p.Gly164Val					ACSBG1_uc010umw.1_Missense_Mutation_p.G160V|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Missense_Mutation_p.G57V	p.G164V	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			4	547	-			164					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.491G>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631595	0.87660	.	.	ENSG00000103740	ENST00000258873	T	0.39056	1.1	4.89	3.96	0.45880	AMP-dependent synthetase/ligase (1);	0.063188	0.64402	D	0.000008	T	0.71837	0.3387	M	0.93150	3.385	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.79108	0.992;0.98	T	0.80013	-0.1560	10	0.87932	D	0	-16.6843	13.902	0.63809	0.0:0.8462:0.1538:0.0	.	160;164	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	V	164	ENSP00000258873:G164V	ENSP00000258873:G164V	G	-	2	0	ACSBG1	76273380	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.115000	0.57865	1.031000	0.39867	0.655000	0.94253	GGC		PASS	0.662	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		5	37	5	37	---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92977483	92977483	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr15:92977483A>T	ENST00000268164.3	+	3	405	c.168A>T	c.(166-168)gaA>gaT	p.E56D	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.E35D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	56					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.E56D(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCAGAGCTGAAGTTGTAATAA	0.433																																						uc002bra.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GAA>GAT		ST8 alpha-N-acetyl-neuraminide							124.0	119.0	121.0					15																	92977483		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92977483A>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.168A>T	15.37:g.92977483A>T	ENSP00000268164:p.Glu56Asp					ST8SIA2_uc002brb.2_Missense_Mutation_p.E35D	p.E56D	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		3	323	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		56			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.168A>T	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491055	0.44249	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.18502	2.21;2.47	5.65	3.22	0.36961	.	0.460694	0.23019	N	0.052869	T	0.13329	0.0323	L	0.40543	1.245	0.44927	D	0.997947	B;P	0.44690	0.0;0.841	B;B	0.39465	0.001;0.3	T	0.06516	-1.0822	10	0.15066	T	0.55	0.0295	12.3922	0.55364	0.7339:0.2661:0.0:0.0	.	35;56	C6G488;Q92186	.;SIA8B_HUMAN	D	56;35	ENSP00000268164:E56D;ENSP00000437382:E35D	ENSP00000268164:E56D	E	+	3	2	ST8SIA2	90778487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.061000	0.41403	0.368000	0.24481	0.533000	0.62120	GAA		PASS	0.433	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		35	198	35	198	---	---	---	---
CAPN15	6650	broad.mit.edu	37	16	597775	597775	+	Missense_Mutation	SNP	G	G	A	rs374879724		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:597775G>A	ENST00000219611.2	+	4	1300	c.937G>A	c.(937-939)Ggc>Agc	p.G313S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	313					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G313S(1)									CGTAGAGGCCGGCAGCTCCAC	0.677																																						uc002chi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(937-939)GGC>AGC		small optic lobes		G	SER/GLY	1,4369		0,1,2184	24.0	24.0	24.0		937	-4.7	0.0	16		24	0,8552		0,0,4276	no	missense	SOLH	NM_005632.2	56	0,1,6460	AA,AG,GG		0.0,0.0229,0.0077	benign	313/1087	597775	1,12921	2185	4276	6461	SO:0001583	missense	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:597775G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.937G>A	16.37:g.597775G>A	ENSP00000219611:p.Gly313Ser					SOLH_uc002chh.1_Missense_Mutation_p.G313S	p.G313S	NM_005632	NP_005623	O75808	CAN15_HUMAN			4	1300	+		Hepatocellular(780;0.00335)	313					B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.937G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	1.224	-0.626158	0.03610	2.29E-4	0.0	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.87571	-2.27	4.69	-4.7	0.03288	.	0.869295	0.10441	N	0.674288	T	0.67534	0.2903	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.57165	-0.7858	10	0.08381	T	0.77	.	10.0354	0.42125	0.1453:0.0:0.653:0.2017	.	313	O75808	CAN15_HUMAN	S	313	ENSP00000219611:G313S	ENSP00000219611:G313S	G	+	1	0	SOLH	537776	0.968000	0.33430	0.001000	0.08648	0.001000	0.01503	0.886000	0.28241	-1.051000	0.03226	-2.101000	0.00361	GGC		PASS	0.677	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		14	17	14	17	---	---	---	---
SEPT12	124404	broad.mit.edu	37	16	4836106	4836107	+	Splice_Site	DNP	CC	CC	AA			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:4836106_4836107CC>AA	ENST00000268231.8	-	3	430	c.167_167GG>TT	c.(166-168)gGGg>gTTgg	p.G56V	SEPT12_ENST00000396693.5_Splice_Site_p.G56V|SMIM22_ENST00000589327.1_5'Flank|SMIM22_ENST00000589721.1_5'Flank|SEPT12_ENST00000591861.1_5'UTR	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	56	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.?(2)|p.G56V(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCCGCTTTGCCCTGGGAGTGGC	0.525																																						uc002cxq.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	skin(1)	1						c.(166-168)GGG>GTG|c.e3-1		septin 12 isoform 2																																				SO:0001630	splice_region_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4836106C>A|g.chr16:4836107C>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.167_167delinsAA	16.37:g.4836106_4836107delinsAA						SEPT12_uc002cxr.2_Missense_Mutation_p.G56V|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank|SEPT12_uc002cxr.2_Splice_Site_p.G56_splice|SEPT12_uc010bty.2_Splice_Site|uc002cxt.2_5'Flank	p.G56V|p.G56_splice	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			3	308	-			56|	G->N: Abolishes binding to GTP and to SEPT11, and also abolishes the ability of SEPT12 to form filamentous structures.|		GTP (By similarity).|		Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation|Splice_Site	SNP	ENST00000268231.8	37	c.167G>T|c.167_splice	CCDS10522.1																																																																																				PASS	0.525	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605	Missense_Mutation	19|20	43|44	19	43	---	---	---	---
TMEM186	25880	broad.mit.edu	37	16	8890269	8890269	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:8890269C>T	ENST00000333050.6	-	2	215	c.182G>A	c.(181-183)cGt>cAt	p.R61H	PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000539622.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000537352.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	61						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R61H(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGCATCAAAACGGTAAAACAT	0.512																																						uc002cze.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)CGT>CAT		transmembrane protein 186							141.0	137.0	138.0					16																	8890269		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890269C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.182G>A	16.37:g.8890269C>T	ENSP00000331640:p.Arg61His					PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	p.R61H	NM_015421	NP_056236	Q96B77	TM186_HUMAN			2	216	-			61					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.182G>A	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610477	0.46527	.	.	ENSG00000184857	ENST00000333050	.	.	.	5.18	3.23	0.37069	.	0.000000	0.42964	D	0.000621	T	0.55000	0.1893	M	0.76574	2.34	0.80722	D	1	P	0.40534	0.72	B	0.39119	0.291	T	0.57318	-0.7832	9	0.72032	D	0.01	-2.2588	8.2476	0.31698	0.0:0.7528:0.0:0.2472	.	61	Q96B77	TM186_HUMAN	H	61	.	ENSP00000331640:R61H	R	-	2	0	TMEM186	8797770	0.974000	0.33945	0.613000	0.29037	0.358000	0.29455	1.926000	0.40084	0.698000	0.31739	0.561000	0.74099	CGT		PASS	0.512	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		45	132	45	132	---	---	---	---
NSMCE1	197370	broad.mit.edu	37	16	27268767	27268767	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:27268767T>C	ENST00000361439.4	-	2	224	c.125A>G	c.(124-126)aAg>aGg	p.K42R		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	42	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K42R(1)		endometrium(2)|large_intestine(2)|lung(3)	7						GTCATGGACCTTGTAGCAGTG	0.547																																						uc002doi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)AAG>AGG		non-SMC element 1 homolog							117.0	125.0	123.0					16																	27268767		2112	4218	6330	SO:0001583	missense	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27268767T>C	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.125A>G	16.37:g.27268767T>C	ENSP00000355077:p.Lys42Arg					NSMCE1_uc002doj.1_RNA	p.K42R	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN			2	223	-			42					D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	ENST00000361439.4	37	c.125A>G	CCDS10628.2	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612151	0.28712	.	.	ENSG00000169189	ENST00000361439	T	0.30182	1.54	4.85	1.24	0.21308	.	0.222920	0.44688	N	0.000439	T	0.09949	0.0244	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	10	0.22109	T	0.4	.	2.7173	0.05191	0.1905:0.2199:0.0:0.5896	.	42	Q8WV22	NSE1_HUMAN	R	42	ENSP00000355077:K42R	ENSP00000355077:K42R	K	-	2	0	NSMCE1	27176268	0.312000	0.24545	0.076000	0.20297	0.798000	0.45092	-0.061000	0.11693	0.025000	0.15241	0.460000	0.39030	AAG		PASS	0.547	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		25	202	25	202	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27751428	27751428	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:27751428T>G	ENST00000261588.4	+	15	1829	c.1810T>G	c.(1810-1812)Tta>Gta	p.L604V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	604						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L604V(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CAATGGCAAGTTAGACAAAGG	0.473																																						uc002dow.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1810-1812)TTA>GTA		hypothetical protein LOC23247							102.0	98.0	100.0					16																	27751428		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751428T>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1810T>G	16.37:g.27751428T>G	ENSP00000261588:p.Leu604Val						p.L604V	NM_015202	NP_056017	O60303	K0556_HUMAN			15	1834	+			604					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1810T>G	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909936	0.33721	.	.	ENSG00000047578	ENST00000261588	T	0.21932	1.98	5.39	1.78	0.24846	.	0.000000	0.64402	D	0.000002	T	0.36663	0.0975	M	0.62016	1.91	0.30820	N	0.737922	D	0.89917	1.0	D	0.85130	0.997	T	0.31916	-0.9926	10	0.72032	D	0.01	-6.6791	5.9845	0.19426	0.0:0.202:0.1297:0.6683	.	604	O60303	K0556_HUMAN	V	604	ENSP00000261588:L604V	ENSP00000261588:L604V	L	+	1	2	KIAA0556	27658929	0.654000	0.27367	0.100000	0.21137	0.031000	0.12232	0.740000	0.26188	0.025000	0.15241	0.533000	0.62120	TTA		PASS	0.473	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		54	120	54	120	---	---	---	---
GOT2	2806	broad.mit.edu	37	16	58750702	58750702	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:58750702C>A	ENST00000245206.5	-	7	846	c.718G>T	c.(718-720)Gcg>Tcg	p.A240S	GOT2_ENST00000434819.2_Missense_Mutation_p.A197S|GOT2_ENST00000564400.1_Intron	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	240					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.A240S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	TCAAAGAACGCAAAGAGATTC	0.453																																						uc002eof.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(718-720)GCG>TCG		aspartate aminotransferase 2 precursor	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						68.0	60.0	62.0					16																	58750702		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58750702C>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.718G>T	16.37:g.58750702C>A	ENSP00000245206:p.Ala240Ser					GOT2_uc010vim.1_Missense_Mutation_p.A197S	p.A240S	NM_002080	NP_002071	P00505	AATM_HUMAN			7	832	-			240					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.718G>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695073	0.68386	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.90676	-2.71;-2.71	5.54	5.54	0.83059	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.268081	0.42548	D	0.000681	D	0.89308	0.6678	L	0.57536	1.79	0.32783	N	0.502187	B;B	0.23990	0.095;0.066	B;B	0.32624	0.1;0.149	D	0.88043	0.2782	9	.	.	.	-1.302	14.4488	0.67370	0.0:0.8531:0.1469:0.0	.	197;240	E7ERW2;P00505	.;AATM_HUMAN	S	240;197	ENSP00000245206:A240S;ENSP00000394100:A197S	.	A	-	1	0	GOT2	57308203	0.956000	0.32656	0.996000	0.52242	0.977000	0.68977	2.470000	0.45119	2.779000	0.95612	0.591000	0.81541	GCG		PASS	0.453	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			22	76	22	76	---	---	---	---
ENKD1	84080	broad.mit.edu	37	16	67698949	67698949	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:67698949G>A	ENST00000243878.4	-	3	724	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	ENKD1_ENST00000602644.1_Missense_Mutation_p.R135C|ENKD1_ENST00000602409.1_5'UTR|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	135						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)		p.R135C(1)									TTGGGTGAGCGCCACAGAGCT	0.597																																						uc002etw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)CGC>TGC		hypothetical protein LOC84080							102.0	112.0	109.0					16																	67698949		2198	4300	6498	SO:0001583	missense	84080					microtubule cytoskeleton	protein binding	g.chr16:67698949G>A	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.403C>T	16.37:g.67698949G>A	ENSP00000243878:p.Arg135Cys					C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Missense_Mutation_p.R135C|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	p.R135C	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	686	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	135					Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	c.403C>T	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526607	0.64860	.	.	ENSG00000124074	ENST00000243878	.	.	.	5.6	4.61	0.57282	.	0.286275	0.37012	N	0.002292	T	0.50735	0.1633	L	0.54323	1.7	0.51012	D	0.999908	D	0.62365	0.991	B	0.44315	0.446	T	0.58098	-0.7696	9	0.72032	D	0.01	-10.3566	13.3242	0.60450	0.0:0.0:0.677:0.323	.	135	Q9H0I2	CP048_HUMAN	C	135	.	ENSP00000243878:R135C	R	-	1	0	C16orf48	66256450	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	4.952000	0.63618	2.653000	0.90120	0.563000	0.77884	CGC		PASS	0.597	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		7	245	7	245	---	---	---	---
WWP2	11060	broad.mit.edu	37	16	69965469	69965469	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:69965469G>T	ENST00000359154.2	+	15	1680	c.1579G>T	c.(1579-1581)Gat>Tat	p.D527Y	MIR140_ENST00000385282.1_RNA|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.D411Y|WWP2_ENST00000448661.1_Missense_Mutation_p.D527Y|WWP2_ENST00000568684.1_Missense_Mutation_p.D88Y|WWP2_ENST00000356003.2_Missense_Mutation_p.D527Y	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	527					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.D527Y(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTTTCGAAGATTCCTTCCA	0.502																																						uc002exu.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(1579-1581)GAT>TAT		WW domain containing E3 ubiquitin protein ligase							86.0	76.0	79.0					16																	69965469		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69965469G>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1579G>T	16.37:g.69965469G>T	ENSP00000352069:p.Asp527Tyr					WWP2_uc002exv.1_Missense_Mutation_p.D527Y|WWP2_uc010vlm.1_Missense_Mutation_p.D411Y|WWP2_uc010vln.1_Missense_Mutation_p.D145Y|WWP2_uc002exw.1_Missense_Mutation_p.D88Y|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	p.D527Y	NM_007014	NP_008945	O00308	WWP2_HUMAN			16	1668	+			527					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.1579G>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983770	0.93044	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.7	5.7	0.88788	HECT (1);	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95102	0.8231	9	.	.	.	.	19.8471	0.96713	0.0:0.0:1.0:0.0	.	527	O00308	WWP2_HUMAN	Y	527;88;527;527;414;411	ENSP00000352069:D527Y;ENSP00000396871:D527Y;ENSP00000348283:D527Y;ENSP00000445616:D411Y	.	D	+	1	0	WWP2	68522970	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.804000	0.99143	2.688000	0.91661	0.655000	0.94253	GAT		PASS	0.502	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		32	64	32	64	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75263596	75263596	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:75263596C>T	ENST00000162330.5	-	7	2552	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	BCAR1_ENST00000538440.2_Missense_Mutation_p.R809H|BCAR1_ENST00000393420.6_Missense_Mutation_p.R827H|BCAR1_ENST00000418647.3_Missense_Mutation_p.R855H|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000546196.1_Missense_Mutation_p.R780H|BCAR1_ENST00000393422.2_Missense_Mutation_p.R827H|BCAR1_ENST00000542031.2_Missense_Mutation_p.R807H|BCAR1_ENST00000535626.2_Missense_Mutation_p.R661H|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.R827H	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	809					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.R827H(1)|p.R809H(1)|p.R855H(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACCTGGCTGCGCACGTCAGC	0.632																																						uc002fdv.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(2425-2427)CGC>CAC		breast cancer anti-estrogen resistance 1							66.0	49.0	54.0					16																	75263596		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263596C>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2426G>A	16.37:g.75263596C>T	ENSP00000162330:p.Arg809His					BCAR1_uc002fdt.2_Missense_Mutation_p.R262H|BCAR1_uc002fdu.2_Missense_Mutation_p.R599H|BCAR1_uc010cgu.2_Missense_Mutation_p.R798H|BCAR1_uc010vna.1_Missense_Mutation_p.R807H|BCAR1_uc010vnb.1_Missense_Mutation_p.R855H|BCAR1_uc002fdw.2_Missense_Mutation_p.R809H|BCAR1_uc010vnc.1_Missense_Mutation_p.R661H|BCAR1_uc010vnd.1_Missense_Mutation_p.R827H|BCAR1_uc002fdx.2_Missense_Mutation_p.R827H	p.R809H	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2549	-			809					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2426G>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408619	0.83340	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.04	4.08	0.47627	CAS family, DUF3513 (1);	0.063978	0.56097	D	0.000030	T	0.56688	0.2002	M	0.82323	2.585	0.58432	D	0.999991	D;P;D;D;D;D;P;D;P	0.76494	0.999;0.937;0.999;0.999;0.999;0.999;0.937;0.999;0.949	D;B;D;D;D;D;B;D;B	0.74674	0.984;0.253;0.984;0.972;0.972;0.984;0.253;0.984;0.257	T	0.63633	-0.6593	10	0.87932	D	0	-30.7602	12.7021	0.57038	0.0:0.9186:0.0:0.0814	.	827;661;855;807;827;827;809;809;599	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	H	809;827;827;809;855;661;827;807;780	ENSP00000162330:R809H;ENSP00000377074:R827H;ENSP00000392708:R827H;ENSP00000443841:R809H;ENSP00000391669:R855H;ENSP00000440370:R661H;ENSP00000377072:R827H;ENSP00000440415:R807H;ENSP00000442161:R780H	ENSP00000162330:R809H	R	-	2	0	BCAR1	73821097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.015000	0.49599	1.245000	0.43885	0.467000	0.42956	CGC		PASS	0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		14	44	14	44	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81161381	81161381	+	RNA	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:81161381C>T	ENST00000534142.1	-	0	722				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGTGCTTTGGCGATCAGTCCC	0.517																																						uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6334-6336)CGC>CAC		polycystin 1-like 2 isoform a							53.0	51.0	52.0					16																	81161381		1994	4167	6161			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161381C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161381C>T						PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	p.R2112H	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			38	6335	-			2112			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.6335G>A																																																																																					PASS	0.517	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			14	37	14	37	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81248675	81248675	+	RNA	SNP	G	G	T	rs79108751	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr16:81248675G>T	ENST00000525539.1	-	0	587				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.A196A(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGGACGCCCGGCATCCTGGG	0.642											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fgh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(586-588)GCC>GCA		polycystin 1-like 2 isoform a							19.0	24.0	22.0					16																	81248675		1983	4152	6135			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81248675G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81248675G>T			OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1204	PKD1L2_uc002fgj.2_Silent_p.A196A	p.A196A	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			3	588	-			196			SUEL-type lectin.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.588C>A																																																																																					PASS	0.642	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			7	10	7	10	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1585256	1585256	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:1585256C>A	ENST00000572621.1	-	4	776	c.511G>T	c.(511-513)Gat>Tat	p.D171Y	PRPF8_ENST00000304992.6_Missense_Mutation_p.D171Y			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	171					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.D171Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGCTCCTCATCATCAAAAGGG	0.512																																						uc002fte.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(511-513)GAT>TAT		U5 snRNP-specific protein							93.0	92.0	92.0					17																	1585256		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585256C>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.511G>T	17.37:g.1585256C>A	ENSP00000460348:p.Asp171Tyr						p.D171Y	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	5	625	-			171					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.511G>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.527634	0.85706	.	.	ENSG00000174231	ENST00000304992	T	0.57595	0.39	5.47	5.47	0.80525	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85810	0.1379	10	0.87932	D	0	.	19.3655	0.94460	0.0:1.0:0.0:0.0	.	171	Q6P2Q9	PRP8_HUMAN	Y	171	ENSP00000304350:D171Y	ENSP00000304350:D171Y	D	-	1	0	PRPF8	1532006	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.789000	0.85783	2.580000	0.87095	0.550000	0.68814	GAT		PASS	0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	156	4	156	---	---	---	---
CTNS	1497	broad.mit.edu	37	17	3561418	3561418	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:3561418C>A	ENST00000046640.3	+	10	1394	c.801C>A	c.(799-801)ttC>ttA	p.F267L	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Missense_Mutation_p.F120L|CTNS_ENST00000441220.2_Missense_Mutation_p.F159L|CTNS_ENST00000381870.3_Missense_Mutation_p.F267L	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	267	PQ-loop 2.				adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.F267L(2)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	AGTTTCTCTTCTGCTTCTCCT	0.587																																						uc002fwb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(799-801)TTC>TTA		cystinosin isoform 2	L-Cystine(DB00138)						139.0	113.0	122.0					17																	3561418		2203	4300	6503	SO:0001583	missense	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3561418C>A	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.801C>A	17.37:g.3561418C>A	ENSP00000046640:p.Phe267Leu					CTNS_uc002fwa.2_Missense_Mutation_p.F267L|CTNS_uc010ckj.2_Missense_Mutation_p.F267L|CTNS_uc010vrv.1_Missense_Mutation_p.F120L|CTNS_uc010vrw.1_Missense_Mutation_p.F159L	p.F267L	NM_004937	NP_004928	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	10	1394	+			267			Helical; (Potential).|PQ-loop 2.		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	c.801C>A	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.388794	0.82902	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72	5.24	5.24	0.73138	.	0.050753	0.85682	D	0.000000	D	0.94361	0.8187	L	0.29908	0.895	0.80722	D	1	B;B;P	0.34864	0.06;0.026;0.473	B;B;B	0.27887	0.026;0.065;0.084	D	0.93462	0.6811	10	0.30078	T	0.28	-28.9912	18.1898	0.89804	0.0:1.0:0.0:0.0	.	159;267;267	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	L	267;267;159;120	ENSP00000046640:F267L;ENSP00000371294:F267L;ENSP00000411465:F159L;ENSP00000395471:F120L	ENSP00000046640:F267L	F	+	3	2	CTNS	3508167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.523000	0.53488	2.601000	0.87937	0.655000	0.94253	TTC		PASS	0.587	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		6	112	6	112	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	G	rs267605076		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:7578177C>G	ENST00000269305.4	-	6	861	c.672G>C	c.(670-672)gaG>gaC	p.E224D	TP53_ENST00000359597.4_Splice_Site_p.E224D|TP53_ENST00000455263.2_Splice_Site_p.E224D|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site_p.E224D|TP53_ENST00000445888.2_Splice_Site_p.E224D|TP53_ENST00000413465.2_Splice_Site_p.E224D	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAAACCAGACCTCAGGCGGCT	0.532		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		61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(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						c.(670-672)GAG>GAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							81.0	76.0	78.0					17																	7578177		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578177C>G	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.672+1G>C	17.37:g.7578177C>G		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.E224D|TP53_uc002gih.2_Missense_Mutation_p.E224D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E92D|TP53_uc010cng.1_Missense_Mutation_p.E92D|TP53_uc002gii.1_Missense_Mutation_p.E92D|TP53_uc010cnh.1_Missense_Mutation_p.E224D|TP53_uc010cni.1_Missense_Mutation_p.E224D|TP53_uc002gij.2_Missense_Mutation_p.E224D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E131D|TP53_uc002gio.2_Missense_Mutation_p.E92D|TP53_uc010vug.1_Missense_Mutation_p.E185D	p.E224D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	224		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.672G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488845	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	5.28	4.31	0.51392	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057313	0.64402	D	0.000001	D	0.99230	0.9732	L	0.59436	1.845	0.51482	D	0.99992	B;B;B;B;B;B;B	0.28636	0.005;0.001;0.218;0.001;0.001;0.001;0.002	B;B;B;B;B;B;B	0.37346	0.015;0.017;0.247;0.002;0.03;0.037;0.006	D	0.99917	1.1232	10	0.87932	D	0	-13.9223	12.1312	0.53944	0.0:0.9158:0.0:0.0842	.	185;224;224;131;224;224;224	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	224;224;224;224;224;224;213;131;92;131	ENSP00000410739:E224D;ENSP00000352610:E224D;ENSP00000269305:E224D;ENSP00000398846:E224D;ENSP00000391127:E224D;ENSP00000391478:E224D;ENSP00000425104:E92D;ENSP00000423862:E131D	ENSP00000269305:E224D	E	-	3	2	TP53	7518902	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.040000	0.70980	1.362000	0.46000	0.563000	0.77884	GAG		PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	15	35	15	35	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33498393	33498393	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:33498393C>G	ENST00000268876.5	+	13	1845	c.1748C>G	c.(1747-1749)aCc>aGc	p.T583S	UNC45B_ENST00000378449.1_Missense_Mutation_p.T502S|UNC45B_ENST00000433649.1_Missense_Mutation_p.T581S|UNC45B_ENST00000394570.2_Missense_Mutation_p.T581S|UNC45B_ENST00000591048.1_Missense_Mutation_p.T502S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	583					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.T583S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGAACTGCACCAACAGCTAC	0.567											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hja.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1747-1749)ACC>AGC		cardiomyopathy associated 4 isoform 1							151.0	121.0	131.0					17																	33498393		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33498393C>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1748C>G	17.37:g.33498393C>G	ENSP00000268876:p.Thr583Ser		OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	UNC45B_uc002hjb.2_Missense_Mutation_p.T581S|UNC45B_uc002hjc.2_Missense_Mutation_p.T581S|UNC45B_uc010cto.2_Missense_Mutation_p.T502S	p.T583S	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			13	1845	+		Ovarian(249;0.17)	583					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1748C>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828083	0.50845	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.68903	-0.36;-0.36;-0.36	5.87	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.091157	0.85682	N	0.000000	T	0.68540	0.3012	M	0.74389	2.26	0.42390	D	0.99252	B;P;B	0.38195	0.15;0.622;0.343	B;B;B	0.37550	0.072;0.253;0.139	T	0.72818	-0.4178	10	0.51188	T	0.08	-37.8331	16.5172	0.84304	0.0:0.8693:0.1307:0.0	.	502;581;583	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	S	583;583;581;502	ENSP00000268876:T583S;ENSP00000412840:T581S;ENSP00000367710:T502S	ENSP00000268876:T583S	T	+	2	0	UNC45B	30522506	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.935000	0.63498	1.611000	0.50210	0.655000	0.94253	ACC		PASS	0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		4	183	4	183	---	---	---	---
TMEM99	147184	broad.mit.edu	37	17	38991294	38991294	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:38991294C>G	ENST00000301665.3	+	3	830	c.526C>G	c.(526-528)Ctt>Gtt	p.L176V		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	176						integral component of membrane (GO:0016021)		p.L176V(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				CCCATCAGTTCTTTACTCTGA	0.408																																						uc002hvj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(526-528)CTT>GTT		transmembrane protein 99 precursor							117.0	115.0	116.0					17																	38991294		1882	4114	5996	SO:0001583	missense	147184					integral to membrane		g.chr17:38991294C>G	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.526C>G	17.37:g.38991294C>G	ENSP00000301665:p.Leu176Val						p.L176V	NM_145274	NP_660317	Q8N816	TMM99_HUMAN			3	833	+		Breast(137;0.000301)	176					B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	c.526C>G	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840793	0.16891	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.30981	1.51;1.51	3.75	-1.66	0.08265	.	.	.	.	.	T	0.19565	0.0470	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.52957	0.714	T	0.12760	-1.0535	9	0.87932	D	0	.	3.088	0.06284	0.4444:0.3261:0.0:0.2295	.	176	Q8N816	TMM99_HUMAN	V	176	ENSP00000390036:L176V;ENSP00000301665:L176V	ENSP00000301665:L176V	L	+	1	0	TMEM99	36244820	0.707000	0.27866	0.000000	0.03702	0.011000	0.07611	2.978000	0.49305	-0.021000	0.14009	-0.136000	0.14681	CTT		PASS	0.408	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		33	288	33	288	---	---	---	---
KRT31	3881	broad.mit.edu	37	17	39550377	39550377	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:39550377G>T	ENST00000251645.2	-	7	1194	c.1142C>A	c.(1141-1143)cCc>cAc	p.P381H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	381	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.P381H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGTCCGATGGGCTTGCTGCA	0.557																																						uc002hwn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1141-1143)CCC>CAC		keratin 31							125.0	101.0	109.0					17																	39550377		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550377G>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1142C>A	17.37:g.39550377G>T	ENSP00000251645:p.Pro381His					KRT31_uc010cxn.2_3'UTR	p.P381H	NM_002277	NP_002268	Q15323	K1H1_HUMAN			7	1195	-		Breast(137;0.000496)	381			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1142C>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	13.72	2.321189	0.41096	.	.	ENSG00000094796	ENST00000251645	D	0.82081	-1.57	5.52	5.52	0.82312	.	0.333009	0.26140	N	0.026111	T	0.82042	0.4951	M	0.68952	2.095	0.23016	N	0.998421	B	0.34399	0.452	B	0.34180	0.177	T	0.77702	-0.2489	10	0.59425	D	0.04	.	14.9451	0.71023	0.0:0.0:1.0:0.0	.	381	Q15323	K1H1_HUMAN	H	381	ENSP00000251645:P381H	ENSP00000251645:P381H	P	-	2	0	KRT31	36803903	0.726000	0.28059	0.083000	0.20561	0.477000	0.33069	2.544000	0.45761	2.612000	0.88384	0.655000	0.94253	CCC		PASS	0.557	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		24	109	24	109	---	---	---	---
JUP	3728	broad.mit.edu	37	17	39912009	39912009	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:39912009T>C	ENST00000393931.3	-	14	2343	c.2225A>G	c.(2224-2226)cAc>cGc	p.H742R	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.H742R|JUP_ENST00000310706.5_Missense_Mutation_p.H742R	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	742					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.H742R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCCAGCATGTGGTCTGCAGT	0.637																																					Colon(16;42 520 6044 17852 28530)	uc002hxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(2224-2226)CAC>CGC		junction plakoglobin							63.0	61.0	62.0					17																	39912009		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39912009T>C	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2225A>G	17.37:g.39912009T>C	ENSP00000377508:p.His742Arg					JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.H742R|JUP_uc002hxs.2_Missense_Mutation_p.H742R	p.H742R	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	14	2502	-		Breast(137;0.000162)	742					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.2225A>G	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625267	0.46840	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.62105	0.05;0.05;0.05	5.03	5.03	0.67393	.	0.285436	0.27759	N	0.017971	T	0.52240	0.1722	L	0.40543	1.245	0.80722	D	1	B	0.31153	0.31	B	0.24006	0.05	T	0.57260	-0.7842	10	0.72032	D	0.01	-47.0638	13.7404	0.62845	0.0:0.0:0.0:1.0	.	742	P14923	PLAK_HUMAN	R	742	ENSP00000377507:H742R;ENSP00000311113:H742R;ENSP00000377508:H742R	ENSP00000311113:H742R	H	-	2	0	JUP	37165535	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.984000	0.63838	2.101000	0.63845	0.533000	0.62120	CAC		PASS	0.637	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			17	60	17	60	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42815778	42815778	+	Missense_Mutation	SNP	C	C	G	rs61660093		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:42815778C>G	ENST00000315005.3	+	9	837	c.699C>G	c.(697-699)atC>atG	p.I233M	DBF4B_ENST00000398338.3_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.I233M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	233					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.I233M(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TCCTCAAAATCGAAGATGAAA	0.587																																						uc002ihf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)ATC>ATG		DBF4 homolog B isoform 1							139.0	123.0	129.0					17																	42815778		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42815778C>G	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.699C>G	17.37:g.42815778C>G	ENSP00000323663:p.Ile233Met					DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_Missense_Mutation_p.I47M|DBF4B_uc010wjc.1_Missense_Mutation_p.I217M	p.I233M	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			9	912	+		Prostate(33;0.0322)	233					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.699C>G	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979827	0.53827	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.12569	2.67;2.67	4.86	-6.37	0.01963	.	0.178019	0.37577	N	0.002037	T	0.19644	0.0472	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.98;0.998;0.998	P;P;D	0.66847	0.866;0.88;0.947	T	0.17077	-1.0381	10	0.87932	D	0	-14.5029	5.4785	0.16710	0.2406:0.2083:0.0:0.5511	.	233;233;47	Q8NFT6-2;Q8NFT6;Q8NFT6-3	.;DBF4B_HUMAN;.	M	233	ENSP00000377178:I233M;ENSP00000323663:I233M	ENSP00000323663:I233M	I	+	3	3	DBF4B	40171304	0.000000	0.05858	0.854000	0.33618	0.958000	0.62258	-5.765000	0.00099	-1.133000	0.02903	-0.266000	0.10368	ATC		PASS	0.587	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		54	168	54	168	---	---	---	---
KIF18B	146909	broad.mit.edu	37	17	43004447	43004447	+	Splice_Site	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:43004447C>T	ENST00000593135.1	-	14	2374		c.e14-1		KIF18B_ENST00000339151.4_Splice_Site|KIF18B_ENST00000590129.1_Splice_Site|KIF18B_ENST00000587309.1_Splice_Site|KIF18B_ENST00000438933.2_Splice_Site	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.?(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACAGGTGCCCTGGGGAGGGA	0.647																																						uc010wji.1																			2	Unknown(2)		lung(2)	ovary(2)	2						c.e14-1		kinesin family member 18B							25.0	28.0	27.0					17																	43004447		2010	4165	6175	SO:0001630	splice_region_variant	146909							g.chr17:43004447C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2277-1G>A	17.37:g.43004447C>T						KIF18B_uc002iht.2_Splice_Site_p.R771_splice|KIF18B_uc010wjh.1_Splice_Site_p.R759_splice	p.R762_splice	NM_001080443	NP_001073912					14	2387	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Splice_Site	SNP	ENST00000593135.1	37	c.2286_splice	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316473	0.40996	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5352	0.61643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF18B	40359973	0.902000	0.30710	0.295000	0.24960	0.015000	0.08874	4.398000	0.59697	2.573000	0.86826	0.655000	0.94253	.		PASS	0.647	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443	Intron	10	26	10	26	---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44096082	44096082	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:44096082G>A	ENST00000571987.1	+	12	2047	c.2047G>A	c.(2047-2049)Gga>Aga	p.G683R	MAPT_ENST00000535772.1_Missense_Mutation_p.G335R|MAPT_ENST00000431008.3_Missense_Mutation_p.G335R|MAPT_ENST00000347967.5_Missense_Mutation_p.G241R|MAPT_ENST00000415613.2_Missense_Mutation_p.G701R|MAPT_ENST00000262410.5_Missense_Mutation_p.G683R|MAPT_ENST00000420682.2_Missense_Mutation_p.G337R|MAPT_ENST00000334239.8_Missense_Mutation_p.G277R|MAPT_ENST00000351559.5_Missense_Mutation_p.G366R|MAPT_ENST00000574436.1_Missense_Mutation_p.G366R|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000344290.5_Missense_Mutation_p.G701R|MAPT_ENST00000446361.3_Missense_Mutation_p.G308R|MAPT_ENST00000340799.5_Missense_Mutation_p.G337R|MAPT_ENST00000576518.1_Missense_Mutation_p.G266R			P10636	TAU_HUMAN	microtubule-associated protein tau	683					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.G683R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGTCCCTGGCGGAGGAAATAA	0.512																																						uc002ijr.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2047-2049)GGA>AGA		microtubule-associated protein tau isoform 1							105.0	108.0	107.0					17																	44096082		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44096082G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.2047G>A	17.37:g.44096082G>A	ENSP00000458742:p.Gly683Arg					MAPT_uc010dau.2_Missense_Mutation_p.G701R|MAPT_uc002ijs.3_Missense_Mutation_p.G366R|MAPT_uc002ijx.3_Missense_Mutation_p.G337R|MAPT_uc002ijt.3_Missense_Mutation_p.G308R|MAPT_uc002iju.3_Missense_Mutation_p.G277R|MAPT_uc002ijv.3_Missense_Mutation_p.G284R	p.G683R	NM_016835	NP_058519	P10636	TAU_HUMAN			13	2367	+		Melanoma(429;0.216)	683			Tau/MAP 4.		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.2047G>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397285	0.83120	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	D;D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	4.87	4.87	0.63330	.	0.220262	0.23887	N	0.043590	D	0.99904	0.9954	M	0.91354	3.2	0.80722	D	1	D;D;D;P;D;D;D	0.89917	0.972;0.962;0.985;0.949;0.998;1.0;0.977	P;P;P;P;D;D;P	0.97110	0.87;0.719;0.835;0.524;0.919;1.0;0.798	D	0.96111	0.9077	10	0.87932	D	0	-10.1615	16.9481	0.86235	0.0:0.0:1.0:0.0	.	701;337;284;277;308;366;683	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	R	701;683;366;337;335;241;284;277;308;337;701;189	ENSP00000340820:G701R;ENSP00000262410:G683R;ENSP00000303214:G366R;ENSP00000340438:G337R;ENSP00000443028:G335R;ENSP00000302706:G241R;ENSP00000408975:G277R;ENSP00000413056:G337R;ENSP00000410838:G701R	ENSP00000262410:G683R	G	+	1	0	MAPT	41451929	1.000000	0.71417	0.991000	0.47740	0.798000	0.45092	9.869000	0.99810	2.408000	0.81797	0.561000	0.74099	GGA		PASS	0.512	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		62	164	62	164	---	---	---	---
WNT9B	7484	broad.mit.edu	37	17	44952487	44952487	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:44952487C>G	ENST00000290015.2	+	3	408	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	WNT9B_ENST00000393461.2_Missense_Mutation_p.L119V	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	119					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L119V(1)|p.L125V(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GACAGCTTTCCTGTACGCGGT	0.652																																						uc002ikw.1																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(355-357)CTG>GTG		wingless-type MMTV integration site family,							102.0	119.0	113.0					17																	44952487		2201	4295	6496	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44952487C>G	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.355C>G	17.37:g.44952487C>G	ENSP00000290015:p.Leu119Val					WNT9B_uc002ikx.1_Missense_Mutation_p.L119V	p.L119V	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	392	+			119					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.355C>G	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	7.934	0.741339	0.15642	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.73897	-0.79;-0.79	4.61	3.65	0.41850	.	0.073746	0.56097	D	0.000026	T	0.58750	0.2144	N	0.17474	0.49	0.42929	D	0.994311	P;P	0.48503	0.911;0.835	P;P	0.51516	0.672;0.524	T	0.62992	-0.6736	10	0.02654	T	1	.	5.6243	0.17475	0.1588:0.6773:0.0:0.1639	.	119;119	E7EPC3;O14905	.;WNT9B_HUMAN	V	113;119;119	ENSP00000377105:L119V;ENSP00000290015:L119V	ENSP00000290015:L119V	L	+	1	2	WNT9B	42307486	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	2.371000	0.44248	1.300000	0.44818	0.462000	0.41574	CTG		PASS	0.652	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		40	388	40	388	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45232092	45232092	+	Silent	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:45232092G>A	ENST00000066544.3	-	8	996	c.903C>T	c.(901-903)taC>taT	p.Y301Y	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000446365.2_Silent_p.Y240Y|CDC27_ENST00000527547.1_Silent_p.Y301Y|CDC27_ENST00000531206.1_Silent_p.Y301Y	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	301					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.Y301Y(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGTATTAGTGTAGTTTTGTA	0.388																																						uc002ild.3																			2	Substitution - coding silent(2)		lung(2)	lung(2)|breast(2)|ovary(1)	5						c.(901-903)TAC>TAT		cell division cycle protein 27 isoform 2							51.0	52.0	52.0					17																	45232092		2203	4300	6503	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45232092G>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.903C>T	17.37:g.45232092G>A						CDC27_uc002ile.3_Silent_p.Y301Y|CDC27_uc002ilf.3_Silent_p.Y301Y|CDC27_uc010wkp.1_Silent_p.Y240Y|CDC27_uc010wkq.1_RNA	p.Y301Y	NM_001256	NP_001247	P30260	CDC27_HUMAN			8	1030	-			301					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.903C>T	CCDS11509.1																																																																																				PASS	0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			17	62	17	62	---	---	---	---
ABCC3	8714	broad.mit.edu	37	17	48745019	48745019	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:48745019G>T	ENST00000285238.8	+	12	1616	c.1536G>T	c.(1534-1536)aaG>aaT	p.K512N	ABCC3_ENST00000427699.1_Missense_Mutation_p.K512N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	512	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.K512N(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCTTCCTGAAGCAGGTGGAGG	0.592																																						uc002isl.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|central_nervous_system(1)	4						c.(1534-1536)AAG>AAT		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						72.0	59.0	63.0					17																	48745019		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48745019G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1536G>T	17.37:g.48745019G>T	ENSP00000285238:p.Lys512Asn					ABCC3_uc002isk.3_Missense_Mutation_p.K512N	p.K512N	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		12	1616	+			512			ABC transmembrane type-1 1.|Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.1536G>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.039957	0.19669	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.90563	-2.69;-2.53	3.92	1.92	0.25849	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.113100	0.06890	N	0.804021	D	0.85660	0.5748	L	0.42245	1.32	0.26841	N	0.968367	B;B	0.29212	0.237;0.09	B;B	0.31869	0.124;0.137	T	0.72404	-0.4304	10	0.30078	T	0.28	-0.8035	4.3194	0.11009	0.2869:0.0:0.5519:0.1612	.	512;512	O15438;O15438-5	MRP3_HUMAN;.	N	512	ENSP00000395160:K512N;ENSP00000285238:K512N	ENSP00000285238:K512N	K	+	3	2	ABCC3	46100018	0.999000	0.42202	0.551000	0.28230	0.530000	0.34684	0.561000	0.23515	0.451000	0.26802	0.543000	0.68304	AAG		PASS	0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		21	51	21	51	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61560819	61560819	+	Splice_Site	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:61560819A>G	ENST00000290866.4	+	10	1511		c.e10-1		ACE_ENST00000538928.1_Splice_Site|ACE_ENST00000428043.1_Splice_Site|ACE_ENST00000584529.1_Splice_Site|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATCCTTTTCCAGAACCAAGTA	0.453																																						uc002jau.1																			1	Unknown(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.e10-2		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						132.0	117.0	122.0					17																	61560819		2203	4300	6503	SO:0001630	splice_region_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560819A>G	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1488-1A>G	17.37:g.61560819A>G						ACE_uc010wpi.1_Splice_Site_p.E448_splice|ACE_uc010ddu.1_Splice_Site_p.R313_splice|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	p.R496_splice	NM_000789	NP_000780	P12821	ACE_HUMAN			10	1510	+								B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Splice_Site	SNP	ENST00000290866.4	37	c.1488_splice	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459816	0.43736	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8689	0.63605	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACE	58914551	1.000000	0.71417	0.761000	0.31378	0.556000	0.35491	6.421000	0.73353	2.018000	0.59344	0.374000	0.22700	.		PASS	0.453	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		Intron	36	146	36	146	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66267246	66267246	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:66267246T>A	ENST00000327268.4	-	6	1219	c.1055A>T	c.(1054-1056)aAc>aTc	p.N352I	SLC16A6_ENST00000580666.1_Missense_Mutation_p.N352I|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	352					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.N352I(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GGGCTCCCTGTTGAGGACAAA	0.458																																						uc002jgz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)AAC>ATC		solute carrier family 16, member 6	Pyruvic acid(DB00119)						92.0	91.0	91.0					17																	66267246		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267246T>A	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1055A>T	17.37:g.66267246T>A	ENSP00000319991:p.Asn352Ile					ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.N352I	p.N352I	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1243	-	all_cancers(12;1.24e-09)		352			Cytoplasmic (Potential).		Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1055A>T	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310753	0.60414	.	.	ENSG00000108932	ENST00000327268	T	0.59224	0.28	4.37	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.222920	0.43110	D	0.000617	T	0.76485	0.3994	M	0.86420	2.815	0.50813	D	0.999898	D	0.57899	0.981	D	0.65233	0.933	T	0.81444	-0.0930	10	0.87932	D	0	.	12.9111	0.58181	0.0:0.0:0.0:1.0	.	352	O15403	MOT7_HUMAN	I	352	ENSP00000319991:N352I	ENSP00000319991:N352I	N	-	2	0	SLC16A6	63778841	1.000000	0.71417	0.686000	0.30086	0.856000	0.48823	3.223000	0.51231	1.823000	0.53134	0.397000	0.26171	AAC		PASS	0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		26	130	26	130	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171404	68171404	+	Missense_Mutation	SNP	C	C	A	rs104894585		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:68171404C>A	ENST00000243457.3	+	2	607	c.224C>A	c.(223-225)aCg>aAg	p.T75K	KCNJ2_ENST00000535240.1_Missense_Mutation_p.T75K	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	75			T -> R (in LQT7; loss of function mutation acting in a dominant-negative manner). {ECO:0000269|PubMed:16571646}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.T75K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ATCTTCACCACGTGTGTGGAC	0.512																																						uc010dfg.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM035531|CM053931	KCNJ2	M	rs104894585	c.(223-225)ACG>AAG		potassium inwardly-rectifying channel J2							223.0	161.0	182.0					17																	68171404		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171404C>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.224C>A	17.37:g.68171404C>A	ENSP00000243457:p.Thr75Lys					KCNJ2_uc002jir.2_Missense_Mutation_p.T75K	p.T75K	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	625	+	Breast(10;1.64e-08)		75			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.224C>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839627	0.71488	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.96365	-3.99;-3.99	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99406	1.0929	9	.	.	.	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	75	P63252	IRK2_HUMAN	K	75	ENSP00000441848:T75K;ENSP00000243457:T75K	.	T	+	2	0	KCNJ2	65682999	1.000000	0.71417	0.983000	0.44433	0.775000	0.43874	7.818000	0.86416	2.662000	0.90505	0.555000	0.69702	ACG		PASS	0.512	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		70	174	70	174	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80755631	80755631	+	Splice_Site	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr17:80755631A>T	ENST00000355528.4	+	8	901		c.e8-1		RP11-567O16.1_ENST00000576836.1_RNA|TBCD_ENST00000397466.2_Splice_Site|TBCD_ENST00000539345.2_Splice_Site	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D						'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.?(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTTTTTTTTTAGGCACAAATA	0.264																																						uc002kfz.2																			1	Unknown(1)		lung(1)		0						c.e8-2		beta-tubulin cofactor D							75.0	67.0	69.0					17																	80755631		1785	4060	5845	SO:0001630	splice_region_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80755631A>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.772-1A>T	17.37:g.80755631A>T						TBCD_uc002kfx.1_Splice_Site_p.A241_splice|TBCD_uc002kfy.1_Splice_Site_p.A258_splice	p.A258_splice	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		8	902	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)						O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	SNP	ENST00000355528.4	37	c.772_splice	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687291	0.68157	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000536182	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0952	0.53750	1.0:0.0:0.0:0.0	rs57088056	.	.	.	.	-1	.	.	.	+	.	.	TBCD	78348920	1.000000	0.71417	0.980000	0.43619	0.900000	0.52787	6.308000	0.72820	2.111000	0.64477	0.487000	0.48397	.		PASS	0.264	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	Intron	3	28	3	28	---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23731827	23731827	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr18:23731827A>G	ENST00000308268.6	+	3	342	c.253A>G	c.(253-255)Act>Gct	p.T85A	PSMA8_ENST00000415576.2_Missense_Mutation_p.T79A|PSMA8_ENST00000343848.6_Missense_Mutation_p.T41A	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	85					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.T85A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TATAGGACTTACTGCTGATGC	0.363																																						uc002kvq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(253-255)ACT>GCT		proteasome alpha 8 subunit isoform 1							99.0	99.0	99.0					18																	23731827		2203	4300	6503	SO:0001583	missense	143471				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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23731827A>G	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.253A>G	18.37:g.23731827A>G	ENSP00000311121:p.Thr85Ala					PSMA8_uc002kvo.2_Missense_Mutation_p.T41A|PSMA8_uc002kvp.2_Missense_Mutation_p.T79A|PSMA8_uc002kvr.2_Missense_Mutation_p.T53A	p.T85A	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		3	367	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		85					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	37	c.253A>G	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028833	0.75504	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	T;T;T	0.20069	2.1;2.1;2.1	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	M	0.74881	2.28	0.80722	D	1	P;B;B;P	0.46706	0.612;0.357;0.307;0.883	B;B;B;P	0.49451	0.386;0.293;0.194;0.611	T	0.15925	-1.0420	10	0.59425	D	0.04	-20.6248	13.3216	0.60436	1.0:0.0:0.0:0.0	.	53;85;79;41	F5GY34;Q8TAA3;Q8TAA3-5;Q8TAA3-2	.;PSA7L_HUMAN;.;.	A	85;79;41;53;41	ENSP00000311121:T85A;ENSP00000409284:T79A;ENSP00000345584:T41A	ENSP00000311121:T85A	T	+	1	0	PSMA8	21985825	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	8.166000	0.89665	2.248000	0.74166	0.533000	0.62120	ACT		PASS	0.363	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		12	183	12	183	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25570124	25570124	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr18:25570124G>A	ENST00000269141.3	-	10	1958	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	CDH2_ENST00000399380.3_Missense_Mutation_p.A481V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	512	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.A512V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATGGTACCGGCATGAAGCCC	0.413																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1534-1536)GCC>GTC		cadherin 2, type 1 preproprotein							171.0	150.0	157.0					18																	25570124		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570124G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1535C>T	18.37:g.25570124G>A	ENSP00000269141:p.Ala512Val					CDH2_uc010xbn.1_Missense_Mutation_p.A481V	p.A512V	NM_001792	NP_001783	P19022	CADH2_HUMAN			10	1994	-			512			Extracellular (Potential).|Cadherin 4.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1535C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873167	0.17322	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.48836	0.8;0.8	6.16	5.29	0.74685	Cadherin (3);Cadherin-like (1);	0.285136	0.40064	N	0.001184	T	0.28830	0.0715	N	0.13098	0.295	0.53688	D	0.999976	B;B	0.16396	0.017;0.003	B;B	0.12837	0.008;0.002	T	0.16217	-1.0410	10	0.02654	T	1	.	15.8666	0.79069	0.0652:0.0:0.9348:0.0	.	481;512	A8MWK3;P19022	.;CADH2_HUMAN	V	512;481	ENSP00000269141:A512V;ENSP00000382312:A481V	ENSP00000269141:A512V	A	-	2	0	CDH2	23824122	1.000000	0.71417	0.980000	0.43619	0.835000	0.47333	7.608000	0.82898	1.598000	0.50083	0.650000	0.86243	GCC		PASS	0.413	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		5	252	5	252	---	---	---	---
PSTPIP2	9050	broad.mit.edu	37	18	43579495	43579495	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr18:43579495C>A	ENST00000409746.5	-	7	494	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.K141N|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	141						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.K141N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CATAGTTCTTCTTTGCCTTTG	0.498																																						uc002lbp.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(421-423)AAG>AAT		proline-serine-threonine phosphatase interacting							125.0	118.0	120.0					18																	43579495		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43579495C>A		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.423G>T	18.37:g.43579495C>A	ENSP00000387261:p.Lys141Asn					PSTPIP2_uc002lbq.3_Missense_Mutation_p.K141N	p.K141N	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN			7	519	-			141			Potential.			Missense_Mutation	SNP	ENST00000409746.5	37	c.423G>T	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386800	0.82902	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.58797	0.31	5.23	5.23	0.72850	.	0.045942	0.85682	D	0.000000	T	0.80025	0.4548	M	0.87381	2.88	0.49582	D	0.999803	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.83567	0.0110	10	0.87932	D	0	-21.8324	17.9233	0.88975	0.0:1.0:0.0:0.0	.	141;141	Q9H939-2;Q9H939	.;PPIP2_HUMAN	N	141	ENSP00000387261:K141N	ENSP00000353189:K141N	K	-	3	2	PSTPIP2	41833493	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.685000	0.68204	2.605000	0.88082	0.491000	0.48974	AAG		PASS	0.498	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			4	166	4	166	---	---	---	---
SERPINB13	5275	broad.mit.edu	37	18	61260205	61260205	+	Splice_Site	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr18:61260205G>T	ENST00000344731.5	+	5	574	c.472G>T	c.(472-474)Gaa>Taa	p.E158*	SERPINB13_ENST00000269489.5_Splice_Site_p.E158*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	158					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E158*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAAACAAATGGTAGAGTATG	0.363																																						uc002ljc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(472-474)GAA>TAA		serine (or cysteine) proteinase inhibitor, clade							93.0	102.0	99.0					18																	61260205		2202	4300	6502	SO:0001630	splice_region_variant	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61260205G>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.472+1G>T	18.37:g.61260205G>T						SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Nonsense_Mutation_p.E167*|SERPINB13_uc010xeq.1_Intron|SERPINB13_uc010xer.1_Intron	p.E158*	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			5	640	+			158					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	c.472G>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222472	0.95139	.	.	ENSG00000197641	ENST00000269489;ENST00000344731	.	.	.	5.63	5.63	0.86233	.	2.041630	0.01921	N	0.040503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0307	0.92955	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	.	E	+	1	0	SERPINB13	59411185	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.279000	0.65597	2.812000	0.96745	0.555000	0.69702	GAA		PASS	0.363	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	Nonsense_Mutation	39	127	39	127	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74625717	74625717	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr18:74625717A>G	ENST00000253159.8	+	18	3116	c.2918A>G	c.(2917-2919)aAc>aGc	p.N973S	ZNF236_ENST00000320610.9_Missense_Mutation_p.N975S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	973					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N973S(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACTATTGCAACAAAGGCTTT	0.468																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2917-2919)AAC>AGC		zinc finger protein 236							88.0	90.0	89.0					18																	74625717		1999	4179	6178	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625717A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2918A>G	18.37:g.74625717A>G	ENSP00000253159:p.Asn973Ser					ZNF236_uc002lmj.2_RNA	p.N973S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	18	3116	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	973			C2H2-type 18.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2918A>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	6.537	0.467279	0.12402	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12569	2.67;2.67	4.92	0.937	0.19494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304197	0.34245	N	0.004134	T	0.05502	0.0145	N	0.05351	-0.065	0.32271	N	0.568885	B	0.13594	0.008	B	0.10450	0.005	T	0.25117	-1.0141	10	0.24483	T	0.36	.	6.0313	0.19681	0.7147:0.1374:0.1478:0.0	.	973	Q9UL36	ZN236_HUMAN	S	973	ENSP00000253159:N973S;ENSP00000444524:N973S	ENSP00000253159:N973S	N	+	2	0	ZNF236	72754705	1.000000	0.71417	0.982000	0.44146	0.150000	0.21749	1.402000	0.34600	0.324000	0.23333	-0.464000	0.05259	AAC		PASS	0.468	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			23	92	23	92	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753289	76753289	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr18:76753289G>C	ENST00000537592.2	+	2	1298	c.1298G>C	c.(1297-1299)aGc>aCc	p.S433T	SALL3_ENST00000536229.3_Missense_Mutation_p.S300T|SALL3_ENST00000575389.2_Missense_Mutation_p.S433T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	433					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.S433T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCAGCGACAGCGCGCTCCAG	0.622																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1297-1299)AGC>ACC		sal-like 3							28.0	21.0	24.0					18																	76753289		2200	4298	6498	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753289G>C	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1298G>C	18.37:g.76753289G>C	ENSP00000441823:p.Ser433Thr					SALL3_uc010dra.2_Missense_Mutation_p.S40T	p.S433T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1298	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	433			C2H2-type 1.		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1298G>C	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232119	0.39498	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.07567	3.18	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.33876	0.0878	M	0.85859	2.78	0.80722	D	1	D;D	0.76494	0.999;0.989	D;D	0.83275	0.996;0.983	T	0.23797	-1.0178	10	0.52906	T	0.07	-32.8425	17.489	0.87698	0.0:0.0:1.0:0.0	.	165;433	F5GXY4;Q9BXA9	.;SALL3_HUMAN	T	433;433;165	ENSP00000441823:S433T	ENSP00000299466:S433T	S	+	2	0	SALL3	74854277	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	9.575000	0.98187	2.352000	0.79861	0.460000	0.39030	AGC		PASS	0.622	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		11	27	11	27	---	---	---	---
LLfos-48D6.1	0	broad.mit.edu	37	19	2351493	2351493	+	RNA	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:2351493C>T	ENST00000609490.1	-	0	1252				SPPL2B_ENST00000452401.2_RNA														p.P471P(1)									GTGGCCAGCCCGCTCTCCTCT	0.682																																						uc002lvs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1414-1416)CCC>CCT		signal peptide peptidase-like 2B isoform 2							76.0	84.0	81.0					19																	2351493		2182	4274	6456			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2351493C>T																													19.37:g.2351493C>T						SPPL2B_uc002lvr.2_Silent_p.P472P	p.P472P	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1496	+		Hepatocellular(1079;0.137)	472						Silent	SNP	ENST00000609490.1	37	c.1416C>T																																																																																					PASS	0.682	LLfos-48D6.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000473157.1			80	76	80	76	---	---	---	---
STAP2	55620	broad.mit.edu	37	19	4327374	4327374	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:4327374A>C	ENST00000594605.1	-	7	722	c.599T>G	c.(598-600)gTg>gGg	p.V200G	STAP2_ENST00000600324.1_Missense_Mutation_p.V200G|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	200	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V200G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCCGGACCACGTGCGTCCT	0.642																																						uc002mab.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(598-600)GTG>GGG		signal transducing adaptor family member 2							84.0	72.0	76.0					19																	4327374		2203	4300	6503	SO:0001583	missense	55620					cytoplasm|nucleus	protein binding	g.chr19:4327374A>C	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.599T>G	19.37:g.4327374A>C	ENSP00000471052:p.Val200Gly					STAP2_uc002mac.2_Missense_Mutation_p.V200G|STAP2_uc002mad.2_Missense_Mutation_p.V93G	p.V200G	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	7	696	-		Hepatocellular(1079;0.137)	200			SH2.		A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	c.599T>G	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330001	0.81690	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.57	3.51	0.40186	SH2 motif (3);	1.000280	0.08068	N	0.999428	T	0.49098	0.1537	M	0.61703	1.905	0.22305	N	0.999213	P;P	0.40834	0.73;0.487	P;B	0.46585	0.521;0.31	T	0.39702	-0.9601	9	0.87932	D	0	-8.3271	7.4542	0.27257	0.8071:0.0:0.0:0.1929	.	200;200	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	G	200	.	ENSP00000317912:V200G	V	-	2	0	STAP2	4278374	0.006000	0.16342	0.013000	0.15412	0.561000	0.35649	2.259000	0.43259	0.664000	0.31047	0.454000	0.30748	GTG		PASS	0.642	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		3	60	3	60	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9062137	9062137	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:9062137G>T	ENST00000397910.4	-	3	25512	c.25309C>A	c.(25309-25311)Ctt>Att	p.L8437I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8439	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L8437I(2)|p.L4070I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCAGAAAGGACAGTGCTT	0.522																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25309-25311)CTT>ATT		mucin 16							84.0	81.0	82.0					19																	9062137		1993	4187	6180	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062137G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25309C>A	19.37:g.9062137G>T	ENSP00000381008:p.Leu8437Ile						p.L8437I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25513	-			8439			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25309C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.097	0.386187	0.11524	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.89	-0.668	0.11392	.	.	.	.	.	T	0.02929	0.0087	L	0.29908	0.895	.	.	.	P	0.52316	0.952	P	0.47528	0.549	T	0.41502	-0.9505	8	0.87932	D	0	.	2.3984	0.04395	0.2817:0.0:0.4797:0.2387	.	8437	B5ME49	.	I	8437	ENSP00000381008:L8437I	ENSP00000381008:L8437I	L	-	1	0	MUC16	8923137	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.497000	0.06428	-0.039000	0.13602	0.394000	0.25966	CTT		PASS	0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		85	151	85	151	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9084383	9084383	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:9084383T>C	ENST00000397910.4	-	1	7635	c.7432A>G	c.(7432-7434)Atg>Gtg	p.M2478V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2478	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.M2478V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTGACCATGGTGCTGAAA	0.517											OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7432-7434)ATG>GTG		mucin 16							73.0	75.0	74.0					19																	9084383		2198	4299	6497	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084383T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7432A>G	19.37:g.9084383T>C	ENSP00000381008:p.Met2478Val		OREG0006611	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	654		p.M2478V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7636	-			2478			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7432A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.390	-0.924096	0.02377	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	0.225	0.225	0.15325	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.17852	0.024	B	0.06405	0.002	T	0.36432	-0.9748	7	0.87932	D	0	.	.	.	.	.	2478	B5ME49	.	V	2478	ENSP00000381008:M2478V	ENSP00000381008:M2478V	M	-	1	0	MUC16	8945383	0.001000	0.12720	0.081000	0.20488	0.082000	0.17680	-0.050000	0.11904	0.257000	0.21650	0.254000	0.18369	ATG		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		39	62	39	62	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11361676	11361676	+	Silent	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:11361676T>G	ENST00000294618.7	-	6	605	c.594A>C	c.(592-594)gcA>gcC	p.A198A		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	198					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A198A(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGAGTCAGCTGCCAGGTTCC	0.652																																						uc002mqs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(592-594)GCA>GCC		dedicator of cytokinesis 6							28.0	33.0	32.0					19																	11361676		1968	4144	6112	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11361676T>G		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.594A>C	19.37:g.11361676T>G							p.A198A	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			6	635	-			198					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.594A>C	CCDS45975.1																																																																																				PASS	0.652	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		6	45	6	45	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544808	23544808	+	Nonsense_Mutation	SNP	C	C	A	rs201185038		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:23544808C>A	ENST00000300619.7	-	4	1178	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.E293*|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	325					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E325*(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTCACATTTGTAG	0.388																																						uc002nre.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(973-975)GAA>TAA		zinc finger protein 91							68.0	72.0	70.0					19																	23544808		2126	4266	6392	SO:0001587	stop_gained	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544808C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.973G>T	19.37:g.23544808C>A	ENSP00000300619:p.Glu325*					ZNF91_uc010xrj.1_Nonsense_Mutation_p.E293*	p.E325*	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1086	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	325			C2H2-type 7.		A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	ENST00000300619.7	37	c.973G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675856	0.47886	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.97	-0.698	0.11280	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.4486	0.00497	0.1939:0.2985:0.1956:0.312	.	.	.	.	X	325;293	.	ENSP00000300619:E325X	E	-	1	0	ZNF91	23336648	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-4.061000	0.00303	-0.395000	0.07715	0.162000	0.16502	GAA		PASS	0.388	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		33	228	33	228	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37870038	37870038	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:37870038G>T	ENST00000436120.2	+	3	157	c.50G>T	c.(49-51)aGa>aTa	p.R17I	ZNF527_ENST00000483919.1_Missense_Mutation_p.R17I|ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_Missense_Mutation_p.R17I	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R17I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGACCTTCAGAGATGTGGCG	0.433																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(49-51)AGA>ATA		zinc finger protein 527							104.0	104.0	104.0					19																	37870038		2046	4233	6279	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37870038G>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.50G>T	19.37:g.37870038G>T	ENSP00000390179:p.Arg17Ile					ZNF527_uc002ogf.3_Missense_Mutation_p.R17I|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.R17I	p.R17I	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	161	+			17			KRAB.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.50G>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549996	0.65311	.	.	ENSG00000189164	ENST00000356178;ENST00000317566	T	0.01854	4.6	5.07	0.45	0.16624	Krueppel-associated box (4);	0.215605	0.23551	N	0.046972	T	0.08133	0.0203	M	0.77486	2.375	0.29061	N	0.883918	B;B;D	0.58268	0.371;0.32;0.982	B;B;P	0.61132	0.31;0.206;0.884	T	0.02020	-1.1228	10	0.87932	D	0	.	8.1115	0.30917	0.4219:0.0:0.5781:0.0	.	17;17;17	Q8NB42;Q8NB42-2;Q0P6G1	ZN527_HUMAN;.;.	I	17	ENSP00000348501:R17I	ENSP00000325231:R17I	R	+	2	0	ZNF527	42561878	0.053000	0.20554	0.974000	0.42286	0.937000	0.57800	0.109000	0.15417	0.349000	0.23975	0.650000	0.86243	AGA		PASS	0.433	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		30	109	30	109	---	---	---	---
ZNF573	126231	broad.mit.edu	37	19	38229489	38229489	+	Silent	SNP	A	A	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:38229489A>G	ENST00000590414.2	-	4	1923	c.1902T>C	c.(1900-1902)ggT>ggC	p.G634G	ZNF573_ENST00000536220.1_Silent_p.G546G|ZNF573_ENST00000357309.3_Silent_p.G546G|ZNF573_ENST00000339503.4_Silent_p.G576G|ZNF573_ENST00000392138.1_Silent_p.G547G			Q86YE8	ZN573_HUMAN	zinc finger protein 573	634					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.G576G(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AGGGTTTCTCACCAGTATGAA	0.408																																						uc002ohe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1900-1902)GGT>GGC		zinc finger protein 573							126.0	127.0	127.0					19																	38229489		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229489A>G	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1902T>C	19.37:g.38229489A>G						ZNF573_uc010efs.2_Silent_p.G547G|ZNF573_uc002ohd.2_Silent_p.G632G|ZNF573_uc002ohf.2_Silent_p.G576G|ZNF573_uc002ohg.2_Silent_p.G546G	p.G634G	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		4	1924	-			614					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.1902T>C	CCDS59381.1																																																																																				PASS	0.408	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		15	312	15	312	---	---	---	---
FBXO27	126433	broad.mit.edu	37	19	39516090	39516090	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:39516090C>T	ENST00000292853.4	-	6	932	c.813G>A	c.(811-813)gtG>gtA	p.V271V	FBXO27_ENST00000509137.2_Silent_p.V271V|FBXO27_ENST00000600828.1_Silent_p.V270V	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	271	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.V271V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGGAGTTGGTCACACGGGCTC	0.587																																						uc002okh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(811-813)GTG>GTA		F-box protein 27							106.0	90.0	96.0					19																	39516090		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39516090C>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.813G>A	19.37:g.39516090C>T							p.V271V	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	895	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		271			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.813G>A	CCDS12527.1																																																																																				PASS	0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			12	126	12	126	---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41784998	41784998	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:41784998C>T	ENST00000392006.3	+	6	976	c.803C>T	c.(802-804)tCc>tTc	p.S268F	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.S168F|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.S168F|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.S268F|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.S168F|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.S179F	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	268	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S268F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGGAAATCTCCGTGAAGCAC	0.557																																						uc002oqb.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(802-804)TCC>TTC		heterogeneous nuclear ribonucleoprotein U-like 1							109.0	107.0	108.0					19																	41784998		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41784998C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.803C>T	19.37:g.41784998C>T	ENSP00000375863:p.Ser268Phe					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.S168F|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.S168F|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.S268F|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.S168F|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.S168F|HNRNPUL1_uc010eho.2_Missense_Mutation_p.S168F|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.S168F|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.S124F|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.S168F	p.S268F	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			6	1092	+			268			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.803C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625253	0.87560	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000263367	T;T;T	0.70631	-0.5;-0.5;-0.5	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.106804	0.64402	D	0.000002	D	0.84492	0.5484	M	0.74881	2.28	0.46798	D	0.999203	D;D;D;D;D	0.71674	0.994;0.994;0.998;0.994;0.993	D;D;D;D;D	0.70227	0.95;0.968;0.964;0.95;0.946	D	0.84982	0.0889	10	0.87932	D	0	-19.7017	19.3663	0.94464	0.0:1.0:0.0:0.0	.	179;168;268;268;168	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	F	168;268;179	ENSP00000340857:S168F;ENSP00000375863:S268F;ENSP00000263367:S179F	ENSP00000263367:S179F	S	+	2	0	HNRNPUL1	46476838	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	5.686000	0.68211	2.873000	0.98535	0.563000	0.77884	TCC		PASS	0.557	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		31	201	31	201	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47503883	47503883	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:47503883A>C	ENST00000404338.3	+	6	4438	c.4438A>C	c.(4438-4440)Acc>Ccc	p.T1480P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1480	Pro-rich.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.T1480P(2)									GCCTCCACCCACCCCCCAGTC	0.667																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(4438-4440)ACC>CCC		glucocorticoid receptor DNA binding factor 1							19.0	22.0	21.0					19																	47503883		2050	4169	6219	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503883A>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4438A>C	19.37:g.47503883A>C	ENSP00000385720:p.Thr1480Pro						p.T1480P	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4438	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1480			Pro-rich.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.4438A>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413126	0.42817	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08193	3.12	5.3	5.3	0.74995	.	0.370522	0.28398	N	0.015489	T	0.09247	0.0228	L	0.43152	1.355	0.40663	D	0.982146	B	0.21905	0.062	B	0.25291	0.059	T	0.08472	-1.0720	10	0.52906	T	0.07	-14.4523	10.0991	0.42493	0.8499:0.0:0.0:0.1501	.	1480	Q9NRY4-2	.	P	1480	ENSP00000385720:T1480P	ENSP00000324820:T1480P	T	+	1	0	ARHGAP35	52195723	0.905000	0.30787	1.000000	0.80357	0.960000	0.62799	2.794000	0.47853	2.235000	0.73313	0.533000	0.62120	ACC		PASS	0.667	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		4	8	4	8	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54314294	54314294	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:54314294G>T	ENST00000324134.6	-	3	787	c.619C>A	c.(619-621)Ccc>Acc	p.P207T	NLRP12_ENST00000391773.1_Missense_Mutation_p.P207T|NLRP12_ENST00000354278.3_Missense_Mutation_p.P207T|NLRP12_ENST00000535162.1_Missense_Mutation_p.P207T|NLRP12_ENST00000391772.1_Missense_Mutation_p.P207T|NLRP12_ENST00000345770.5_Missense_Mutation_p.P207T|NLRP12_ENST00000351894.4_Missense_Mutation_p.P207T|NLRP12_ENST00000391775.3_Missense_Mutation_p.P207T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	207					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.P207T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTGGCTCGGGGCGCTCCTCG	0.647																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(619-621)CCC>ACC		NLR family, pyrin domain containing 12 isoform							97.0	79.0	85.0					19																	54314294		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314294G>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.619C>A	19.37:g.54314294G>T	ENSP00000319377:p.Pro207Thr					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.P207T|NLRP12_uc002qcj.3_Missense_Mutation_p.P207T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.P207T	p.P207T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	839	-	Ovarian(34;0.19)		207					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.619C>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	3.240	-0.155540	0.06544	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.25	4.25	0.50352	.	0.000000	0.42821	D	0.000642	D	0.87822	0.6274	M	0.72118	2.19	0.26503	N	0.974746	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	T	0.80603	-0.1309	10	0.33940	T	0.23	.	14.5812	0.68292	0.0:0.0:1.0:0.0	.	207;207;207;207	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	207	ENSP00000319377:P207T;ENSP00000438030:P207T;ENSP00000340473:P207T;ENSP00000346231:P207T;ENSP00000375655:P207T;ENSP00000375653:P207T;ENSP00000375652:P207T	ENSP00000319377:P207T	P	-	1	0	NLRP12	59006106	0.027000	0.19231	0.320000	0.25306	0.201000	0.24016	0.347000	0.20014	2.113000	0.64589	0.306000	0.20318	CCC		PASS	0.647	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	117	13	117	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56422060	56422060	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:56422060G>T	ENST00000342929.3	-	6	2150	c.2151C>A	c.(2149-2151)agC>agA	p.S717R	NLRP13_ENST00000588751.1_Missense_Mutation_p.S717R	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	717							ATP binding (GO:0005524)	p.S717R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAGAGCAAATGCTGTTCCATG	0.458																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2149-2151)AGC>AGA		NACHT, leucine rich repeat and PYD containing							183.0	159.0	167.0					19																	56422060		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56422060G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2151C>A	19.37:g.56422060G>T	ENSP00000343891:p.Ser717Arg						p.S717R	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2176	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	717					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2151C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289824	0.10567	.	.	ENSG00000173572	ENST00000342929	D	0.88124	-2.34	2.26	-3.09	0.05331	.	.	.	.	.	T	0.81559	0.4848	L	0.55990	1.75	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.66456	-0.5919	9	0.62326	D	0.03	.	8.7928	0.34861	0.2758:0.0:0.7242:0.0	.	717	Q86W25	NAL13_HUMAN	R	717	ENSP00000343891:S717R	ENSP00000343891:S717R	S	-	3	2	NLRP13	61113872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.936000	0.00685	-1.130000	0.02914	-1.284000	0.01376	AGC		PASS	0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		21	156	21	156	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56953098	56953098	+	Silent	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr19:56953098C>T	ENST00000504904.3	-	7	1985	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	ZNF667_ENST00000292069.6_Silent_p.K422K|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.K550K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	422					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.K422K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CAGAAAACATCTTCCCACATT	0.343																																						uc002qnd.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1264-1266)AAG>AAA		zinc finger protein 667							54.0	53.0	53.0					19																	56953098		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953098C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1266G>A	19.37:g.56953098C>T						ZNF667_uc010etl.2_Silent_p.K204K|ZNF667_uc002qne.2_Silent_p.K422K|ZNF667_uc010etm.2_Silent_p.K365K	p.K422K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1428	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	422			C2H2-type 9.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1266G>A	CCDS12944.1																																																																																				PASS	0.343	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		16	64	16	64	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3898152	3898152	+	Intron	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:3898152G>C	ENST00000316562.4	+	5	1542				MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Intron|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2						aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGCTTTCAGCTTCTTTACA	0.542																																						hsa-mir-103-2|MI0000108																			0					0															102.0	94.0	97.0					20																	3898152		1568	3582	5150	SO:0001627	intron_variant	406896							g.chr20:3898152G>C	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1536+455G>C	20.37:g.3898152G>C						PANK2_uc002wkb.2_Intron|PANK2_uc002wkc.2_Intron|PANK2_uc002wkd.2_Intron|PANK2_uc002wke.2_Intron|PANK2_uc002wkf.2_Intron|uc002wkg.2_RNA|MIR103-2AS_hsa-mir-103-2-as|MI0007262_RNA										+								B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	RNA	SNP	ENST00000316562.4	37	c.12G>C	CCDS13071.2																																																																																				PASS	0.542	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		6	158	6	158	---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20033048	20033048	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:20033048G>T	ENST00000377340.2	-	2	453	c.422C>A	c.(421-423)tCt>tAt	p.S141Y	CRNKL1_ENST00000377327.4_Missense_Mutation_p.S129Y|CRNKL1_ENST00000536226.1_5'UTR|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	141					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S141Y(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCGGCTCTGAGAGCTCACCGA	0.597																																						uc002wrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(421-423)TCT>TAT		crooked neck-like 1 protein							64.0	65.0	64.0					20																	20033048		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20033048G>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.422C>A	20.37:g.20033048G>T	ENSP00000366557:p.Ser141Tyr					C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S129Y	p.S141Y	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			2	454	-			141					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.422C>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890173	0.33348	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.30714	1.52;1.53	5.27	-8.83	0.00806	.	2.374870	0.02018	N	0.047598	T	0.13200	0.0320	N	0.08118	0	0.20703	N	0.999869	B;B	0.34181	0.44;0.019	B;B	0.28139	0.086;0.014	T	0.28996	-1.0026	10	0.72032	D	0.01	.	7.8907	0.29675	0.4519:0.2716:0.2765:0.0	.	129;141	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	Y	129;141	ENSP00000366544:S129Y;ENSP00000366557:S141Y	ENSP00000366544:S129Y	S	-	2	0	CRNKL1	19981048	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.585000	0.02112	-1.613000	0.01577	-0.176000	0.13171	TCT		PASS	0.597	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			12	108	12	108	---	---	---	---
CST11	140880	broad.mit.edu	37	20	23433296	23433296	+	Silent	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:23433296G>T	ENST00000377009.3	-	1	186	c.153C>A	c.(151-153)atC>atA	p.I51I	CST11_ENST00000377007.3_Silent_p.I51I	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	51					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.I51I(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGGTCGGTGATCCACTGCA	0.493																																						uc002wtf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(151-153)ATC>ATA		cystatin 11 isoform 1 precursor							214.0	187.0	196.0					20																	23433296		2203	4300	6503	SO:0001819	synonymous_variant	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433296G>T	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.153C>A	20.37:g.23433296G>T						CST11_uc002wtg.1_Silent_p.I51I	p.I51I	NM_130794	NP_570612	Q9H112	CST11_HUMAN			1	187	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		51					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	37	c.153C>A	CCDS13155.1																																																																																				PASS	0.493	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		43	314	43	314	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25448084	25448084	+	Missense_Mutation	SNP	C	C	G	rs35479032	byFrequency	TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:25448084C>G	ENST00000278886.6	-	19	3437	c.3364G>C	c.(3364-3366)Gag>Cag	p.E1122Q	NINL_ENST00000422516.1_Missense_Mutation_p.E773Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1122					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.E1122Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTTAAAACCTCAATTTCCTTC	0.498													C|||	9	0.00179712	0.0068	0.0	5008	,	,		19889	0.0		0.0	False		,,,				2504	0.0					uc002wux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3364-3366)GAG>CAG		ninein-like		C	GLN/GLU	22,4384	29.9+/-59.1	1,20,2182	174.0	141.0	152.0		3364	4.0	0.0	20	dbSNP_126	152	0,8600		0,0,4300	yes	missense	NINL	NM_025176.4	29	1,20,6482	GG,GC,CC		0.0,0.4993,0.1692	probably-damaging	1122/1383	25448084	22,12984	2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25448084C>G		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3364G>C	20.37:g.25448084C>G	ENSP00000278886:p.Glu1122Gln					NINL_uc010gdn.1_Missense_Mutation_p.E773Q	p.E1122Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			19	3438	-			1122			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3364G>C	CCDS33452.1	5|5	0.0022893772893772895|0.0022893772893772895	5|5	0.01016260162601626|0.01016260162601626	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	13.73|13.73	2.324637|2.324637	0.41197|0.41197	0.004993|0.004993	0.0|0.0	ENSG00000101004|ENSG00000101004	ENST00000278886;ENST00000422516|ENST00000336104	T;T|.	0.36520|.	3.34;1.25|.	4.94|4.94	3.97|3.97	0.46021|0.46021	.|.	0.304761|.	0.29273|.	N|.	0.012631|.	T|.	0.43897|.	0.1268|.	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	D;B|.	0.61697|.	0.99;0.31|.	P;B|.	0.58266|.	0.836;0.092|.	T|.	0.35895|.	-0.9770|.	10|.	0.27082|.	T|.	0.32|.	-14.8872|-14.8872	11.2922|11.2922	0.49256|0.49256	0.0:0.8161:0.1839:0.0|0.0:0.8161:0.1839:0.0	rs35479032|rs35479032	773;1122|.	Q9Y2I6-2;Q9Y2I6|.	.;NINL_HUMAN|.	Q|S	1122;773|74	ENSP00000278886:E1122Q;ENSP00000410431:E773Q|.	ENSP00000278886:E1122Q|.	E|X	-|-	1|2	0|2	NINL|NINL	25396084|25396084	0.071000|0.071000	0.21146|0.21146	0.005000|0.005000	0.12908|0.12908	0.973000|0.973000	0.67179|0.67179	1.803000|1.803000	0.38863|0.38863	1.395000|1.395000	0.46643|0.46643	0.591000|0.591000	0.81541|0.81541	GAG|TGA		PASS	0.498	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		39	215	39	215	---	---	---	---
SRSF6	6431	broad.mit.edu	37	20	42087023	42087023	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:42087023G>A	ENST00000244020.3	+	2	236	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	44	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.D44N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GGAGTTCGAGGACTCCCGCGA	0.716																																						uc010zwg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)GAC>AAC		arginine/serine-rich splicing factor 6							8.0	7.0	8.0					20																	42087023		2096	4170	6266	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42087023G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.130G>A	20.37:g.42087023G>A	ENSP00000244020:p.Asp44Asn					SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.D44N	p.D44N	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		2	300	+		Myeloproliferative disorder(115;0.00452)	44			RRM 1.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.130G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.719681	0.89205	.	.	ENSG00000124193	ENST00000244020	T	0.75050	-0.9	3.59	3.59	0.41128	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.054648	0.64402	D	0.000001	T	0.79581	0.4470	L	0.43598	1.365	0.80722	D	1	D;D	0.65815	0.995;0.986	D;P	0.63597	0.916;0.838	T	0.82418	-0.0467	10	0.87932	D	0	.	14.2003	0.65699	0.0:0.0:1.0:0.0	.	44;44	Q13247;A8K588	SRSF6_HUMAN;.	N	44	ENSP00000244020:D44N	ENSP00000244020:D44N	D	+	1	0	SRSF6	41520437	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	8.758000	0.91663	1.838000	0.53458	0.552000	0.68991	GAC		PASS	0.716	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		3	16	3	16	---	---	---	---
GDAP1L1	78997	broad.mit.edu	37	20	42893100	42893100	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:42893100C>A	ENST00000342560.5	+	5	749	c.661C>A	c.(661-663)Cat>Aat	p.H221N	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.H29N	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	221	GST C-terminal.							p.H221N(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCTTGGAGCATGATGATGT	0.557																																						uc002xlq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(661-663)CAT>AAT		ganglioside-induced differentiation-associated							67.0	60.0	63.0					20																	42893100		2203	4300	6503	SO:0001583	missense	78997							g.chr20:42893100C>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.661C>A	20.37:g.42893100C>A	ENSP00000341782:p.His221Asn					GDAP1L1_uc002xlp.1_Missense_Mutation_p.H221N|GDAP1L1_uc010zwl.1_Missense_Mutation_p.H240N|GDAP1L1_uc010zwm.1_Missense_Mutation_p.H163N|GDAP1L1_uc010zwn.1_Missense_Mutation_p.H29N	p.H221N	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	728	+		Myeloproliferative disorder(115;0.0122)	221			GST C-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.661C>A	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.375069|4.375069	0.82682|0.82682	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000445952|ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000262604;ENST00000438466;ENST00000537864;ENST00000447658	.|D;D;D;D	.|0.97731	.|-3.21;-3.21;-3.21;-4.51	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98194|0.98194	0.9403|0.9403	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.991;0.999;0.997;0.993	.|D;D;D;P	.|0.76575	.|0.988;0.975;0.948;0.823	D|D	0.99609|0.99609	1.0980|1.0980	5|10	.|0.66056	.|D	.|0.02	.|.	18.9724|18.9724	0.92721|0.92721	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|163;240;221;167	.|B7Z1I3;B7Z621;Q96MZ0;Q5JY50	.|.;.;GD1L1_HUMAN;.	E|N	167|221;218;163;189;7;163;29;3	.|ENSP00000341782:H221N;ENSP00000392881:H163N;ENSP00000440498:H29N;ENSP00000391714:H3N	.|ENSP00000262604:H7N	A|H	+|+	2|1	0|0	GDAP1L1|GDAP1L1	42326514|42326514	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.980000|0.980000	0.70556|0.70556	7.461000|7.461000	0.80834|0.80834	2.489000|2.489000	0.83994|0.83994	0.491000|0.491000	0.48974|0.48974	GCA|CAT		PASS	0.557	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		17	35	17	35	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47633845	47633846	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:47633845_47633846GG>AT	ENST00000371917.4	+	32	4375_4376	c.4375_4376GG>AT	c.(4375-4377)GGa>ATa	p.G1459I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1459					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.G1459V(1)|p.G1459I(1)|p.G1459R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATATCCAATGGAGAGAAATTC	0.366																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3																			3	Substitution - Missense(3)		lung(3)	breast(3)|upper_aerodigestive_tract(1)	4						c.(4375-4377)GGA>AGA|c.(4375-4377)GGA>GTA		ADP-ribosylation factor guanine																																				SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47633845G>A|g.chr20:47633846G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	Exception_encountered	20.37:g.47633845_47633846delinsAT	ENSP00000360985:p.Gly1459Ile					ARFGEF2_uc010zyf.1_Missense_Mutation_p.G752R|ARFGEF2_uc010zyf.1_Missense_Mutation_p.G752V	p.G1459R|p.G1459V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		32	4527|4528	+			1459					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4375G>A|c.4376G>T	CCDS13411.1																																																																																				PASS	0.366	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		23	208|214	23	208	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027721	55027721	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:55027721G>T	ENST00000360314.3	+	6	1714	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	CASS4_ENST00000371336.3_Missense_Mutation_p.A497S|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	497					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.A497S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCTGGATTTTGCCCGAGGAGT	0.488																																						uc002xxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1489-1491)GCC>TCC		HEF-like protein isoform a							63.0	63.0	63.0					20																	55027721		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027721G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1489G>T	20.37:g.55027721G>T	ENSP00000353462:p.Ala497Ser					CASS4_uc002xxq.3_Missense_Mutation_p.A497S|CASS4_uc002xxr.2_Missense_Mutation_p.A497S|CASS4_uc010zze.1_Missense_Mutation_p.A443S|CASS4_uc010gio.2_Intron	p.A497S	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1714	+			497					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1489G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913911	0.72983	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.28255	1.62;1.62	5.87	5.87	0.94306	Serine rich protein interaction (1);Signal transduction histidine kinase, subgroup 1, dimerisation/phosphoacceptor domain (1);	0.101756	0.64402	D	0.000002	T	0.63390	0.2507	M	0.84585	2.705	0.39511	D	0.968366	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.79108	0.983;0.985;0.992	T	0.67082	-0.5760	10	0.72032	D	0.01	-32.6094	20.5827	0.99408	0.0:0.0:1.0:0.0	.	443;497;497	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	S	497	ENSP00000353462:A497S;ENSP00000360387:A497S	ENSP00000353462:A497S	A	+	1	0	CASS4	54461128	1.000000	0.71417	0.992000	0.48379	0.561000	0.35649	5.822000	0.69265	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.488	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		8	107	8	107	---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17443699	17443699	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:17443699T>C	ENST00000400588.1	-	10	1756	c.1649A>G	c.(1648-1650)cAg>cGg	p.Q550R		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	550								p.Q550R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTGCAGGGCCTGGGTCTTCTC	0.607																																						uc002zlw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1648-1650)CAG>CGG		GRB2-associated binding protein family, member							59.0	61.0	60.0					22																	17443699		2199	4300	6499	SO:0001583	missense	128954							g.chr22:17443699T>C	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1649A>G	22.37:g.17443699T>C	ENSP00000383431:p.Gln550Arg						p.Q550R	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			10	1757	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	550						Missense_Mutation	SNP	ENST00000400588.1	37	c.1649A>G	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	T	5.543	0.285094	0.10513	.	.	ENSG00000215568	ENST00000400588	T	0.23348	1.91	2.55	1.47	0.22746	.	0.119337	0.56097	D	0.000021	T	0.16171	0.0389	L	0.49571	1.57	0.18873	N	0.999981	P	0.35155	0.487	B	0.30646	0.118	T	0.29882	-0.9997	10	0.07175	T	0.84	.	8.0588	0.30621	0.0:0.125:0.0:0.875	.	550	Q2WGN9	GAB4_HUMAN	R	550	ENSP00000383431:Q550R	ENSP00000383431:Q550R	Q	-	2	0	GAB4	15823699	1.000000	0.71417	0.950000	0.38849	0.046000	0.14306	5.397000	0.66302	0.006000	0.14734	-1.186000	0.01703	CAG		PASS	0.607	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		24	87	24	87	---	---	---	---
USP18	11274	broad.mit.edu	37	22	18653530	18653530	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:18653530T>A	ENST00000215794.7	+	8	1164	c.734T>A	c.(733-735)cTg>cAg	p.L245Q		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	245	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.L245Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GTCTTGAAGCTGACCCATTTG	0.483																																						uc002zny.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(733-735)CTG>CAG		ubiquitin specific protease 18							54.0	58.0	57.0					22																	18653530		2202	4297	6499	SO:0001583	missense	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18653530T>A	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.734T>A	22.37:g.18653530T>A	ENSP00000215794:p.Leu245Gln						p.L245Q	NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN			8	1072	+			245					Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	c.734T>A	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	18.68	3.676929	0.67928	.	.	ENSG00000184979	ENST00000215794;ENST00000441683	T	0.38401	1.14	5.37	5.37	0.77165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.070761	0.64402	D	0.000019	T	0.68458	0.3003	M	0.94142	3.5	0.19775	N	0.999953	D	0.89917	1.0	D	0.77004	0.989	T	0.68469	-0.5400	10	0.87932	D	0	.	11.746	0.51819	0.0:0.0:0.0:1.0	.	245	Q9UMW8	UBP18_HUMAN	Q	245;77	ENSP00000215794:L245Q	ENSP00000215794:L245Q	L	+	2	0	USP18	17033530	0.975000	0.34042	0.899000	0.35326	0.993000	0.82548	4.407000	0.59754	2.041000	0.60428	0.443000	0.29094	CTG		PASS	0.483	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			23	245	23	245	---	---	---	---
USP18	11274	broad.mit.edu	37	22	18653534	18653534	+	Silent	SNP	C	C	T	rs113750800		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:18653534C>T	ENST00000215794.7	+	8	1168	c.738C>T	c.(736-738)acC>acT	p.T246T		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	246	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.T246T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TGAAGCTGACCCATTTGCCCC	0.493																																						uc002zny.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(736-738)ACC>ACT		ubiquitin specific protease 18							52.0	56.0	54.0					22																	18653534		2201	4293	6494	SO:0001819	synonymous_variant	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18653534C>T	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.738C>T	22.37:g.18653534C>T							p.T246T	NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN			8	1076	+			246					Q53Y90|Q6IAD9|Q9NY71	Silent	SNP	ENST00000215794.7	37	c.738C>T	CCDS13752.1																																																																																				PASS	0.493	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			24	240	24	240	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19221124	19221124	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:19221124T>C	ENST00000263200.10	-	8	1261	c.1189A>G	c.(1189-1191)Acg>Gcg	p.T397A	CLTCL1_ENST00000427926.1_Missense_Mutation_p.T397A|CLTCL1_ENST00000353891.5_Missense_Mutation_p.T397A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	397	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.T397A(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTCTGGACCGTCTCTCTGGTA	0.458			T	?	ALCL																																	uc002zpb.2				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1189-1191)ACG>GCG		clathrin, heavy polypeptide-like 1 isoform 1							54.0	55.0	55.0					22																	19221124		1846	4098	5944	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19221124T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1189A>G	22.37:g.19221124T>C	ENSP00000445677:p.Thr397Ala					CLTCL1_uc011agv.1_Missense_Mutation_p.T397A|CLTCL1_uc011agw.1_Missense_Mutation_p.T397A	p.T397A	NM_007098	NP_009029	P53675	CLH2_HUMAN			8	1264	-	Colorectal(54;0.0993)		397			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.1189A>G	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666345	0.47677	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.54071	0.59;0.59;0.59	3.61	3.61	0.41365	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	H	0.95504	3.68	0.80722	D	1	P;D	0.71674	0.908;0.998	D;D	0.91635	0.92;0.999	D	0.85146	0.0983	10	0.87932	D	0	-11.8914	12.6362	0.56685	0.0:0.0:0.0:1.0	.	397;397	P53675-2;P53675	.;CLH2_HUMAN	A	397	ENSP00000439662:T397A;ENSP00000445677:T397A;ENSP00000441158:T397A	ENSP00000445677:T397A	T	-	1	0	CLTCL1	17601124	1.000000	0.71417	0.818000	0.32626	0.019000	0.09904	7.044000	0.76578	1.633000	0.50488	0.482000	0.46254	ACG		PASS	0.458	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		19	67	19	67	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21119398	21119398	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:21119398G>A	ENST00000572273.1	-	21	2620	c.2390C>T	c.(2389-2391)aCg>aTg	p.T797M	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.T855M			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	797					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.T797M(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGGGTGACCGTGTCATTCTT	0.498																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(2389-2391)ACG>ATG		phosphatidylinositol 4-kinase type 3 alpha							197.0	194.0	195.0					22																	21119398		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21119398G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2390C>T	22.37:g.21119398G>A	ENSP00000458238:p.Thr797Met						p.T797M	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		21	2621	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	797					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2390C>T		.	.	.	.	.	.	.	.	.	.	G	30	5.058115	0.93846	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.71922	-0.4446	9	0.48119	T	0.1	-21.2498	20.1669	0.98153	0.0:0.0:1.0:0.0	.	797	P42356	PI4KA_HUMAN	M	797	.	ENSP00000255882:T797M	T	-	2	0	PI4KA	19449398	1.000000	0.71417	0.966000	0.40874	0.853000	0.48598	9.725000	0.98778	2.770000	0.95276	0.650000	0.86243	ACG		PASS	0.498	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		37	490	37	490	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32234677	32234677	+	Silent	SNP	C	C	T	rs371165640		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:32234677C>T	ENST00000382112.3	+	26	2404	c.2334C>T	c.(2332-2334)gaC>gaT	p.D778D	DEPDC5_ENST00000382105.2_Silent_p.D709D|RNU6-201P_ENST00000517100.1_RNA|DEPDC5_ENST00000400249.2_Silent_p.D778D|DEPDC5_ENST00000266091.3_Silent_p.D787D|DEPDC5_ENST00000400246.1_Silent_p.D787D|DEPDC5_ENST00000382111.2_Silent_p.D787D|DEPDC5_ENST00000400248.2_Silent_p.D778D|DEPDC5_ENST00000535622.1_Silent_p.D709D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	787					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.D778D(1)|p.D709D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGGAGGGACGAAGATGGTG	0.483																																						uc003als.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2332-2334)GAC>GAT		DEP domain containing 5 isoform 1		C	,,,	0,4082		0,0,2041	113.0	117.0	116.0		2334,2361,2127,2334	-6.7	0.3	22		116	2,8388		0,2,4193	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,2,6234	TT,TC,CC		0.0238,0.0,0.016	,,,	778/1595,787/1604,709/1504,778/1573	32234677	2,12470	2041	4195	6236	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32234677C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2334C>T	22.37:g.32234677C>T						DEPDC5_uc011als.1_Silent_p.D709D|DEPDC5_uc011alu.1_Silent_p.D787D|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.D778D|DEPDC5_uc003alu.2_Silent_p.D227D|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Silent_p.D108D|DEPDC5_uc003alw.2_Silent_p.D76D|DEPDC5_uc011alx.1_Translation_Start_Site	p.D778D	NM_014662	NP_055477	O75140	DEPD5_HUMAN			27	2476	+			778					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.2334C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	0.727	-0.781441	0.02929	0.0	2.38E-4	ENSG00000100150	ENST00000433147	.	.	.	5.55	-6.73	0.01749	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8609	0.35256	0.099:0.4339:0.0:0.4671	.	.	.	.	X	185	.	.	R	+	1	2	DEPDC5	30564677	0.001000	0.12720	0.318000	0.25279	0.101000	0.19017	-1.936000	0.01549	-1.953000	0.01026	-1.105000	0.02106	CGA		PASS	0.483	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		21	204	21	204	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34000432	34000432	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:34000432C>A	ENST00000354992.2	-	6	1175	c.604G>T	c.(604-606)Gac>Tac	p.D202Y	LARGE_ENST00000437602.2_Missense_Mutation_p.D202Y|LARGE_ENST00000402320.1_Missense_Mutation_p.D202Y|LARGE_ENST00000397394.2_Missense_Mutation_p.D202Y|LARGE_ENST00000337431.2_Missense_Mutation_p.D202Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	202					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D202Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTGAGCTCGTCTGCATTGTAG	0.547																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(604-606)GAC>TAC		like-glycosyltransferase							127.0	105.0	112.0					22																	34000432		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34000432C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.604G>T	22.37:g.34000432C>A	ENSP00000347088:p.Asp202Tyr					LARGE_uc003ane.3_Missense_Mutation_p.D202Y|LARGE_uc010gwp.2_Missense_Mutation_p.D202Y|LARGE_uc011ame.1_Missense_Mutation_p.D134Y|LARGE_uc011amf.1_Missense_Mutation_p.D202Y	p.D202Y	NM_004737	NP_004728	O95461	LARGE_HUMAN			6	1183	-		Lung NSC(1;0.219)	202			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.604G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964804	0.92791	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.79	5.79	0.91817	.	0.045384	0.85682	D	0.000000	T	0.49457	0.1558	M	0.67700	2.07	0.80722	D	1	D;D;D	0.58970	0.984;0.98;0.984	P;P;D	0.65323	0.903;0.891;0.934	T	0.27938	-1.0059	10	0.39692	T	0.17	-2.2587	18.7927	0.91980	0.0:1.0:0.0:0.0	.	202;202;202	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	Y	202	ENSP00000347088:D202Y;ENSP00000336636:D202Y;ENSP00000380549:D202Y;ENSP00000385223:D202Y;ENSP00000388544:D202Y	ENSP00000336636:D202Y	D	-	1	0	LARGE	32330432	1.000000	0.71417	0.423000	0.26634	0.972000	0.66771	7.137000	0.77295	2.735000	0.93741	0.561000	0.74099	GAC		PASS	0.547	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		32	132	32	132	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36690217	36690217	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:36690217T>G	ENST00000216181.5	-	28	3988	c.3758A>C	c.(3757-3759)cAg>cCg	p.Q1253P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1253					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.K1249_E1256delKVEAQLQE(1)|p.Q1253P(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCTGCAGCTGCGCCTCCAC	0.647			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		2	Substitution - Missense(1)|Deletion - In frame(1)	p.K1249_E1256delKVEAQLQE(1)	upper_aerodigestive_tract(1)|lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(3757-3759)CAG>CCG		myosin, heavy polypeptide 9, non-muscle							103.0	98.0	100.0					22																	36690217		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36690217T>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3758A>C	22.37:g.36690217T>G	ENSP00000216181:p.Gln1253Pro						p.Q1253P	NM_002473	NP_002464	P35579	MYH9_HUMAN			28	3989	-			1253			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3758A>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165963	0.78339	.	.	ENSG00000100345	ENST00000216181	D	0.85339	-1.97	4.98	4.98	0.66077	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94056	0.8095	M	0.93808	3.46	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.95540	0.8611	10	0.87932	D	0	.	14.978	0.71289	0.0:0.0:0.0:1.0	.	1253	P35579	MYH9_HUMAN	P	1253	ENSP00000216181:Q1253P	ENSP00000216181:Q1253P	Q	-	2	0	MYH9	35020163	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.869000	0.63028	1.988000	0.58038	0.459000	0.35465	CAG		PASS	0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		16	192	16	192	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50714336	50714336	+	Silent	SNP	C	C	T	rs563052435		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr22:50714336C>T	ENST00000449103.1	-	36	5534	c.5394G>A	c.(5392-5394)acG>acA	p.T1798T	AL022328.1_ENST00000595015.1_Missense_Mutation_p.R52C|PLXNB2_ENST00000359337.4_Silent_p.T1798T			O15031	PLXB2_HUMAN	plexin B2	1798					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.T1841T(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTACTTCTGCGTGTATTGGT	0.657											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		13623	0.0		0.0	False		,,,				2504	0.0					uc003bkv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(5392-5394)ACG>ACA		plexin B2 precursor							48.0	57.0	54.0					22																	50714336		2062	4187	6249	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50714336C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5394G>A	22.37:g.50714336C>T			OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	PLXNB2_uc003bkt.1_Silent_p.T590T|PLXNB2_uc003bku.1_Silent_p.T783T	p.T1798T	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	36	5500	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1798			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.5394G>A	CCDS43035.1																																																																																				PASS	0.657	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		8	53	8	53	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1407771	1407771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:1407771C>T	ENST00000381524.3	+	6	649	c.463C>T	c.(463-465)Cga>Tga	p.R155*	CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.R155*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.R155*|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.R155*|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.R155*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.R155*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.R155*|CSF2RA_ENST00000355805.2_Nonsense_Mutation_p.R155*|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.R22*|CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.R155*			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	155					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R155*(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGTACATACGAAACTCAAA	0.413																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(2)	2						c.(463-465)CGA>TGA		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						89.0	97.0	94.0					X																	1407771		2203	4295	6498	SO:0001587	stop_gained	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407771C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.463C>T	X.37:g.1407771C>T	ENSP00000370935:p.Arg155*					CSF2RA_uc011mhb.1_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpq.2_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.R155*|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.R22*|CSF2RA_uc004cpp.2_Nonsense_Mutation_p.R155*|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpr.2_Nonsense_Mutation_p.R155*	p.R155*	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			7	785	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	155			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Nonsense_Mutation	SNP	ENST00000381524.3	37	c.463C>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	16.77	3.214876	0.58452	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	.	.	.	2.02	-0.1	0.13621	.	0.709223	0.10998	U	0.610873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	2.5479	0.04742	0.2822:0.5286:0.0:0.1892	.	.	.	.	X	155;155;155;155;22;155;155;155;155;155;155;155;155	.	ENSP00000347606:R155X	R	+	1	2	CSF2RA	1367771	0.003000	0.15002	0.000000	0.03702	0.231000	0.25187	0.069000	0.14552	-0.239000	0.09710	0.280000	0.19369	CGA		PASS	0.413	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			39	142	39	142	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9862559	9862559	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:9862559G>C	ENST00000380913.3	+	4	701	c.611G>C	c.(610-612)aGc>aCc	p.S204T		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	204					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.S204T(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCAGCCACAGCAAGCGCGAC	0.622																																						uc004csu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(610-612)AGC>ACC		apical protein of Xenopus-like							75.0	61.0	66.0					X																	9862559		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9862559G>C	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.611G>C	X.37:g.9862559G>C	ENSP00000370299:p.Ser204Thr						p.S204T	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	701	+		Hepatocellular(5;0.000888)	204					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.611G>C	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	5.046	0.194089	0.09599	.	.	ENSG00000146950	ENST00000380913	T	0.23348	1.91	4.21	-2.18	0.07037	.	0.240600	0.42964	D	0.000624	T	0.25382	0.0617	M	0.71581	2.175	0.22975	N	0.99849	P	0.46064	0.872	B	0.40285	0.325	T	0.29119	-1.0022	10	0.66056	D	0.02	-13.7319	11.6501	0.51284	0.6477:0.0:0.3523:0.0	.	204	Q13796	SHRM2_HUMAN	T	204	ENSP00000370299:S204T	ENSP00000370299:S204T	S	+	2	0	SHROOM2	9822559	0.022000	0.18835	0.006000	0.13384	0.029000	0.11900	0.345000	0.19979	-0.458000	0.07023	0.544000	0.68410	AGC		PASS	0.622	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	63	3	63	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24751921	24751921	+	Silent	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:24751921C>G	ENST00000379059.3	+	17	1818	c.1803C>G	c.(1801-1803)gtC>gtG	p.V601V	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Silent_p.V607V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	601					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.V601V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TCAAAGAAGTCATTGAGAAAA	0.338																																						uc004dbl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1801-1803)GTC>GTG		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						47.0	46.0	46.0					X																	24751921		2202	4297	6499	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24751921C>G		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1803C>G	X.37:g.24751921C>G						POLA1_uc004dbn.2_Silent_p.V465V	p.V601V	NM_016937	NP_058633	P09884	DPOLA_HUMAN			17	1826	+			601					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.1803C>G	CCDS14214.1																																																																																				PASS	0.338	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		24	102	24	102	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36103515	36103515	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:36103515G>T	ENST00000313548.4	+	5	687	c.501G>T	c.(499-501)aaG>aaT	p.K167N		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	167						integral component of membrane (GO:0016021)		p.K167K(1)|p.K167N(1)									AATATAATAAGACCATTTATG	0.353																																						uc004ddk.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(499-501)AAG>AAT		hypothetical protein LOC286464							88.0	85.0	86.0					X																	36103515		2202	4300	6502	SO:0001583	missense	286464					integral to membrane		g.chrX:36103515G>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.501G>T	X.37:g.36103515G>T	ENSP00000324767:p.Lys167Asn						p.K167N	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			5	687	+			167						Missense_Mutation	SNP	ENST00000313548.4	37	c.501G>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499003	0.26861	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.52	-3.14	0.05250	.	0.084054	0.43416	D	0.000568	T	0.43919	0.1269	N	0.24115	0.695	0.21802	N	0.99953	D	0.89917	1.0	D	0.71870	0.975	T	0.50499	-0.8821	9	0.72032	D	0.01	-17.8514	13.4203	0.60994	0.8296:0.0:0.1704:0.0	.	167	Q8N9S7	CX059_HUMAN	N	167	.	ENSP00000324767:K167N	K	+	3	2	CXorf59	36013436	0.996000	0.38824	0.351000	0.25721	0.003000	0.03518	0.176000	0.16782	-0.741000	0.04797	-0.994000	0.02522	AAG		PASS	0.353	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		54	129	54	129	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38145005	38145005	+	Intron	SNP	C	C	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:38145005C>T	ENST00000339363.3	-	14	2688				RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E1083K			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.E1083K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTGTACTCCTCTCCATCCTGC	0.418																																						uc004ded.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3247-3249)GAG>AAG		retinitis pigmentosa GTPase regulator isoform C							424.0	345.0	372.0					X																	38145005		2202	4300	6502	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38145005C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1341G>A	X.37:g.38145005C>T						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.E1083K	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	3415	-			865			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.3247G>A		.	.	.	.	.	.	.	.	.	.	c	8.906	0.957552	0.18507	.	.	ENSG00000156313	ENST00000378505	T	0.02345	4.33	2.93	0.353	0.16058	.	1.817120	0.03965	N	0.290654	T	0.02571	0.0078	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27971	-1.0058	10	0.87932	D	0	.	7.1851	0.25795	0.0:0.3494:0.0:0.6506	.	1083	E9PE28	.	K	1083	ENSP00000367766:E1083K	ENSP00000367766:E1083K	E	-	1	0	RPGR	38029949	0.000000	0.05858	0.008000	0.14137	0.140000	0.21249	0.049000	0.14099	-0.158000	0.11040	0.339000	0.21740	GAG		PASS	0.418	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		6	438	6	438	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49957274	49957274	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:49957274A>C	ENST00000376056.2	-	5	2213	c.2063T>G	c.(2062-2064)aTa>aGa	p.I688R	AKAP4_ENST00000358526.2_Missense_Mutation_p.I697R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.I314R|AKAP4_ENST00000376064.3_Missense_Mutation_p.I688R					A kinase (PRKA) anchor protein 4									p.I697R(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TAGTTTATCTATAAATTGCCC	0.473																																						uc004dow.1																			1	Substitution - Missense(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(2089-2091)ATA>AGA		A-kinase anchor protein 4 isoform 1							102.0	83.0	90.0					X																	49957274		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957274A>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2063T>G	X.37:g.49957274A>C	ENSP00000365224:p.Ile688Arg					AKAP4_uc004dov.1_Missense_Mutation_p.I314R|AKAP4_uc010njp.1_Missense_Mutation_p.I519R|AKAP4_uc004dou.1_Missense_Mutation_p.I688R	p.I697R	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	2214	-	Ovarian(276;0.236)		697						Missense_Mutation	SNP	ENST00000376056.2	37	c.2090T>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732254	0.30684	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	4.93	4.93	0.64822	A-kinase anchor 110kDa, C-terminal (1);	0.108661	0.41712	D	0.000825	T	0.26085	0.0636	L	0.60455	1.87	0.45366	D	0.99835	D;D	0.76494	0.96;0.999	P;D	0.77004	0.799;0.989	T	0.00832	-1.1548	9	.	.	.	-18.1702	10.0707	0.42330	1.0:0.0:0.0:0.0	.	697;314	Q5JQC9;A6ND82	AKAP4_HUMAN;.	R	688;314;697;688	ENSP00000365224:I688R;ENSP00000365226:I314R;ENSP00000351327:I697R;ENSP00000365232:I688R	.	I	-	2	0	AKAP4	49844014	1.000000	0.71417	0.994000	0.49952	0.131000	0.20780	3.581000	0.53914	1.643000	0.50594	0.430000	0.28490	ATA		PASS	0.473	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		4	134	4	134	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64734720	64734720	+	Silent	SNP	G	G	A	rs146839918		TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:64734720G>A	ENST00000374811.3	-	13	2101	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	LAS1L_ENST00000374804.5_Silent_p.P628P|LAS1L_ENST00000374807.5_Silent_p.P670P|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	687					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P687P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TGCATGTTGAGGGTTCCAGCC	0.557																																						uc004dwa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2059-2061)CCC>CCT		LAS1-like							70.0	53.0	59.0					X																	64734720		2203	4300	6503	SO:0001819	synonymous_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64734720G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.2061C>T	X.37:g.64734720G>A						LAS1L_uc004dwc.1_Silent_p.P670P|LAS1L_uc004dwd.1_Silent_p.P628P|LAS1L_uc004dvy.1_Silent_p.P200P|LAS1L_uc004dvz.1_Silent_p.P200P	p.P687P	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			13	2133	-			687					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	c.2061C>T	CCDS14381.1																																																																																				PASS	0.557	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		3	24	3	24	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67432046	67432046	+	Silent	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:67432046G>T	ENST00000355520.5	-	8	1247	c.606C>A	c.(604-606)gcC>gcA	p.A202A	OPHN1_ENST00000540071.1_Silent_p.A202A	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	202					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.A202A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TATGAAGAAAGGCCAAGACCT	0.378																																						uc004dww.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(604-606)GCC>GCA		oligophrenin 1							82.0	65.0	71.0					X																	67432046		2203	4300	6503	SO:0001819	synonymous_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67432046G>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.606C>A	X.37:g.67432046G>T						OPHN1_uc011mpg.1_Silent_p.A202A|OPHN1_uc004dwx.2_Silent_p.A202A	p.A202A	NM_002547	NP_002538	O60890	OPHN1_HUMAN			8	900	-			202					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	c.606C>A	CCDS14388.1																																																																																				PASS	0.378	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		3	38	3	38	---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68058546	68058547	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:68058546_68058547CC>AT	ENST00000204961.4	+	2	995_996	c.215_216CC>AT	c.(214-216)cCC>cAT	p.P72H		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	72	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.P72H(2)|p.P72P(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GCAGGGCGGCCCTATGAGTACT	0.574																																						uc004dxd.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(214-216)CCC>CAC|c.(214-216)CCC>CCT		ephrin-B1 precursor																																				SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68058546C>A|g.chrX:68058547C>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	Exception_encountered	X.37:g.68058546_68058547delinsAT	ENSP00000204961:p.Pro72His					EFNB1_uc004dxe.2_Missense_Mutation_p.P72H|EFNB1_uc004dxe.2_Silent_p.P72P	p.P72H|p.P72P	NM_004429	NP_004420	P98172	EFNB1_HUMAN			2	995|996	+			72			Extracellular (Potential).		D3DVU0	Missense_Mutation|Silent	SNP	ENST00000204961.4	37	c.215C>A|c.216C>T	CCDS14391.1																																																																																				PASS	0.574	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		4	28|29	4	28	---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68381405	68381405	+	Silent	SNP	T	T	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:68381405T>C	ENST00000361478.1	-	2	2054	c.1677A>G	c.(1675-1677)gcA>gcG	p.A559A	PJA1_ENST00000374584.3_Silent_p.A371A|PJA1_ENST00000374571.4_Silent_p.A504A|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374583.1_Silent_p.A559A	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	559					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A371A(1)|p.A559A(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CTACATCCACTGCGAGAGACT	0.552																																						uc004dxh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1675-1677)GCA>GCG		praja 1 isoform a							105.0	79.0	87.0					X																	68381405		2203	4300	6503	SO:0001819	synonymous_variant	64219						zinc ion binding	g.chrX:68381405T>C	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1677A>G	X.37:g.68381405T>C						PJA1_uc011mpi.1_Silent_p.A277A|PJA1_uc004dxg.2_Silent_p.A371A|PJA1_uc004dxi.2_Silent_p.A504A	p.A559A	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1963	-			559					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	c.1677A>G	CCDS14393.1																																																																																				PASS	0.552	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		20	125	20	125	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69649804	69649804	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:69649804C>G	ENST00000374382.3	+	12	1449	c.1198C>G	c.(1198-1200)Cga>Gga	p.R400G	GDPD2_ENST00000453994.2_Missense_Mutation_p.R400G|GDPD2_ENST00000538649.1_Missense_Mutation_p.R321G|GDPD2_ENST00000536730.1_Missense_Mutation_p.R321G|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	400	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.R400G(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TAATGTCCAACGACGGGCACC	0.537																																						uc004dyh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1198-1200)CGA>GGA		osteoblast differentiation promoting factor							81.0	65.0	70.0					X																	69649804		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69649804C>G	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1198C>G	X.37:g.69649804C>G	ENSP00000363503:p.Arg400Gly					GDPD2_uc010nky.1_Missense_Mutation_p.N252K|GDPD2_uc011mpk.1_Missense_Mutation_p.R400G|GDPD2_uc011mpl.1_Missense_Mutation_p.R321G|GDPD2_uc011mpm.1_Missense_Mutation_p.R321G	p.R400G	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN			12	1449	+	Renal(35;0.156)		400			GDPD.|Extracellular (Potential).		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1198C>G	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240246	0.22711	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.14144	2.53;2.72;2.72;2.72	5.05	3.23	0.37069	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.402050	0.25244	N	0.032064	T	0.11196	0.0273	L	0.39898	1.24	0.21220	N	0.999756	B;B	0.31318	0.319;0.005	B;B	0.26094	0.066;0.011	T	0.15896	-1.0421	9	.	.	.	-0.6987	12.4578	0.55714	0.0:0.5124:0.4876:0.0	.	400;400	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	G	400;321;321;400	ENSP00000414019:R400G;ENSP00000445982:R321G;ENSP00000444601:R321G;ENSP00000363503:R400G	.	R	+	1	2	GDPD2	69566529	0.758000	0.28405	0.989000	0.46669	0.694000	0.40290	1.157000	0.31724	0.353000	0.24079	0.292000	0.19580	CGA		PASS	0.537	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		9	100	9	100	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73064898	73064898	+	lincRNA	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:73064898G>C	ENST00000429829.1	-	0	7690					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAAGGGGTCTGAGAGTAGGAC	0.463																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							204.0	178.0	186.0					X																	73064898		876	1991	2867			7503							g.chrX:73064898G>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064898G>C								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.7691C>G																																																																																					PASS	0.463	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		5	196	5	196	---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78618612	78618612	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:78618612A>T	ENST00000373298.2	-	3	411	c.268T>A	c.(268-270)Tgc>Agc	p.C90S	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.C46S	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	90						integral component of membrane (GO:0016021)		p.C90S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCAAAAAAGCACATCTCTCCA	0.413																																						uc004edh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(268-270)TGC>AGC		integral membrane protein 2A							67.0	51.0	57.0					X																	78618612		2203	4300	6503	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78618612A>T	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.268T>A	X.37:g.78618612A>T	ENSP00000362395:p.Cys90Ser					ITM2A_uc011mqr.1_Missense_Mutation_p.C46S	p.C90S	NM_004867	NP_004858	O43736	ITM2A_HUMAN			3	603	-			90					B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.268T>A	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	a	10.73	1.432640	0.25813	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.40756	1.97;1.02	4.28	4.28	0.50868	.	0.210963	0.46145	D	0.000315	T	0.23289	0.0563	N	0.14661	0.345	0.40568	D	0.981277	B;B	0.27229	0.044;0.172	B;B	0.16289	0.011;0.015	T	0.07673	-1.0760	10	0.21540	T	0.41	-11.4756	11.5077	0.50476	1.0:0.0:0.0:0.0	.	46;90	B4E062;O43736	.;ITM2A_HUMAN	S	90;46	ENSP00000362395:C90S;ENSP00000415533:C46S	ENSP00000362395:C90S	C	-	1	0	ITM2A	78505268	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	3.226000	0.51254	1.381000	0.46364	0.433000	0.28618	TGC		PASS	0.413	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		7	45	7	45	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928264	92928264	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:92928264C>A	ENST00000373079.3	-	1	303	c.40G>T	c.(40-42)Gcc>Tcc	p.A14S	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.A7S|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	14					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.A14S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACCCCATGGGCGACAGGTTCC	0.527																																						uc004efq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(40-42)GCC>TCC		nucleosome assembly protein 1-like 3							56.0	51.0	53.0					X																	92928264		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928264C>A		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.40G>T	X.37:g.92928264C>A	ENSP00000362171:p.Ala14Ser					FAM133A_uc004efr.1_5'Flank	p.A14S	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	345	-			14					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.40G>T	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242790	0.22796	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.38401	1.14	3.65	2.79	0.32731	.	0.358492	0.25726	N	0.028706	T	0.19406	0.0466	N	0.24115	0.695	0.09310	N	1	P	0.42620	0.785	B	0.38842	0.283	T	0.06734	-1.0810	10	0.33940	T	0.23	.	4.4835	0.11778	0.0:0.6441:0.2266:0.1293	.	14	Q99457	NP1L3_HUMAN	S	14;7	ENSP00000362171:A14S	ENSP00000362171:A14S	A	-	1	0	NAP1L3	92814920	0.443000	0.25641	0.892000	0.35008	0.017000	0.09413	0.146000	0.16180	0.921000	0.36994	0.529000	0.55759	GCC		PASS	0.527	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		20	157	20	157	---	---	---	---
CSTF2	1478	broad.mit.edu	37	X	100077295	100077295	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:100077295C>G	ENST00000372972.2	+	3	209	c.193C>G	c.(193-195)Caa>Gaa	p.Q65E	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.Q65E	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	65	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q65E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CTGTGAATACCAAGACCAAGA	0.473																																						uc004egh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(193-195)CAA>GAA		cleavage stimulation factor subunit 2							89.0	67.0	75.0					X																	100077295		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100077295C>G	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.193C>G	X.37:g.100077295C>G	ENSP00000362063:p.Gln65Glu					CSTF2_uc010nnd.2_Missense_Mutation_p.Q65E|CSTF2_uc004egi.2_Missense_Mutation_p.Q65E	p.Q65E	NM_001325	NP_001316	P33240	CSTF2_HUMAN			3	251	+			65			RRM.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.193C>G	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645211	0.87859	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.13307	2.6;2.6;2.6	5.09	5.09	0.68999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	N	0.01197	-0.965	0.80722	D	1	B;B;B	0.20459	0.045;0.032;0.024	B;B;B	0.37422	0.249;0.138;0.071	T	0.47355	-0.9124	10	0.27785	T	0.31	-7.6083	17.749	0.88429	0.0:1.0:0.0:0.0	.	65;65;65	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	E	65;65;65;56	ENSP00000387996:Q65E;ENSP00000362063:Q65E;ENSP00000415705:Q56E	ENSP00000362063:Q65E	Q	+	1	0	CSTF2	99963951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.121000	0.65114	0.529000	0.55759	CAA		PASS	0.473	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		11	79	11	79	---	---	---	---
GLA	2717	broad.mit.edu	37	X	100653447	100653447	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:100653447T>A	ENST00000218516.3	-	6	931	c.910A>T	c.(910-912)Agc>Tgc	p.S304C	GLA_ENST00000479445.1_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	304					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)	p.S304C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GCTTGAGGGCTGATGTGTCGG	0.498																																					Colon(193;776 2816 31189 44474)	uc004ehl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)AGC>TGC		alpha-galactosidase A precursor	Agalsidase beta(DB00103)						159.0	154.0	156.0					X																	100653447		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100653447T>A	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.910A>T	X.37:g.100653447T>A	ENSP00000218516:p.Ser304Cys						p.S304C	NM_000169	NP_000160	P06280	AGAL_HUMAN			6	1020	-			304					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.910A>T	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395952	0.42512	.	.	ENSG00000102393	ENST00000218516	D	0.99941	-8.45	5.79	4.62	0.57501	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.287176	0.49916	D	0.000131	D	0.99594	0.9853	.	.	.	0.29830	N	0.830136	B	0.20780	0.048	B	0.13407	0.009	D	0.99995	1.5151	9	0.51188	T	0.08	-4.1184	7.6625	0.28410	0.1409:0.0:0.1441:0.715	.	304	P06280	AGAL_HUMAN	C	304	ENSP00000218516:S304C	ENSP00000218516:S304C	S	-	1	0	GLA	100540103	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.791000	0.47829	0.798000	0.33994	0.486000	0.48141	AGC		PASS	0.498	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			33	310	33	310	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107814652	107814653	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:107814652_107814653GG>TT	ENST00000361603.2	+	7	638_639	c.394_395GG>TT	c.(394-396)GGa>TTa	p.G132L	COL4A5_ENST00000328300.6_Missense_Mutation_p.G132L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	132	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G132L(1)|p.G132V(1)|p.G132*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGGAGAACGTGGATTTCCAGGC	0.361									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(3)|central_nervous_system(1)	4						c.(394-396)GGA>TGA|c.(394-396)GGA>GTA		type IV collagen alpha 5 isoform 2 precursor																																				SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107814652G>T|g.chrX:107814653G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	Exception_encountered	X.37:g.107814652_107814653delinsTT	ENSP00000354505:p.Gly132Leu					COL4A5_uc011mso.1_Nonsense_Mutation_p.G132*|COL4A5_uc011mso.1_Missense_Mutation_p.G132V	p.G132*|p.G132V	NM_033380	NP_203699	P29400	CO4A5_HUMAN			7	596|597	+			132			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000361603.2	37	c.394G>T|c.395G>T	CCDS14543.1																																																																																				PASS	0.361	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			45	380|379	45	379	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619187	108619187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:108619187C>A	ENST00000218006.2	-	19	3559	c.3268G>T	c.(3268-3270)Gag>Tag	p.E1090*		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1090					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.E1090*(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTGCAATCTCCACTGGTTGC	0.502																																						uc004eod.3																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(3268-3270)GAG>TAG		guanylate cyclase 2F precursor							173.0	145.0	154.0					X																	108619187		2203	4300	6503	SO:0001587	stop_gained	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619187C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3268G>T	X.37:g.108619187C>A	ENSP00000218006:p.Glu1090*					GUCY2F_uc011msq.1_RNA	p.E1090*	NM_001522	NP_001513	P51841	GUC2F_HUMAN			19	3544	-			1090			Cytoplasmic (Potential).		Q9UJF1	Nonsense_Mutation	SNP	ENST00000218006.2	37	c.3268G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	39	7.487495	0.98316	.	.	ENSG00000101890	ENST00000218006	.	.	.	4.23	4.23	0.50019	.	0.528233	0.19925	N	0.102996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	13.4821	0.61342	0.0:1.0:0.0:0.0	.	.	.	.	X	1090	.	ENSP00000218006:E1090X	E	-	1	0	GUCY2F	108505843	1.000000	0.71417	0.255000	0.24374	0.057000	0.15508	6.300000	0.72776	2.348000	0.79779	0.600000	0.82982	GAG		PASS	0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		44	326	44	326	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118220627	118220627	+	Silent	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:118220627G>T	ENST00000402510.2	-	11	4565	c.4566C>A	c.(4564-4566)tcC>tcA	p.S1522S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1522								p.S1522S(1)|p.S1346S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGCCCCTGGGAAGTGCTTC	0.493																																						uc004era.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(4564-4566)TCC>TCA		hypothetical protein LOC57481							74.0	68.0	70.0					X																	118220627		1883	4110	5993	SO:0001819	synonymous_variant	57481							g.chrX:118220627G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4566C>A	X.37:g.118220627G>T							p.S1522S	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4566	-			1522					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.4566C>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	3.543	-0.093271	0.07053	.	.	ENSG00000248857	ENST00000440399	.	.	.	5.07	3.09	0.35607	.	.	.	.	.	T	0.36054	0.0953	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20140	-1.0284	4	.	.	.	.	8.6308	0.33917	0.0:0.0:0.5832:0.4167	.	.	.	.	T	929	.	.	P	-	1	0	KIAA1210	118104655	0.238000	0.23825	0.010000	0.14722	0.033000	0.12548	0.246000	0.18160	1.162000	0.42619	0.513000	0.50165	CCA		PASS	0.493	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		16	104	16	104	---	---	---	---
NKRF	55922	broad.mit.edu	37	X	118724761	118724761	+	Silent	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:118724761C>A	ENST00000371527.1	-	2	1279	c.627G>T	c.(625-627)gcG>gcT	p.A209A	NKRF_ENST00000542113.1_Silent_p.A224A|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.A209A	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	209	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A209A(1)|p.A224A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTGTCTTACACGCCTGAATAC	0.353																																						uc004erq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(625-627)GCG>GCT		transcription factor NRF							58.0	55.0	56.0					X																	118724761		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724761C>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.627G>T	X.37:g.118724761C>A						NKRF_uc004err.2_Silent_p.A209A	p.A209A	NM_017544	NP_060014	O15226	NKRF_HUMAN			2	1280	-			209			Active repression domain.		G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.627G>T	CCDS35375.1																																																																																				PASS	0.353	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		12	100	12	100	---	---	---	---
NKRF	55922	broad.mit.edu	37	X	118724823	118724823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:118724823C>A	ENST00000371527.1	-	2	1217	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	NKRF_ENST00000542113.1_Nonsense_Mutation_p.E204*|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Nonsense_Mutation_p.E189*	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	189	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E189*(1)|p.E204*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GAAGTCATTTCTGGATTAGAA	0.363																																						uc004erq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(565-567)GAA>TAA		transcription factor NRF							58.0	59.0	59.0					X																	118724823		2203	4300	6503	SO:0001587	stop_gained	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724823C>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.565G>T	X.37:g.118724823C>A	ENSP00000360582:p.Glu189*					NKRF_uc004err.2_Nonsense_Mutation_p.E189*	p.E189*	NM_017544	NP_060014	O15226	NKRF_HUMAN			2	1218	-			189			Active repression domain.		G3V1N1|Q4VC41|Q9UJ91	Nonsense_Mutation	SNP	ENST00000371527.1	37	c.565G>T	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	36	5.961739	0.97151	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	.	.	.	5.7	5.7	0.88788	.	0.339076	0.31963	N	0.006790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-18.1264	11.2188	0.48842	0.0:0.9153:0.0:0.0847	.	.	.	.	X	189;189;204	.	ENSP00000304803:E189X	E	-	1	0	NKRF	118608851	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.399000	0.52586	2.394000	0.81467	0.600000	0.82982	GAA		PASS	0.363	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		21	142	21	142	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118979257	118979257	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:118979257G>T	ENST00000276201.2	-	4	442	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.Q125K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	125	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q125K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GGATATTCCTGACCTGTTTAG	0.358																																						uc004erz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(373-375)CAG>AAG		UPF3 regulator of nonsense transcripts homolog B							82.0	75.0	77.0					X																	118979257		2202	4300	6502	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118979257G>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.373C>A	X.37:g.118979257G>T	ENSP00000276201:p.Gln125Lys					UPF3B_uc004esa.1_Missense_Mutation_p.Q125K	p.Q125K	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			4	450	-			125			Sufficient for association with EJC core.|Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.373C>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446412	0.63178	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.62364	0.03;0.03	5.08	5.08	0.68730	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	L	0.52266	1.64	0.54753	D	0.999981	D;P	0.61697	0.99;0.858	P;P	0.56216	0.794;0.45	T	0.73173	-0.4066	10	0.59425	D	0.04	.	16.5032	0.84262	0.0:0.0:1.0:0.0	.	125;125	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	125	ENSP00000276201:Q125K;ENSP00000245418:Q125K	ENSP00000276201:Q125K	Q	-	1	0	UPF3B	118863285	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.378000	0.97191	2.098000	0.63641	0.506000	0.49869	CAG		PASS	0.358	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			13	114	13	114	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122598733	122598733	+	Silent	SNP	G	G	T			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:122598733G>T	ENST00000371251.1	+	13	2146	c.2094G>T	c.(2092-2094)gtG>gtT	p.V698V	GRIA3_ENST00000264357.5_Silent_p.V698V|GRIA3_ENST00000542149.1_Silent_p.V698V|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371256.5_Silent_p.V698V			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	698					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.V698V(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AAATTGCTGTGTACGAGAAAA	0.428																																						uc004etq.3																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2092-2094)GTG>GTT		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						70.0	68.0	69.0					X																	122598733		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122598733G>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2094G>T	X.37:g.122598733G>T						GRIA3_uc004etr.3_Silent_p.V698V|GRIA3_uc004ets.3_RNA	p.V698V	NM_007325	NP_015564	P42263	GRIA3_HUMAN			14	2387	+			698			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.2094G>T	CCDS14604.1																																																																																				PASS	0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		20	171	20	171	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795238	142795238	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:142795238G>A	ENST00000370498.1	-	2	1193	c.440C>T	c.(439-441)tCt>tTt	p.S147F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	147								p.S147F(1)|p.K23K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.532																																						uc004fbz.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(439-441)TCT>TTT		SPANX-N2 protein							247.0	229.0	235.0					X																	142795238		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795238G>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.440C>T	X.37:g.142795238G>A	ENSP00000359529:p.Ser147Phe						p.S147F	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1194	-	Acute lymphoblastic leukemia(192;6.56e-05)		147					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.440C>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	3.485	-0.105066	0.06967	.	.	ENSG00000203924	ENST00000370498	T	0.08370	3.1	0.656	-1.31	0.09230	.	.	.	.	.	T	0.15392	0.0371	L	0.59436	1.845	0.09310	N	1	D	0.59357	0.985	P	0.59643	0.861	T	0.12243	-1.0555	8	0.66056	D	0.02	.	.	.	.	.	147	Q5MJ10	SPXN2_HUMAN	F	147	ENSP00000359529:S147F	ENSP00000359529:S147F	S	-	2	0	SPANXN2	142622904	0.026000	0.19158	0.000000	0.03702	0.002000	0.02628	0.154000	0.16343	-1.080000	0.03109	-0.553000	0.04205	TCT		PASS	0.532	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		76	628	76	628	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795316	142795316	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:142795316G>A	ENST00000370498.1	-	2	1115	c.362C>T	c.(361-363)tCt>tTt	p.S121F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	121								p.K49K(1)|p.S121F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.522																																						uc004fbz.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(361-363)TCT>TTT		SPANX-N2 protein							20.0	20.0	20.0					X																	142795316		2116	4094	6210	SO:0001583	missense	494119							g.chrX:142795316G>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.362C>T	X.37:g.142795316G>A	ENSP00000359529:p.Ser121Phe						p.S121F	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1116	-	Acute lymphoblastic leukemia(192;6.56e-05)		121					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.362C>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	N	5.902	0.350506	0.11182	.	.	ENSG00000203924	ENST00000370498	T	0.08458	3.09	0.441	-0.882	0.10604	.	.	.	.	.	T	0.11495	0.0280	L	0.29908	0.895	0.09310	N	1	D	0.59357	0.985	P	0.59643	0.861	T	0.21109	-1.0255	8	0.87932	D	0	.	.	.	.	.	121	Q5MJ10	SPXN2_HUMAN	F	121	ENSP00000359529:S121F	ENSP00000359529:S121F	S	-	2	0	SPANXN2	142622982	0.058000	0.20735	0.000000	0.03702	0.019000	0.09904	-0.386000	0.07370	-0.585000	0.05905	0.263000	0.19301	TCT		PASS	0.522	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		5	423	5	423	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037249	148037249	+	Silent	SNP	G	G	C			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:148037249G>C	ENST00000370460.2	+	11	2153	c.1674G>C	c.(1672-1674)ctG>ctC	p.L558L	AFF2_ENST00000342251.3_Silent_p.L525L|AFF2_ENST00000286437.5_Silent_p.L199L|AFF2_ENST00000370457.5_Silent_p.L525L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	558					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.L558L(4)|p.L199L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTCTGCCTCCTCCAA	0.458																																						uc004fcp.2																			6	Substitution - coding silent(6)		lung(6)	ovary(3)|pancreas(2)	5						c.(1672-1674)CTG>CTC		fragile X mental retardation 2							197.0	209.0	205.0					X																	148037249		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037249G>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1674G>C	X.37:g.148037249G>C						AFF2_uc004fcq.2_Silent_p.L548L|AFF2_uc004fcr.2_Silent_p.L519L|AFF2_uc011mxb.1_Silent_p.L523L|AFF2_uc004fcs.2_Silent_p.L525L|AFF2_uc011mxc.1_Silent_p.L199L	p.L558L	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2153	+	Acute lymphoblastic leukemia(192;6.56e-05)		558					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1674G>C	CCDS14684.1																																																																																				PASS	0.458	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		79	558	79	558	---	---	---	---
VMA21	203547	broad.mit.edu	37	X	150573518	150573518	+	Silent	SNP	C	C	A			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chrX:150573518C>A	ENST00000330374.6	+	3	399	c.294C>A	c.(292-294)ggC>ggA	p.G98G	VMA21_ENST00000370361.1_Silent_p.G153G|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)									p.G98G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						GGCGTGAAGGCAAACAGGATT	0.423																																						uc004feu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(292-294)GGC>GGA		VMA21 vacuolar H+-ATPase homolog							133.0	107.0	116.0					X																	150573518		2203	4300	6503	SO:0001819	synonymous_variant	203547				vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome		g.chrX:150573518C>A	AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"""myopathy with excessive autophagy"""	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.294C>A	X.37:g.150573518C>A							p.G98G	NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN			3	370	+			98						Silent	SNP	ENST00000330374.6	37	c.294C>A	CCDS35430.1																																																																																				PASS	0.423	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060876.1	NM_001017980		11	119	11	119	---	---	---	---
GDF3	9573	broad.mit.edu	37	12	7848201	7848201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr12:7848201delG	ENST00000329913.3	-	1	171	c.124delC	c.(124-126)cagfs	p.Q42fs		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	42					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGAACTTCTGGGGTGAAGGC	0.483																																						uc001qte.2																			0				skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(124-126)CAGfs		growth differentiation factor 3 precursor							48.0	48.0	48.0					12																	7848201		2203	4300	6503	SO:0001589	frameshift_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7848201delG	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.124delC	12.37:g.7848201delG	ENSP00000331745:p.Gln42fs						p.Q42fs	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			1	160	-			42					Q8NEJ4	Frame_Shift_Del	DEL	ENST00000329913.3	37	c.124delC	CCDS8581.1																																																																																					0.483	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			87	39	87	39	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-1012-01A-01D-1521-08	TCGA-22-1012-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b75368a-d57f-4787-a0ef-3f478c7d22bc	1742f2eb-421d-4f74-aa9a-c21380c222cb	g.chr20:40739003delG	ENST00000373187.1	-	23	3223	c.3224delC	c.(3223-3225)ccgfs	p.P1075fs	PTPRT_ENST00000373184.1_Frame_Shift_Del_p.P1085fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.P1084fs|PTPRT_ENST00000373198.4_Frame_Shift_Del_p.P1094fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.P1078fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.P1074fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.P1065fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1075	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCAGCTTCCGGGGGGTTGAG	0.627																																						uc002xkg.2																			0				skin(8)|ovary(7)|lung(5)	20						c.(3223-3225)CCGfs		protein tyrosine phosphatase, receptor type, T							42.0	48.0	46.0					20																	40739003		1934	4139	6073	SO:0001589	frameshift_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40739003delG	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3224delC	20.37:g.40739003delG	ENSP00000362283:p.Pro1075fs					PTPRT_uc010ggj.2_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.2_Frame_Shift_Del_p.P278fs	p.P1075fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN			23	3408	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1075			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	ENST00000373187.1	37	c.3224delC	CCDS42874.1																																																																																					0.627	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			80	41	80	41	---	---	---	---
